Varaico: Literature-Extracted Genetic Variants

Gene:ITPKB
Variant:p.M257I

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.M257I
c.771G>A
Surrounding Variants
1 paper
NM_002221.4
p.M257I
c.771G>T
1 paper
NM_002221.4
p.M257fs
c.769_770fs
1 paper
NM_002221.4
p.M257I
c.771G>C
1 paper
NM_002221.4
p.E258Q
c.772G>C
1 paper
NM_002221.4
p.G260R
c.778G>C
1 paper
NM_002221.4
p.G260S
c.778G>A
1 paper
NM_002221.4
p.G250D
c.749G>A
1 paper
NM_002221.4
p.R266H
c.797G>A
2 papers
NM_002221.4
p.S246*
c.737C>G
2 papers
NM_002221.4
p.S246*
c.737C>A
1 paper
NM_002221.4
p.P270R
c.809C>G
1 paper
NM_002221.4
p.A272P
c.814G>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."