Varaico: Literature-Extracted Genetic Variants

Gene:ITPKB
Variant:p.A417T

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.A417T
c.1249G>A
Surrounding Variants
2 papers
NM_002221.4
p.L418R
c.1253T>G
1 paper
NM_002221.4
p.S420_V421insFs
c.1260_1261ins5
1 paper
NM_002221.4
p.V421insFs
c.1261_1262insCC
1 paper
NM_002221.4
p.V421fs
c.1261_1262fs
1 paper
NM_002221.4
p.S408_W411del4
c.1222_1232del12
1 paper
NM_002221.4
p.S410R
c.1230C>G
1 paper
NM_002221.4
p.S410R
c.1230C>A
2 papers
NM_002221.4
p.S410N
c.1229G>A
1 paper
NM_002221.4
p.S410R
c.1228A>C
1 paper
NM_002221.4
p.S408F
c.1223C>T
1 paper
NM_002221.4
p.S408Y
c.1223C>A
12 papers
NM_002221.4
p.S408A
c.1222T>G
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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."