Varaico: Literature-Extracted Genetic Variants

Gene:ERLIN2
Variant:p.R180C

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
7 papers
NM_007175.8
p.R180C
c.538C>T
Surrounding Variants
1 paper
NM_007175.8
p.A178T
c.532G>A
1 paper
NM_007175.8
p.Y183C
c.548A>G
3 papers
NM_007175.8
p.Y183delFs
c.549delC
2 papers
NM_007175.8
p.Y183*
c.549C>A
2 papers
NM_007175.8
p.Y183*
c.549C>G
2 papers
NM_007175.8
p.E184K
c.550G>A
1 paper
NM_007175.8
p.M186T
c.557T>C
1 paper
NM_007175.8
p.R169L
c.506G>T
7 papers
NM_007175.8
p.V168M
c.502G>A
7 papers
NM_007175.8
p.Q166_A167Splc
c.499-1G>T
1 paper
NM_007175.8
p.I165T
c.494T>C
2 papers
NM_007175.8
p.P161T
c.481C>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."