Varaico: Literature-Extracted Genetic Variants

Gene:INPP4A
Variant:p.R19Q

INPP4A

93 papers

RefSeq Summary

This gene encodes an Mg++ independent enzyme that hydrolyzes the 4-position phosphate from the inositol ring of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate, and inositol 3,4-bi...

Pfam Domains

INPP4A_C2aa 401–661UCSCINPP4A four helix bundle domain

Gene Aliases

HGNC Name

inositol polyphosphate-4-phosphatase type I A

HGNC Previous Symbol

INPP4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001134225.2
p.R19Q
c.56G>A
Surrounding Variants
1 paper
NM_001134225.2
p.T22A
c.64A>G
1 paper
NM_001134225.2
p.T22N
c.65C>A
1 paper
NM_001134225.2
p.R15H
c.44G>A
1 paper
NM_001134225.2
p.A26V
c.77C>T
1 paper
NM_001134225.2
p.R9C
c.25C>T
1 paper
NM_001134225.2
p.L30L
c.88C>T
1 paper
NM_001134225.2
p.S7S
c.21C>T
1 paper
NM_001134225.2
p.A35T
c.103G>A
3 papers
NM_001134225.2
p.Q39*
c.115C>T
1 paper
NM_001134225.2
p.E43*
c.127G>T
1 paper
NM_001134225.2
p.L46delFs
c.137delT
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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."