Varaico: Literature-Extracted Genetic Variants

Gene:INPP5E
Variant:p.W474R

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
9 papers
NM_019892.6
p.W474R
c.1420T>A
Surrounding Variants
9 papers
NM_019892.6
p.W474R
c.1420T>C
2 papers
NM_019892.6
p.G476R
c.1426G>C
2 papers
NM_019892.6
p.G476R
c.1426G>A
12 papers
NM_019892.6
p.D477N
c.1429G>A
1 paper
NM_019892.6
p.D477G
c.1430A>G
1 paper
NM_019892.6
p.F469F
c.1407C>T
3 papers
NM_019892.6
p.R468C
c.1402C>T
1 paper
NM_019892.6
p.R481H
c.1442G>A
4 papers
NM_019892.6
p.V465I
c.1393G>A
2 papers
NM_019892.6
p.A463V
c.1388C>T
1 paper
NM_019892.6
p.A463Splc
c.1388-1G>C
6 papers
NM_019892.6
p.R486C
c.1456C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."