Varaico: Literature-Extracted Genetic Variants

Gene:ITPRIP
Variant:p.L359V

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.L359V
c.1075C>G
Surrounding Variants
1 paper
NM_001272013.2
p.P374S
c.1120C>T
1 paper
NM_001272013.2
p.Q327*
c.979C>T
1 paper
NM_001272013.2
p.A403T
c.1207G>A
2 papers
NM_001272013.2
p.Q305Q
c.915G>A
1 paper
NM_001272013.2
p.M301V
c.901A>G
1 paper
NM_001272013.2
p.G424S
c.1270G>A
1 paper
NM_001272013.2
p.L293L
c.879G>A
1 paper
NM_001272013.2
p.G427R
c.1279G>C
1 paper
NM_001272013.2
p.G427R
c.1279G>A
1 paper
NM_001272013.2
p.M276K
c.827T>A
1 paper
NM_001272013.2
p.L270L
c.808C>T
1 paper
NM_001272013.2
p.R457G
c.1369C>G
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