Varaico: Literature-Extracted Genetic Variants

Gene:ITPKB
Variant:p.R107*

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.R107*
c.319C>T
Surrounding Variants
1 paper
NM_002221.4
p.D109Y
c.325G>T
1 paper
NM_002221.4
p.D109E
c.327C>G
1 paper
NM_002221.4
p.D109E
c.327C>A
2 papers
NM_002221.4
p.A103P
c.307G>C
1 paper
NM_002221.4
p.Q111L
c.332A>T
1 paper
NM_002221.4
p.S99_W102delFs
c.297_304del8
1 paper
NM_002221.4
p.Q112fs
c.334_335fs
1 paper
NM_002221.4
p.Q112H
c.336G>T
1 paper
NM_002221.4
p.Q112insFs
c.334_335ins4
1 paper
NM_002221.4
p.Q112H
c.336G>C
1 paper
NM_002221.4
p.S101T
c.302G>C
1 paper
NM_002221.4
p.V113L
c.337G>T
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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."