Varaico: Literature-Extracted Genetic Variants

Gene:INPP5E
Variant:p.S460C

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
2 papers
NM_019892.6
p.S460C
c.1379C>G
Surrounding Variants
2 papers
NM_019892.6
p.R459C
c.1375C>T
1 paper
NM_019892.6
p.A462V
c.1385C>T
2 papers
NM_019892.6
p.A463Splc
c.1387+2T>G
1 paper
NM_019892.6
p.T455N
c.1364C>A
1 paper
NM_019892.6
p.D454N
c.1360G>A
1 paper
NM_019892.6
p.V443E
c.1328T>A
1 paper
NM_019892.6
p.V443I
c.1327G>A
2 papers
NM_019892.6
p.R435R
c.1305G>A
19 papers
NM_019892.6
p.R435Q
c.1304G>A
7 papers
NM_019892.6
p.R435W
c.1303C>T
4 papers
NM_019892.6
p.R435G
c.1303C>G
1 paper
NM_019892.6
p.G428G
c.1284T>C
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