Varaico: Literature-Extracted Genetic Variants

Gene:ERLIN2
Variant:p.G298R

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.G298R
c.892G>C
Surrounding Variants
1 paper
NM_007175.8
p.G298S
c.892G>A
9 papers
NM_007175.8
p.D300V
c.899A>T
1 paper
NM_007175.8
p.S293G
c.877A>G
1 paper
NM_007175.8
p.A290V
c.869C>T
4 papers
NM_007175.8
p.I289T
c.866T>C
4 papers
NM_007175.8
p.K287_S291insFs
c.860_873dup14
1 paper
NM_007175.8
p.K287fs
c.859_860fs
3 papers
NM_007175.8
p.A309V
c.926C>T
1 paper
NM_007175.8
p.P278_M284del7
c.832_851del21
1 paper
NM_007175.8
p.D321Y
c.961G>T
1 paper
NM_007175.8
p.T334M
c.1001C>T
1 paper
NM_007175.8
p.K273_L274Splc
c.819+3A>G
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