Varaico: Literature-Extracted Genetic Variants

Gene:INPP4B
Variant:p.V125I

INPP4B

255 papers

RefSeq Summary

INPP4B encodes the inositol polyphosphate 4-phosphatase type II, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the in...

Pfam Domains

INPP4A_C2aa 400–611UCSCINPP4A four helix bundle domain

Gene Aliases

HGNC Name

inositol polyphosphate-4-phosphatase type II B

HGNC Previous Names

inositol polyphosphate-4-phosphatase, type II, 105kD; inositol polyphosphate-4-phosphatase, type II, 105kDa

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001101669.3
p.V125I
c.373G>A
Surrounding Variants
1 paper
NM_001101669.3
p.T124_V125Splc
c.373-2A>T
4 papers
NM_001101669.3
p.R126Q
c.377G>A
1 paper
NM_001101669.3
p.K134R
c.401A>G
1 paper
NM_001101669.3
p.G141G
c.423G>C
1 paper
NM_001101669.3
p.G141_R142Splc
c.423+2T>C
1 paper
NM_001101669.3
p.G141_R142Splc
c.423+87G>A
1 paper
NM_001101669.3
p.G141_R142Splc
c.423+106C>A
1 paper
NM_001101669.3
p.G141_R142Splc
c.424-196G>T
1 paper
NM_001101669.3
p.G141_R142Splc
c.424-94C>T
1 paper
NM_001101669.3
p.S143N
c.428G>A
1 paper
NM_001101669.3
p.G146R
c.436G>C
1 paper
NM_001101669.3
p.G146S
c.436G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."