Varaico: Literature-Extracted Genetic Variants

Gene:ITPRIP
Variant:p.G241S

ITPRIP

55 papers

RefSeq Summary

This gene encodes a membrane-associated protein that binds the inositol 1,4,5-trisphosphate receptor (ITPR). The encoded protein enhances the sensitivity of ITPR to intracellular calcium signaling. Al...

Pfam Domains

Mab-21_Caa 404–483UCSCMab-21 protein HhH/H2TH-like domain

Gene Aliases

HGNC Name

inositol 1,4,5-trisphosphate receptor interacting protein

HGNC Previous Symbol

KIAA1754

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001272013.2
p.G241S
c.721G>A
Surrounding Variants
1 paper
NM_001272013.2
p.Q238H
c.714G>T
1 paper
NM_001272013.2
p.Q238H
c.714G>C
1 paper
NM_001272013.2
p.I243I
c.729C>T
1 paper
NM_001272013.2
p.P234S
c.700C>T
1 paper
NM_001272013.2
p.Y220C
c.659A>G
1 paper
NM_001272013.2
p.L270L
c.808C>T
1 paper
NM_001272013.2
p.M276K
c.827T>A
1 paper
NM_001272013.2
p.V193M
c.577G>A
1 paper
NM_001272013.2
p.L293L
c.879G>A
1 paper
NM_001272013.2
p.E186A
c.557A>C
1 paper
NM_001272013.2
p.D182N
c.544G>A
1 paper
NM_001272013.2
p.R181W
c.541C>T
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