Varaico: Literature-Extracted Genetic Variants

Gene:ITPRIP
Variant:p.G128delFs

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.G128delFs
c.383delC
Surrounding Variants
1 paper
NM_001272013.2
p.A129fs
c.385_386fs
1 paper
NM_001272013.2
p.L131fs
c.391_392fs
1 paper
NM_001272013.2
p.E119*
c.355G>T
1 paper
NM_001272013.2
p.G118S
c.352G>A
1 paper
NM_001272013.2
p.A140D
c.419C>A
1 paper
NM_001272013.2
p.C115S
c.344G>C
1 paper
NM_001272013.2
p.C115S
c.343T>A
1 paper
NM_001272013.2
p.Q108H
c.324G>T
1 paper
NM_001272013.2
p.Q108H
c.324G>C
1 paper
NM_001272013.2
p.D106G
c.317A>G
1 paper
NM_001272013.2
p.A158P
c.472G>C
1 paper
NM_001272013.2
p.L96F
c.286C>T
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