Varaico: Literature-Extracted Genetic Variants

Gene:ITPKB
Variant:p.A7_N9delFs

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.A7_N9delFs
c.20_26del7
Surrounding Variants
1 paper
NM_002221.4
p.L11Q
c.32T>A
2 papers
NM_002221.4
p.L8F
c.22C>T
1 paper
NM_002221.4
p.L8V
c.22C>G
1 paper
NM_002221.4
p.A7fs
c.19_20fs
2 papers
NM_002221.4
p.Y6F
c.17A>T
1 paper
NM_002221.4
p.I13T
c.38T>C
1 paper
NM_002221.4
p.C5W
c.15C>G
1 paper
NM_002221.4
p.C5fs
c.13_14fs
1 paper
NM_002221.4
p.C5*
c.15C>A
1 paper
NM_002221.4
p.C5Y
c.14G>A
1 paper
NM_002221.4
p.M14I
c.42G>T
1 paper
NM_002221.4
p.M14I
c.42G>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."