Varaico: Literature-Extracted Genetic Variants

Gene:INPP4A
Variant:p.M915delFs

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.M915delFs
c.2744delT
Surrounding Variants
1 paper
NM_001134225.2
p.Q910*
c.2728C>T
1 paper
NM_001134224.2
p.Q915delFs
c.2744delA
1 paper
NM_001134225.2
p.I908delFs
c.2723delT
1 paper
NM_001134225.2
p.C906Y
c.2717G>A
1 paper
NM_001134224.2
p.L908delFs
c.2723delT
1 paper
NM_001134225.2
p.M927K
c.2780T>A
2 papers
NM_001134224.2
p.R901H
c.2702G>A
NM_001134225.2
p.R896H
c.2687G>A
2 papers
NM_001134224.2
p.R901P
c.2702G>C
NM_001134225.2
p.R896P
c.2687G>C
1 paper
NM_001134225.2
p.W873*
c.2619G>A
1 paper
NM_001134225.2
p.W873*
c.2618G>A
1 paper
NM_001351424.1
p.L908delFs
c.2723delT
1 paper
NM_001566.2
p.S908delFs
c.2723delG
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