Varaico: Literature-Extracted Genetic Variants

Gene:ERLIN2
Variant:p.M266I

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.M266I
c.798G>A
Surrounding Variants
1 paper
NM_007175.8
p.M266I
c.798G>C
1 paper
NM_007175.8
p.M266I
c.798G>T
1 paper
NM_007175.8
p.K267E
c.799A>G
5 papers
NM_007175.8
p.A271insFs
c.812_813insAC
1 paper
NM_007175.8
p.A271insFs
c.812_813ins2
3 papers
NM_007175.8
p.N272fs
c.814_815fs
1 paper
NM_007175.8
p.K273K
c.819G>A
1 paper
NM_007175.8
p.K273_L274Splc
c.819+3A>G
1 paper
NM_007175.8
p.L251V
c.751C>G
1 paper
NM_007175.8
p.P278_M284del7
c.832_851del21
4 papers
NM_007175.8
p.K287_S291insFs
c.860_873dup14
1 paper
NM_007175.8
p.K287fs
c.859_860fs
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