Varaico: Literature-Extracted Genetic Variants

Gene:INPP5E
Variant:p.V303M

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.V303M
c.907G>A
Surrounding Variants
1 paper
NM_019892.6
p.V303insFs
c.908_909insC
1 paper
NM_019892.6
p.F302_V303delFs
c.906_907delCG
1 paper
NM_019892.6
p.L301_F302insFs
c.903_904insA
2 papers
NM_019892.6
p.L301P
c.902T>C
1 paper
NM_019892.6
p.A304fs
c.910_911fs
1 paper
NM_019892.6
p.L301F
c.901C>T
1 paper
NM_019892.6
p.A304insFs
c.911_912insC
4 papers
NM_019892.6
p.T305I
c.914C>T
1 paper
NM_019892.6
p.W306R
c.916T>C
1 paper
NM_019892.6
p.W306R
c.916T>A
1 paper
NM_019892.6
p.N298Y
c.892A>T
1 paper
NM_019892.6
p.M308V
c.922A>G
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