Varaico: Literature-Extracted Genetic Variants

Gene:ERLIN1
Variant:p.V84A

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.V84A
c.251T>C
Surrounding Variants
1 paper
NM_006459.4
p.R90L
c.269G>T
2 papers
NM_006459.4
p.R90Q
c.269G>A
8 papers
NM_006459.4
p.V94A
c.281T>C
1 paper
NM_006459.4
p.M96T
c.287T>C
1 paper
NM_006459.4
p.V102Splc
c.304+2T>C
2 papers
NM_006459.4
p.E125G
c.374A>G
1 paper
NM_006459.4
p.S131G
c.391A>G
1 paper
NM_006459.4
p.E141*
c.421G>T
1 paper
NM_006459.4
p.F143del1
c.427_428delAAA
3 papers
NM_006459.4
p.D144Splc
c.430+1G>T
1 paper
NM_006459.4
p.D144Splc
c.431-1G>C
5 papers
NM_006459.4
p.Q168_A169Splc
c.504+1G>A
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