Varaico: Literature-Extracted Genetic Variants

Gene:IRAG2
Variant:p.L265S

IRAG2

36 papers

RefSeq Summary

The protein encode dby this gene is expressed in a developmentally regulated manner in lymphoid cell lines and tissues. The protein is localized to the cytoplasmic face of the endoplasmic reticulum. [...

Pfam Domains

MRVI1aa 1–446UCSCMRVI1 protein

Gene Aliases

HGNC Name

inositol 1,4,5-triphosphate receptor associated 2

HGNC Previous Symbol

LRMP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001366544.2
p.L265S
c.794T>C
Surrounding Variants
1 paper
NM_001366544.2
p.I259V
c.775A>G
1 paper
NM_001366544.2
p.L276F
c.828A>C
1 paper
NM_001366544.2
p.L276F
c.828A>T
1 paper
NM_001366544.2
p.E277Q
c.829G>C
1 paper
NM_001366544.2
p.L279P
c.836T>C
1 paper
NM_001366544.2
p.K280T
c.839A>C
1 paper
NM_001366544.2
p.D295delFs
c.883delG
1 paper
NM_001366544.2
p.D295insFs
c.884dupA
1 paper
NM_001366544.2
p.R304H
c.911G>A
1 paper
NM_001366544.2
p.S305*
c.914C>A
1 paper
NM_001366544.2
p.S305*
c.914C>G
1 paper
NM_001366544.2
p.L352F
c.1056G>C
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