Varaico: Literature-Extracted Genetic Variants

Gene:INPP4A
Variant:p.A750T

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.A750T
c.2248G>A
Surrounding Variants
1 paper
NM_001134225.2
p.T745A
c.2233A>G
1 paper
NM_001134225.2
p.V755F
c.2263G>T
1 paper
NM_001134225.2
p.Q743*
c.2227C>T
1 paper
NM_001134225.2
p.R760C
c.2278C>T
1 paper
NM_001134225.2
p.E725K
c.2173G>A
1 paper
NM_001134225.2
p.E720K
c.2158G>A
1 paper
NM_001134225.2
p.G762R
c.2284G>A
1 paper
NM_001134225.2
p.L777*
c.2330T>A
1 paper
NM_001134225.2
p.G784D
c.2351G>A
1 paper
NM_001134225.2
p.L793F
c.2377C>T
1 paper
NM_001134225.2
p.N795N
c.2385C>T
1 paper
NM_001134225.2
p.E806K
c.2416G>A
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