Varaico: Literature-Extracted Genetic Variants

Gene:ERLIN2
Variant:p.V92A

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.V92A
c.275T>C
Surrounding Variants
1 paper
NM_007175.8
p.V92M
c.274G>A
1 paper
NM_007175.8
p.N93fs
c.277_278fs
1 paper
NM_007175.8
p.N93_L95delFs
c.278_284del7
1 paper
NM_007175.8
p.V91M
c.271G>A
1 paper
NM_007175.8
p.P97L
c.290C>T
1 paper
NM_007175.8
p.N98S
c.293A>G
1 paper
NM_007175.8
p.A99V
c.296C>T
7 papers
NM_007175.8
p.V100Splc
c.298+1G>T
1 paper
NM_007175.8
p.V100Splc
c.298+5G>A
1 paper
NM_007175.8
p.S79Splc
c.237-1G>A
1 paper
NM_007175.8
p.V100Splc
c.299-3C>T
1 paper
NM_007175.8
p.I103T
c.308T>C
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