Varaico: Literature-Extracted Genetic Variants

Gene:INPP4A
Variant:p.M112I

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
2 papers
NM_001134225.2
p.M112I
c.336G>A
Surrounding Variants
2 papers
NM_001134225.2
p.M112I
c.336G>C
2 papers
NM_001134225.2
p.M112I
c.336G>T
1 paper
NM_001134225.2
p.S118delFs
c.352_353delTC
1 paper
NM_001134225.2
p.S118fs
c.352_353fs
1 paper
NM_001134225.2
p.D124Y
c.370G>T
1 paper
NM_001134225.2
p.Q127*
c.379C>T
1 paper
NM_001134225.2
p.N93S
c.278A>G
1 paper
NM_001134225.2
p.Y131C
c.392A>G
1 paper
NM_001134225.2
p.G134V
c.401G>T
1 paper
NM_001134225.2
p.T137T
c.411G>A
1 paper
NM_001134225.2
p.E159K
c.475G>A
2 papers
NM_001134225.2
p.W171*
c.512G>A
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