CRYBG2 (crystallin beta-gamma domain containing 2)

2017-09-01  

Identity

HGNC
LOCATION
1p36.11
LOCUSID
ALIAS
AIM1L

Other Information

Locus ID:

NCBI: 55057
HGNC: 17295
Ensembl: ENSG00000176092

Variants:

dbSNP: 55057
ClinVar: 55057
TCGA: ENSG00000176092
COSMIC: CRYBG2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000176092ENST00000308182Q8N1P7
ENSG00000176092ENST00000374207E7EX92
ENSG00000176092ENST00000429942J3KQW1
ENSG00000176092ENST00000475866E7ET48
ENSG00000176092ENST00000527815E9PIR9

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA445048NauseaDiseaseClinicalAnnotationassociatedPD
PA446051VomitingDiseaseClinicalAnnotationassociatedPD
PA452618opioidsChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
176729182007Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.17

Citation

Dessen P

CRYBG2 (crystallin beta-gamma domain containing 2)

Atlas Genet Cytogenet Oncol Haematol. 2017-09-01

Online version: http://atlasgeneticsoncology.org/gene/80039/crybg2-(crystallin-beta-gamma-domain-containing-2)