RFLNA (refilin A)

2016-08-01  

Identity

HGNC
LOCATION
12q24.31
LOCUSID
ALIAS
CFM2,FAM101A

Other Information

Locus ID:

NCBI: 144347
MIM: 615927
HGNC: 27051
Ensembl: ENSG00000178882

Variants:

dbSNP: 144347
ClinVar: 144347
TCGA: ENSG00000178882
COSMIC: RFLNA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000178882ENST00000324038Q6ZTI6
ENSG00000178882ENST00000338359Q6ZTI6
ENSG00000178882ENST00000389727Q6ZTI6
ENSG00000178882ENST00000546355Q6ZTI6

Expression (GTEx)

0
10
20
30
40
50
60

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
234902832013Novel single-nucleotide polymorphism markers predictive of pathologic response to preoperative chemoradiation therapy in rectal cancer patients.11
307963252019Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome.1

Citation

Dessen P

RFLNA (refilin A)

Atlas Genet Cytogenet Oncol Haematol. 2016-08-01

Online version: http://atlasgeneticsoncology.org/gene/55904/rflna