Varaico: Literature-Extracted Genetic Variants

Gene:INPP4B
Variant:p.D847E

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.D847E
c.2541C>G
Surrounding Variants
1 paper
NM_001101669.3
p.D847E
c.2541C>A
1 paper
NM_001101669.3
p.R848W
c.2542A>T
1 paper
NM_001101669.3
p.D847V
c.2540A>T
1 paper
NM_001101669.3
p.A845T
c.2533G>A
1 paper
NM_001101669.3
p.S850L
c.2549C>T
2 papers
NM_001101669.3
p.C842S
c.2525G>C
2 papers
NM_001101669.3
p.C842S
c.2524T>A
1 paper
NM_001101669.3
p.L855F
c.2563C>T
1 paper
NM_001101669.3
p.L855ins1
c.2564_2565insAGG
2 papers
NM_001101669.3
p.R838H
c.2513G>A
1 paper
NM_001101669.3
p.R838C
c.2512C>T
1 paper
NM_001101669.3
p.C858W
c.2574C>G
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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."