Varaico: Literature-Extracted Genetic Variants

Gene:ERLIN1
Variant:p.I291V

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
13 papers
NM_006459.4
p.I291V
c.871A>G
Surrounding Variants
1 paper
NM_006459.4
p.Y288_A290del0
c.863_868del6
1 paper
NM_006459.4
p.Y288_A290delFs
c.862_868del7
1 paper
NM_006459.4
p.Y288_Q289del0
c.862_867del6
1 paper
NM_006459.4
p.S293Y
c.878C>A
1 paper
NM_006459.4
p.Y288F
c.863A>T
1 paper
NM_006459.4
p.P280P
c.840G>A
1 paper
NM_006459.4
p.N302D
c.904A>G
1 paper
NM_006459.4
p.S311*
c.932C>G
1 paper
NM_006459.4
p.S311*
c.932C>A
1 paper
NM_006459.4
p.S336_G337ins0
c.1008_1010dupTGG
1 paper
NM_006459.4
p.D261N
c.781G>A
4 papers
NM_006459.4
p.R255*
c.763C>T
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