Varaico: Literature-Extracted Genetic Variants

Gene:INPP4A
Variant:p.M232I

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.M232I
c.696G>C
Surrounding Variants
1 paper
NM_001134225.2
p.M232I
c.696G>A
1 paper
NM_001134225.2
p.M232I
c.696G>T
1 paper
NM_001134225.2
p.F225F
c.675C>T
1 paper
NM_001134225.2
p.R244L
c.731G>T
1 paper
NM_001134225.2
p.A250A
c.750A>T
1 paper
NM_001134225.2
p.S255F
c.764C>T
1 paper
NM_001134225.2
p.V263M
c.787G>A
1 paper
NM_001134225.2
p.E268Q
c.802G>C
1 paper
NM_001134225.2
p.D270H
c.808G>C
1 paper
NM_001134225.2
p.K222I
c.665A>T
1 paper
NM_001134225.2
p.L221insFs
c.662_663ins10
1 paper
NM_001134225.2
p.D218G
c.653A>G
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