Varaico: Literature-Extracted Genetic Variants

Gene:ITPKB
Variant:p.C178W

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.C178W
c.534C>G
Surrounding Variants
2 papers
NM_002221.4
p.C178R
c.532T>C
1 paper
NM_002221.4
p.P177delFs
c.530delG
1 paper
NM_002221.4
p.P177L
c.530C>T
1 paper
NM_002221.4
p.P177A
c.529C>G
1 paper
NM_002221.4
p.R181G
c.541C>G
1 paper
NM_002221.4
p.S174_F180delFs
c.522_540del19
5 papers
NM_002221.4
p.S176P
c.526T>C
1 paper
NM_002221.4
p.Q157_R173delFs
c.471_517del47
6 papers
NM_002221.4
p.R173H
c.518G>A
1 paper
NM_002221.4
p.S184C
c.550A>T
1 paper
NM_002221.4
p.R171S
c.513G>T
1 paper
NM_002221.4
p.R171S
c.513G>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."