Varaico: Literature-Extracted Genetic Variants

Gene:INPP4A
Variant:p.L947delFs

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_001566.2
p.L947delFs
c.2840delT
Surrounding Variants
1 paper
NM_001351424.1
p.Y947delFs
c.2840delA
1 paper
NM_001134225.2
p.S929Splc
c.2786+4603G>T
1 paper
NM_001566.2
p.D915delFs
c.2744delA
1 paper
NM_001566.2
p.D915fs
c.2743_2744fs
NM_001351424.1
p.D916fs
c.2746_2747fs
1 paper
NM_001351424.1
p.R915delFs
c.2744delG
1 paper
NM_001566.2
p.S908delFs
c.2723delG
1 paper
NM_001351424.1
p.L908delFs
c.2723delT
1 paper
NM_001134225.2
p.M927K
c.2780T>A
2 papers
NM_001134225.2
p.M915delFs
c.2744delT
1 paper
NM_001134225.2
p.Q910*
c.2728C>T
1 paper
NM_001134224.2
p.Q915delFs
c.2744delA
1 paper
NM_001134225.2
p.I908delFs
c.2723delT
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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."