Varaico: Literature-Extracted Genetic Variants

Gene:ITPRIP

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
1–12 of 56 variants
2 papers
NM_001272013.2
p.Q305Q
c.915G>A
1 paper
NM_001272013.2
p.M3L
c.7A>T
1 paper
NM_001272013.2
p.M3L
c.7A>C
1 paper
NM_001272013.2
p.P24L
c.71C>T
1 paper
NM_001272013.2
p.R25L
c.74G>T
1 paper
NM_001272013.2
p.R54C
c.160C>T
1 paper
NM_001272013.2
p.R54L
c.161G>T
1 paper
NM_001272013.2
p.R54H
c.161G>A
1 paper
NM_001272013.2
p.E56*
c.166G>T
1 paper
NM_001272013.2
p.R61R
c.183G>A
1 paper
NM_001272013.2
p.S90R
c.268A>C
1 paper
NM_001272013.2
p.S90R
c.270C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."