Varaico: Literature-Extracted Genetic Variants

Gene:INPP5E
Variant:p.K580E

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.K580E
c.1738A>G
Surrounding Variants
9 papers
NM_019892.6
p.R585C
c.1753C>T
5 papers
NM_019892.6
p.R585H
c.1754G>A
3 papers
NM_019892.6
p.V587fs
c.1759_1760fs
1 paper
NM_019892.6
p.V587fs
c.1759_1760fs
4 papers
NM_019892.6
p.V587delFs
c.1760delA
5 papers
NM_019892.6
p.Y588C
c.1763A>G
2 papers
NM_019892.6
p.R592G
c.1774C>G
2 papers
NM_019892.6
p.R592Q
c.1775G>A
1 paper
NM_019892.6
p.G566V
c.1697G>T
1 paper
NM_019892.6
p.K594K
c.1782A>G
3 papers
NM_019892.6
p.V595fs
c.1783_1784fs
3 papers
NM_019892.6
p.R596T
c.1787G>C
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