Varaico: Literature-Extracted Genetic Variants

Gene:ITPKB
Variant:p.S31N

ITPKB

172 papers

RefSeq Summary

The protein encoded by this protein regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of this encoded protein ...

Pfam Domains

IPKaa 726–937UCSCInositol polyphosphate kinase

Gene Aliases

HGNC Name

inositol-trisphosphate 3-kinase B

HGNC Alias Symbols

IP3KB; IP3-3KB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002221.4
p.S31N
c.92G>A
Surrounding Variants
5 papers
NM_002221.4
p.S31_E32delFs
c.92_95del4
1 paper
NM_002221.4
p.P36S
c.106C>T
1 paper
NM_002221.4
p.P36H
c.107C>A
1 paper
NM_002221.4
p.P37L
c.110C>T
1 paper
NM_002221.4
p.G24S
c.70G>A
2 papers
NM_002221.4
p.S22T
c.65G>C
1 paper
NM_002221.4
p.S22N
c.65G>A
1 paper
NM_002221.4
p.K21E
c.61A>G
1 paper
NM_002221.4
p.L42V
c.124C>G
1 paper
NM_002221.4
p.E19D
c.57G>T
2 papers
NM_002221.4
p.E19D
c.57G>C
2 papers
NM_002221.4
p.N18I
c.53A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."