Varaico: Literature-Extracted Genetic Variants

Gene:INPP4A
Variant:p.E159K

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.E159K
c.475G>A
Surrounding Variants
2 papers
NM_001134225.2
p.W171*
c.512G>A
2 papers
NM_001134225.2
p.W171*
c.513G>A
1 paper
NM_001134225.2
p.E174Q
c.520G>C
1 paper
NM_001134225.2
p.V190I
c.568G>A
1 paper
NM_001134225.2
p.E200G
c.599A>G
1 paper
NM_001134225.2
p.L202M
c.604T>A
1 paper
NM_001134225.2
p.R209*
c.625C>T
2 papers
NM_001134225.2
p.R216*
c.646C>T
2 papers
NM_001134225.2
p.R216Q
c.647G>A
1 paper
NM_001134225.2
p.D218Y
c.652G>T
1 paper
NM_001134225.2
p.D218G
c.653A>G
1 paper
NM_001134225.2
p.L221insFs
c.662_663ins10
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