Varaico: Literature-Extracted Genetic Variants

Gene:INPP4A
Variant:p.W522*

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.W522*
c.1565G>A
Surrounding Variants
1 paper
NM_001134225.2
p.W522*
c.1566G>A
1 paper
NM_001134225.2
p.R510*
c.1528C>T
1 paper
NM_001134225.2
p.S509N
c.1526G>A
1 paper
NM_001134225.2
p.D496fs
c.1486_1487fs
1 paper
NM_001134225.2
p.D496_R507delFs
c.1486_1519del34
1 paper
NM_001134225.2
p.M492I
c.1476G>A
1 paper
NM_001134225.2
p.M492I
c.1476G>C
1 paper
NM_001134225.2
p.M492I
c.1476G>T
1 paper
NM_001134224.2
p.E528fs
c.1582_1583fs
1 paper
NM_001134225.2
p.W526*
c.1577G>A
1 paper
NM_001134225.2
p.W526*
c.1578G>A
1 paper
NM_001134225.2
p.K542*
c.1624A>T
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