Varaico: Literature-Extracted Genetic Variants

Gene:INPP5E
Variant:p.Q506*

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.Q506*
c.1516C>T
Surrounding Variants
1 paper
NM_019892.6
p.Q506K
c.1516C>A
1 paper
NM_019892.6
p.H507N
c.1519C>A
1 paper
NM_019892.6
p.H507H
c.1521C>T
1 paper
NM_019892.6
p.P502P
c.1506G>A
1 paper
NM_019892.6
p.L510F
c.1528C>T
1 paper
NM_019892.6
p.L510insFs
c.1528dupC
13 papers
NM_019892.6
p.R512W
c.1534C>T
5 papers
NM_001318502.2
p.R511Q
c.1532G>A
NM_019892.6
p.R512Q
c.1535G>A
1 paper
NM_019892.6
p.V499L
c.1495G>T
1 paper
NM_019892.6
p.E513G
c.1538A>G
1 paper
NM_001318502.2
p.R514fs
c.1540_1541fs
14 papers
NM_019892.6
p.R515W
c.1543C>T
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