Varaico: Literature-Extracted Genetic Variants

Gene:INPP5E
Variant:p.R621G

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
1 paper
NM_019892.6
p.R621G
c.1861C>G
Surrounding Variants
6 papers
NM_019892.6
p.R621W
c.1861C>T
12 papers
NM_019892.6
p.R621Q
c.1862G>A
11 papers
NM_019892.6
p.Q627*
c.1879C>T
2 papers
NM_019892.6
p.E612V
c.1835A>T
1 paper
NM_019892.6
p.E612A
c.1835A>C
1 paper
NM_019892.6
p.D610A
c.1829A>C
1 paper
NM_019892.6
p.D610H
c.1828G>C
2 papers
NM_019892.6
p.Q633fs
c.1897_1898fs
5 papers
NM_019892.6
p.Q633*
c.1897C>T
1 paper
NM_019892.6
p.Q633E
c.1897C>G
1 paper
NM_019892.6
p.Q633insFs
c.1898_1899insGG
1 paper
NM_019892.6
p.Q633_S634insFs
c.1899_1900insT
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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."