Varaico: Literature-Extracted Genetic Variants

Gene:ITPKB
Variant:p.S327A

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.S327A
c.979T>G
Surrounding Variants
1 paper
NM_002221.4
p.R331P
c.992G>C
1 paper
NM_002221.4
p.R331H
c.992G>A
4 papers
NM_002221.4
p.A322T
c.964G>A
1 paper
NM_002221.4
p.E334_D335ins4
c.1000_1004ins12
1 paper
NM_002221.4
p.Q319*
c.955C>T
1 paper
NM_002221.4
p.H316Q
c.948C>G
1 paper
NM_002221.4
p.H316Q
c.948C>A
1 paper
NM_002221.4
p.P315S
c.943C>T
1 paper
NM_002221.4
p.V343M
c.1027G>A
1 paper
NM_002221.4
p.A307S
c.919G>T
1 paper
NM_002221.4
p.V343_Q346del4
c.1027_1037del12
1 paper
NM_002221.4
p.G297_T304del8
c.889_911del24
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."