Varaico: Literature-Extracted Genetic Variants

Gene:INPP5E
Variant:p.S386*

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.S386*
c.1157C>A
Surrounding Variants
1 paper
NM_019892.6
p.S386*
c.1157C>G
1 paper
NM_019892.6
p.E387Q
c.1159G>C
3 papers
NM_019892.6
p.C385Y
c.1154G>A
1 paper
NM_019892.6
p.W383L
c.1148G>T
1 paper
NM_019892.6
p.W383R
c.1147T>C
1 paper
NM_019892.6
p.W383R
c.1147T>A
2 papers
NM_019892.6
p.E387Splc
c.1159+8C>T
1 paper
NM_019892.6
p.I382M
c.1146C>G
1 paper
NM_019892.6
p.D380A
c.1139A>C
5 papers
NM_019892.6
p.R378H
c.1133G>A
22 papers
NM_019892.6
p.R378C
c.1132C>T
1 paper
NM_019892.6
p.R378S
c.1132C>A
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