Varaico: Literature-Extracted Genetic Variants

Gene:ERLIN1
Variant:p.K207E

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.K207E
c.619A>G
Surrounding Variants
1 paper
NM_006459.4
p.V205V
c.615G>C
1 paper
NM_006459.4
p.A199T
c.595G>A
1 paper
NM_006459.4
p.K174N
c.522A>C
1 paper
NM_006459.4
p.A169fs
c.505_506fs
3 papers
NM_006459.4
p.Q168_A169Splc
c.505-14C>G
1 paper
NM_006459.4
p.M236I
c.708G>T
1 paper
NM_006459.4
p.M236I
c.708G>C
1 paper
NM_006459.4
p.M236I
c.708G>A
1 paper
NM_006459.4
p.Q168_A169Splc
c.504+1270A>C
4 papers
NM_006459.4
p.R255*
c.763C>T
1 paper
NM_006459.4
p.D261N
c.781G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."