Varaico: Literature-Extracted Genetic Variants

Gene:ERLIN1
Variant:p.A12E

ERLIN1

70 papers

RefSeq Summary

The protein encoded by this gene is part of a protein complex that mediates degradation of inositol 1,4,5-trisphosphate receptors in the endoplasmic reticulum. The encoded protein also binds cholester...

Pfam Domains

Band_7aa 26–213UCSCSPFH domain / Band 7 family

Gene Aliases

HGNC Name

ER lipid raft associated 1

HGNC Previous Symbols

C10orf69; SPFH1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006459.4
p.A12E
c.35C>A
Surrounding Variants
1 paper
NM_006459.4
p.V10A
c.29T>C
1 paper
NM_006459.4
p.G15R
c.43G>A
1 paper
NM_006459.4
p.G15A
c.44G>C
1 paper
NM_006459.4
p.A6insFs
c.16dupG
1 paper
NM_006459.4
p.M1insFs
c.2dupT
1 paper
NM_006459.4
p.M1insFs
c.1_2ins13
1 paper
NM_006459.4
p.A34S
c.100G>T
1 paper
NM_006459.4
p.A34V
c.101C>T
1 paper
NM_006459.4
p.V35V
c.105G>A
4 papers
NM_006459.4
p.G50V
c.149G>T
2 papers
NM_006459.4
p.Q65H
c.195G>T
2 papers
NM_006459.4
p.Q65H
c.195G>C
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