Varaico: Literature-Extracted Genetic Variants

Gene:INPP5E
Variant:p.Y543*

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
10 papers
NM_019892.6
p.Y543*
c.1629C>G
Surrounding Variants
10 papers
NM_019892.6
p.Y543*
c.1629C>A
1 paper
NM_019892.6
p.T551M
c.1652C>T
8 papers
NM_019892.6
p.Y534D
c.1600T>G
1 paper
NM_019892.6
p.H529Y
c.1585C>T
3 papers
NM_019892.6
p.P526L
c.1577C>T
1 paper
NM_019892.6
p.P526T
c.1576C>A
5 papers
NM_019892.6
p.G522A
c.1565G>C
1 paper
NM_019892.6
p.S518fs
c.1552_1553fs
1 paper
NM_019892.6
p.S518P
c.1552T>C
1 paper
NM_019892.6
p.D556A
c.1667A>C
3 papers
NM_019892.6
p.D556E
c.1668C>G
3 papers
NM_019892.6
p.D556E
c.1668C>A
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