Varaico: Literature-Extracted Genetic Variants

Gene:INPP4A
Variant:p.M343I

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.M343I
c.1029G>C
Surrounding Variants
1 paper
NM_001134225.2
p.M343I
c.1029G>A
1 paper
NM_001134225.2
p.M343I
c.1029G>T
1 paper
NM_001134225.2
p.D348N
c.1042G>A
1 paper
NM_001134225.2
p.F333C
c.998T>G
1 paper
NM_001134225.2
p.D328fs
c.982_983fs
1 paper
NM_001134225.2
p.A327delFs
c.981delA
2 papers
NM_001134225.2
p.S319L
c.956C>T
1 paper
NM_001134225.2
p.Y355N
c.1063T>A
1 paper
NM_001134225.2
p.Y355Y
c.1065C>T
1 paper
NM_001134225.2
p.I360T
c.1079T>C
1 paper
NM_001134225.2
p.R376H
c.1127G>A
1 paper
NM_001134225.2
p.F382L
c.1144T>C
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