Varaico: Literature-Extracted Genetic Variants

Gene:ITPKB
Variant:p.K231delFs

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.K231delFs
c.693delC
Surrounding Variants
1 paper
NM_002221.4
p.K232fs
c.694_695fs
1 paper
NM_002221.4
p.G233R
c.697G>C
1 paper
NM_002221.4
p.G233R
c.697G>A
1 paper
NM_002221.4
p.G233fs
c.697_698fs
1 paper
NM_002221.4
p.S228L
c.683C>T
1 paper
NM_002221.4
p.S228*
c.683C>A
1 paper
NM_002221.4
p.S227C
c.680C>G
1 paper
NM_002221.4
p.C226C
c.678C>T
1 paper
NM_002221.4
p.C226W
c.678C>G
1 paper
NM_002221.4
p.S224S
c.672C>T
2 papers
NM_002221.4
p.R240L
c.719G>T
1 paper
NM_002221.4
p.A241P
c.721G>C
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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."