Varaico: Literature-Extracted Genetic Variants

Gene:ERLIN2
Variant:p.V136G

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.V136G
c.407T>G
Surrounding Variants
1 paper
NM_007175.8
p.E139Q
c.415G>C
4 papers
NM_007175.8
p.T132M
c.395C>T
1 paper
NM_007175.8
p.F141I
c.421T>A
1 paper
NM_007175.8
p.F141fs
c.421_422fs
8 papers
NM_007175.8
p.S129T
c.386G>C
5 papers
NM_007175.8
p.N125S
c.374A>G
1 paper
NM_007175.8
p.L124L
c.372G>C
1 paper
NM_007175.8
p.K119R
c.356A>G
1 paper
NM_007175.8
p.N118T
c.353A>C
1 paper
NM_007175.8
p.A114Fs
c.341delinsCTGTGFs
1 paper
NM_007175.8
p.D110E
c.330C>A
1 paper
NM_007175.8
p.D110E
c.330C>G
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