Varaico: Literature-Extracted Genetic Variants

Gene:INPP5E
Variant:p.R292H

INPP5E

218 papers

RefSeq Summary

The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messe...

Pfam Domains

Exo_endo_phos2aa 304–590UCSCEndonuclease/Exonuclease/phosphatase family 2

Gene Aliases

HGNC Name

inositol polyphosphate-5-phosphatase E

HGNC Previous Symbol

JBTS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_019892.6
p.R292H
c.875G>A
Surrounding Variants
4 papers
NM_019892.6
p.R292G
c.874C>G
1 paper
NM_019892.6
p.R297W
c.889C>T
1 paper
NM_019892.6
p.N298Y
c.892A>T
10 papers
NM_019892.6
p.G286R
c.856G>C
10 papers
NM_019892.6
p.G286R
c.856G>A
1 paper
NM_019892.6
p.L301F
c.901C>T
2 papers
NM_019892.6
p.L301P
c.902T>C
3 papers
NM_019892.6
p.A283V
c.848C>T
1 paper
NM_019892.6
p.A283T
c.847G>A
1 paper
NM_019892.6
p.L301_F302insFs
c.903_904insA
4 papers
NM_019892.6
p.G282R
c.844G>C
4 papers
NM_019892.6
p.G282R
c.844G>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."