RYR1 (ryanodine receptor 1)

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RYR1 (ryanodine receptor 1)

2007-02-01 Affiliation

Identity

HGNC

LOCATION

19q13.2

LOCUSID

ALIAS

CCO,MHS,MHS1,PPP1R137,RYDR,RYR,RYR-1,SKRR

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 6261
MIM: 180901
HGNC: 10483
Ensembl: ENSG00000196218

Variants:

dbSNP: 6261
ClinVar: 6261
TCGA: ENSG00000196218
COSMIC: RYR1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000196218	ENST00000355481	P21817
ENSG00000196218	ENST00000359596	P21817
ENSG00000196218	ENST00000593322	M0R0S0
ENSG00000196218	ENST00000593677	M0R1U6
ENSG00000196218	ENST00000594335	M0R014
ENSG00000196218	ENST00000596431	M0QZY3
ENSG00000196218	ENST00000599547	M0R127
ENSG00000196218	ENST00000601514	M0R2E2

Expression (GTEx)

0

50

100

150

200

250

300

350

400

450

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Calcium signaling pathway	KEGG	ko04020
Long-term depression	KEGG	ko04730
Calcium signaling pathway	KEGG	hsa04020
Long-term depression	KEGG	hsa04730
Circadian entrainment	KEGG	hsa04713
Circadian entrainment	KEGG	ko04713
Oxytocin signaling pathway	KEGG	hsa04921
Oxytocin signaling pathway	KEGG	ko04921
Muscle contraction	REACTOME	R-HSA-397014
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
Ion channel transport	REACTOME	R-HSA-983712
Stimuli-sensing channels	REACTOME	R-HSA-2672351
Cardiac conduction	REACTOME	R-HSA-5576891
Ion homeostasis	REACTOME	R-HSA-5578775
Apelin signaling pathway	KEGG	hsa04371

Protein levels (Protein atlas)

Not detected

Low

Medium

High

cerebral cortex

cerebellum

hippocampus

caudate

thyroid gland

parathyroid gland

adrenal gland

nasopharynx

bronchus

lung

oral mucosa

salivary gland

esophagus

stomach 1

stomach 2

duodenum

small intestine

colon

rectum

liver

gallbladder

pancreas

kidney

urinary bladder

testis

epididymis

seminal vesicle

prostate

vagina

ovary

fallopian tube

endometrium 1

endometrium 2

cervix, uterine

placenta

breast

heart muscle

smooth muscle

skeletal muscle

soft tissue 1

soft tissue 2

adipose tissue

skin 1

skin 2

appendix

spleen

lymph node

tonsil

bone marrow

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA133950441	hmg coa reductase inhibitors	Chemical	ClinicalAnnotation	associated		PD	21795085
PA164749136	desflurane	Chemical	ClinicalAnnotation, GuidelineAnnotation, LabelAnnotation	associated		PD	10352931, 10484775, 10612851, 10700782, 10793526, 10823104, 10888602, 11063719, 11448278, 11493496, 11525881, 11553045, 11575529, 11668625, 11928716, 12059893, 12123492, 12124989, 12151923, 12208234, 12220451, 12237752, 12411786, 12411788, 12434264, 12709367, 12883402, 1354642, 14500992, 14641996, 1510267, 15108991, 15210166, 15448513, 15731587, 16163667, 16244001, 16284304, 16621918, 16732084, 16732128, 16835904, 16917943, 17081152, 17122579, 17226826, 17483490, 17667581, 17710899, 1774074, 18212565, 18306019, 18502356, 18564801, 18945287, 19020143, 19191329, 19191333, 19346234, 19648156, 19685112, 19919814, 20681998, 21282829, 21455645, 21965348, 22030266, 22415532, 23628358, 23736090, 24361844, 25086907, 25256590, 25268394, 25466363, 25611019, 25735680, 25960145, 25989378, 26381711, 26951757, 26994242, 27382027, 27663056, 27918309, 28063098, 28326467, 28403410, 29101530, 29608462, 7547049, 7586638, 7633940, 7751854, 7829078, 7889656, 8012359, 8220422, 8220423, 8602662, 8828983, 8902717, 9066328, 9334205, 9389851, 9450902, 9520251, 9543323
PA166122627	chlorocresol	Chemical	ClinicalAnnotation, Literature, VariantAnnotation	associated	PK		25086907, 29344738
PA166128826	multi-core congenital myopathy	Disease	VipGene	associated
PA166128827	exertional rhabdomyolysis	Disease	VipGene	associated
PA166131630	volatile anesthetics	Chemical	ClinicalAnnotation, VipGene	associated		PD	10625004, 11725865, 12124989, 12411786, 12467748, 12761368, 15299003, 15537710, 16917943, 17182726, 18313359, 19018722, 19648156, 19807743, 20301325, 20837722, 20888934, 23069638, 23223104, 23628358, 24291096, 25424378, 25989378, 26031886, 26068069, 3177917, 9037193, 9873004, 10360872, 12059893, 15731587, 16163667, 19346234, 19648156, 21455645, 21965348, 22415532, 25735680, 25960145, 27382027, 27663056, 28326467, 28403410
PA166153638	rs1800559	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166153940	rs772226819	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155375	rs1801086	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155481	rs28933396	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155482	rs28933397	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155516	rs63749869	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155524	rs111888148	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155526	rs112563513	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155528	rs118192116	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155529	rs118192122	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155532	rs118192161	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155533	rs118192162	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155534	rs118192163	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155535	rs118192167	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155536	rs118192170	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155537	rs118192172	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155539	rs118192176	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155540	rs118192177	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155541	rs118192178	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155543	rs121918592	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155544	rs121918593	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155545	rs121918594	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155546	rs121918595	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155564	rs193922747	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155567	rs193922770	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155568	rs193922772	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155569	rs193922802	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155571	rs193922807	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155572	rs193922809	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155573	rs193922816	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155574	rs193922818	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155575	rs193922876	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155576	rs193922878	Variant	VipGene	associated			11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA444863	Malignant Hyperthermia	Disease	ClinicalAnnotation, DataAnnotation, Literature, MultilinkAnnotation, VariantAnnotation, VipGene	ambiguous	PK	PD	10352931, 10484775, 10612851, 10618932, 10700782, 10793526, 10823104, 10888602, 11063719, 11448278, 11493496, 11525881, 11553045, 11575529, 11668625, 11928716, 12059893, 12123492, 12124989, 12151923, 12208234, 12220451, 12237752, 12411786, 12411788, 12434264, 12709367, 12883402, 1354642, 14500992, 14641996, 1510267, 15108991, 15210166, 15448513, 15731587, 16163667, 16244001, 16284304, 16621918, 16732084, 16732128, 16835904, 16917943, 17081152, 17122579, 17226826, 17483490, 17667581, 17710899, 1774074, 18212565, 18306019, 18502356, 18564801, 18945287, 19018722, 19020143, 19191329, 19191333, 19346234, 19513315, 19648156, 19685112, 19807743, 19919814, 20681998, 21282829, 21455645, 21926372, 21965348, 22030266, 22415532, 23558838, 23628358, 23736090, 23788249, 24195946, 24361844, 25086907, 25256590, 25268394, 25466363, 25611019, 25735680, 25958340, 25960145, 25989378, 26381711, 26951757, 26994242, 27382027, 27663056, 27918309, 28063098, 28326467, 28403410, 29101530, 29344738, 29608462, 7547049, 7586638, 7633940, 7751854, 7829078, 7889656, 8012359, 8220422, 8220423, 8592342, 8602662, 8828983, 8902717, 9066328, 9334205, 9389851, 9450902, 9497245, 9520251, 9543323
PA444997	Muscular Diseases	Disease	ClinicalAnnotation	associated		PD	21795085
PA445549	Rhabdomyolysis	Disease	MultilinkAnnotation, VariantAnnotation	associated		PD	19807743, 27663056
PA447048	Myopathy, Central Core	Disease	ClinicalAnnotation, MultilinkAnnotation, VipGene	associated		PD	10484775, 10612851, 11063719, 11575529, 12059893, 12124989, 12151923, 12208234, 12411786, 12411788, 15448513, 15731587, 16163667, 16732084, 16835904, 16917943, 17081152, 17122579, 18564801, 19648156, 20681998, 21455645, 21965348, 25611019, 25958340, 25989378, 26709912, 26951757, 29608462, 7547049, 7889656, 8220423, 9334205
PA448710	caffeine	Chemical	ClinicalAnnotation, VariantAnnotation, VipGene	associated	PK		11525881, 29344738, 9334205
PA449208	dantrolene	Chemical	VipGene	associated
PA449461	enflurane	Chemical	ClinicalAnnotation, GuidelineAnnotation, LabelAnnotation	associated		PD	10352931, 10484775, 10612851, 10700782, 10793526, 10823104, 10888602, 11063719, 11448278, 11493496, 11525881, 11553045, 11575529, 11668625, 11928716, 12059893, 12123492, 12124989, 12151923, 12208234, 12220451, 12237752, 12411786, 12411788, 12434264, 12709367, 12883402, 1354642, 14500992, 14641996, 1510267, 15108991, 15210166, 15448513, 15731587, 16163667, 16244001, 16284304, 16621918, 16732084, 16732128, 16835904, 16917943, 17081152, 17122579, 17226826, 17483490, 17667581, 17710899, 1774074, 18212565, 18306019, 18502356, 18564801, 18945287, 19020143, 19191329, 19191333, 19346234, 19648156, 19685112, 19919814, 20681998, 21282829, 21455645, 21965348, 22030266, 22415532, 23628358, 23736090, 24361844, 25086907, 25256590, 25268394, 25466363, 25611019, 25735680, 25960145, 25989378, 26381711, 26951757, 26994242, 27382027, 27663056, 27918309, 28063098, 28326467, 28403410, 29101530, 29608462, 7547049, 7586638, 7633940, 7751854, 7829078, 7889656, 8012359, 8220422, 8220423, 8602662, 8828983, 8902717, 9066328, 9334205, 9389851, 9450902, 9520251, 9543323
PA449841	haloperidol	Chemical	MultilinkAnnotation	associated			27023437
PA449845	halothane	Chemical	ClinicalAnnotation, GuidelineAnnotation, VariantAnnotation	associated		PD	10352931, 10484775, 10612851, 10700782, 10793526, 10823104, 10888602, 11063719, 11448278, 11493496, 11525881, 11553045, 11575529, 11668625, 11928716, 12059893, 12123492, 12124989, 12151923, 12208234, 12220451, 12237752, 12411786, 12411788, 12434264, 12709367, 12883402, 1354642, 14500992, 14641996, 1510267, 15108991, 15210166, 15448513, 15731587, 16163667, 16244001, 16284304, 16621918, 16732084, 16732128, 16835904, 16917943, 17081152, 17122579, 17226826, 17483490, 17667581, 17710899, 1774074, 18212565, 18306019, 18502356, 18564801, 18945287, 19020143, 19191329, 19191333, 19346234, 19648156, 19685112, 19919814, 20681998, 21282829, 21455645, 21965348, 22030266, 22415532, 23628358, 23736090, 24361844, 25086907, 25256590, 25268394, 25466363, 25611019, 25735680, 25960145, 25989378, 26381711, 26951757, 26994242, 27382027, 27663056, 27918309, 28063098, 28326467, 28403410, 29101530, 29608462, 7547049, 7586638, 7633940, 7751854, 7829078, 7889656, 8012359, 8220422, 8220423, 8602662, 8828983, 8902717, 9066328, 9334205, 9389851, 9450902, 9520251, 9543323
PA450106	isoflurane	Chemical	ClinicalAnnotation, GuidelineAnnotation, LabelAnnotation	associated		PD	10352931, 10484775, 10612851, 10700782, 10793526, 10823104, 10888602, 11063719, 11448278, 11493496, 11525881, 11553045, 11575529, 11668625, 11928716, 12059893, 12123492, 12124989, 12151923, 12208234, 12220451, 12237752, 12411786, 12411788, 12434264, 12709367, 12883402, 1354642, 14500992, 14641996, 1510267, 15108991, 15210166, 15448513, 15731587, 16163667, 16244001, 16284304, 16621918, 16732084, 16732128, 16835904, 16917943, 17081152, 17122579, 17226826, 17483490, 17667581, 17710899, 1774074, 18212565, 18306019, 18502356, 18564801, 18945287, 19020143, 19191329, 19191333, 19346234, 19648156, 19685112, 19919814, 20681998, 21282829, 21455645, 21965348, 22030266, 22415532, 23628358, 23736090, 24361844, 25086907, 25256590, 25268394, 25466363, 25611019, 25735680, 25960145, 25989378, 26381711, 26951757, 26994242, 27382027, 27663056, 27918309, 28063098, 28326467, 28403410, 29101530, 29608462, 7547049, 7586638, 7633940, 7751854, 7829078, 7889656, 8012359, 8220422, 8220423, 8602662, 8828983, 8902717, 9066328, 9334205, 9389851, 9450902, 9520251, 9543323
PA450434	methoxyflurane	Chemical	ClinicalAnnotation, GuidelineAnnotation	associated		PD	10352931, 10484775, 10612851, 10700782, 10793526, 10823104, 10888602, 11063719, 11448278, 11493496, 11525881, 11553045, 11575529, 11668625, 11928716, 12059893, 12123492, 12124989, 12151923, 12208234, 12220451, 12237752, 12411786, 12411788, 12434264, 12709367, 12883402, 1354642, 14500992, 14641996, 1510267, 15108991, 15210166, 15448513, 15731587, 16163667, 16244001, 16284304, 16621918, 16732084, 16732128, 16835904, 16917943, 17081152, 17122579, 17226826, 17483490, 17667581, 17710899, 1774074, 18212565, 18306019, 18502356, 18564801, 18945287, 19020143, 19191329, 19191333, 19346234, 19648156, 19685112, 19919814, 20681998, 21282829, 21455645, 21965348, 22030266, 22415532, 23628358, 23736090, 24361844, 25086907, 25256590, 25268394, 25466363, 25611019, 25735680, 25960145, 25989378, 26381711, 26951757, 26994242, 27382027, 27663056, 27918309, 28063098, 28326467, 28403410, 29101530, 29608462, 7547049, 7586638, 7633940, 7751854, 7829078, 7889656, 8012359, 8220422, 8220423, 8602662, 8828983, 8902717, 9066328, 9334205, 9389851, 9450902, 9520251, 9543323
PA451341	sevoflurane	Chemical	ClinicalAnnotation, GuidelineAnnotation, LabelAnnotation	associated		PD	10352931, 10484775, 10612851, 10700782, 10793526, 10823104, 10888602, 11063719, 11448278, 11493496, 11525881, 11553045, 11575529, 11668625, 11928716, 12059893, 12123492, 12124989, 12151923, 12208234, 12220451, 12237752, 12411786, 12411788, 12434264, 12709367, 12883402, 1354642, 14500992, 14641996, 1510267, 15108991, 15210166, 15448513, 15731587, 16163667, 16244001, 16284304, 16621918, 16732084, 16732128, 16835904, 16917943, 17081152, 17122579, 17226826, 17483490, 17667581, 17710899, 1774074, 18212565, 18306019, 18502356, 18564801, 18945287, 19020143, 19191329, 19191333, 19346234, 19648156, 19685112, 19919814, 20681998, 21282829, 21455645, 21965348, 22030266, 22415532, 23628358, 23736090, 24361844, 25086907, 25256590, 25268394, 25466363, 25611019, 25735680, 25960145, 25989378, 26381711, 26951757, 26994242, 27382027, 27663056, 27918309, 28063098, 28326467, 28403410, 29101530, 29608462, 7547049, 7586638, 7633940, 7751854, 7829078, 7889656, 8012359, 8220422, 8220423, 8602662, 8828983, 8902717, 9066328, 9334205, 9389851, 9450902, 9520251, 9543323
PA451522	succinylcholine	Chemical	ClinicalAnnotation, GuidelineAnnotation, LabelAnnotation, Literature, VipGene	associated		PD	10625004, 11725865, 12124989, 12411786, 12467748, 12761368, 15299003, 15537710, 16917943, 17182726, 18313359, 19018722, 19648156, 19807743, 20301325, 20837722, 20888934, 23069638, 23223104, 23628358, 24291096, 25424378, 25989378, 26031886, 26068069, 3177917, 9037193, 9873004, 10352931, 10360872, 10484775, 10612851, 10700782, 10793526, 10823104, 10888602, 11063719, 11448278, 11493496, 11525881, 11553045, 11575529, 11668625, 11928716, 12059893, 12123492, 12124989, 12151923, 12208234, 12220451, 12237752, 12411786, 12411788, 12434264, 12709367, 12883402, 1354642, 14500992, 14641996, 1510267, 15108991, 15210166, 15448513, 15731587, 16163667, 16244001, 16284304, 16621918, 16732084, 16732128, 16835904, 16917943, 17081152, 17122579, 17226826, 17483490, 17667581, 17710899, 1774074, 18212565, 18306019, 18502356, 18564801, 18945287, 19020143, 19191329, 19191333, 19346234, 19648156, 19685112, 19919814, 20681998, 21282829, 21455645, 21965348, 22030266, 22415532, 23628358, 23736090, 24361844, 25086907, 25256590, 25268394, 25466363, 25611019, 25735680, 25960145, 25989378, 26381711, 26951757, 26994242, 27382027, 27663056, 27918309, 28063098, 28326467, 28403410, 29101530, 29608462, 7547049, 7586638, 7633940, 7751854, 7829078, 7889656, 8012359, 8220422, 8220423, 8602662, 8828983, 8902717, 9066328, 9334205, 9389851, 9450902, 9520251, 9543323
PA85	CACNA1S	Gene	DataAnnotation	associated

References

Pubmed ID	Year	Title	Citations
37787745	2024	Evaluation of Malignant Hyperthermia Features in Patients with Pathogenic or Likely Pathogenic RYR1 Variants Disclosed through a Population Genomic Screening Program.	1
38159862	2024	Structural and functional interactions between the EF hand domain and S2-S3 loop in the type-1 ryanodine receptor ion channel.	0
38445312	2024	A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice.	0
38520674	2024	Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies.	0
37787745	2024	Evaluation of Malignant Hyperthermia Features in Patients with Pathogenic or Likely Pathogenic RYR1 Variants Disclosed through a Population Genomic Screening Program.	1
38159862	2024	Structural and functional interactions between the EF hand domain and S2-S3 loop in the type-1 ryanodine receptor ion channel.	0
38445312	2024	A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice.	0
38520674	2024	Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies.	0
37154182	2023	Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.	0
37602753	2023	Abnormal myosin post-translational modifications and ATP turnover time associated with human congenital myopathy-related RYR1 mutations.	2
37659621	2023	ERO1α primes the ryanodine receptor to respond to arsenite with concentration dependent Ca(2+) release sequentially triggering two different mechanisms of ROS formation.	0
37783627	2023	Pancreatitis in RYR1-related disorders.	1
37964752	2023	Ryanodine receptor type 1 content decrease-induced endoplasmic reticulum stress is a hallmark of myopathies.	1
37996280	2023	Functional characterization of RYR1 variants identified in malignant hyperthermia susceptible individuals.	1
38201236	2023	Successful Correction by Prime Editing of a Mutation in the RYR1 Gene Responsible for a Myopathy.	3

Citation

Dessen P

RYR1 (ryanodine receptor 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45850/js/lib/js/lib/zoomerang.js

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