Varaico: Literature-Extracted Genetic Variants

Gene:ITPKB
Variant:p.A54A

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.A54A
c.162C>G
Surrounding Variants
1 paper
NM_002221.4
p.S55P
c.163T>C
1 paper
NM_002221.4
p.R52_A54delFs
c.156_160del5
1 paper
NM_002221.4
p.F56F
c.168C>T
1 paper
NM_002221.4
p.L57F
c.169C>T
1 paper
NM_002221.4
p.R52G
c.154A>G
1 paper
NM_002221.4
p.G51G
c.153G>T
2 papers
NM_002221.4
p.F58L
c.172T>C
2 papers
NM_002221.4
p.F58L
c.174C>G
1 paper
NM_002221.4
p.F58fs
c.172_173fs
1 paper
NM_002221.4
p.F58L
c.174C>A
1 paper
NM_002221.4
p.F58_P59delFs
c.172_175del4
1 paper
NM_002221.4
p.S49insFs
c.146_147insA
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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."