Varaico: Literature-Extracted Genetic Variants

Gene:ERLIN2
Variant:p.L41Q

ERLIN2

92 papers

RefSeq Summary

This gene encodes a member of the SPFH domain-containing family of lipid raft-associated proteins. The encoded protein is localized to lipid rafts of the endoplasmic reticulum and plays a critical rol...

Pfam Domains

Band_7aa 24–214UCSCSPFH domain / Band 7 family

Gene Aliases

HGNC Name

ER lipid raft associated 2

HGNC Previous Symbols

C8orf2; SPFH2; SPG18

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007175.8
p.L41Q
c.122T>A
Surrounding Variants
1 paper
NM_007175.8
p.R36S
c.108A>T
3 papers
NM_007175.8
p.R36Splc
c.108-2A>T
1 paper
NM_007175.8
p.G48V
c.143G>T
1 paper
NM_007175.8
p.H50Y
c.148C>T
1 paper
NM_007175.8
p.I56V
c.166A>G
7 papers
NM_007175.8
p.Q63K
c.187C>A
5 papers
NM_007175.8
p.T65I
c.194C>T
3 papers
NM_007175.8
p.D69V
c.206A>T
1 paper
NM_007175.8
p.D69E
c.207T>A
1 paper
NM_007175.8
p.D69E
c.207T>G
4 papers
NM_007175.8
p.V71A
c.212T>C
1 paper
NM_007175.8
p.V74I
c.220G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."