Varaico: Literature-Extracted Genetic Variants

Gene:ERLIN1
Variant:p.Q168_A169Splc

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
3 papers
NM_006459.4
p.Q168_A169Splc
c.505-14C>G
Surrounding Variants
1 paper
NM_006459.4
p.A169fs
c.505_506fs
1 paper
NM_006459.4
p.K174N
c.522A>C
1 paper
NM_006459.4
p.A199T
c.595G>A
1 paper
NM_006459.4
p.V205V
c.615G>C
1 paper
NM_006459.4
p.K207E
c.619A>G
1 paper
NM_006459.4
p.Q168_A169Splc
c.504+1270A>C
5 papers
NM_006459.4
p.Q168_A169Splc
c.504+1G>A
1 paper
NM_006459.4
p.D144Splc
c.431-1G>C
3 papers
NM_006459.4
p.D144Splc
c.430+1G>T
1 paper
NM_006459.4
p.F143del1
c.427_428delAAA
1 paper
NM_006459.4
p.E141*
c.421G>T
1 paper
NM_006459.4
p.S131G
c.391A>G
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