Varaico: Literature-Extracted Genetic Variants

Gene:INPP5A
Variant:p.D179H

INPP5A

40 papers

RefSeq Summary

The protein encoded by this gene is a membrane-associated type I inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium ...

Gene Aliases

HGNC Name

inositol polyphosphate-5-phosphatase A

HGNC Alias Symbol

5PTASE

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005539.5
p.D179H
c.535G>C
Surrounding Variants
1 paper
NM_005539.5
p.C176Splc
c.528-2A>G
2 papers
NM_005539.5
p.R168W
c.502C>T
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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."