Varaico: Literature-Extracted Genetic Variants

Gene:ITPKB
Variant:p.M14I

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.M14I
c.42G>T
Surrounding Variants
1 paper
NM_002221.4
p.M14I
c.42G>C
1 paper
NM_002221.4
p.M14I
c.42G>A
1 paper
NM_002221.4
p.I13T
c.38T>C
1 paper
NM_002221.4
p.S16R
c.46A>C
2 papers
NM_002221.4
p.S16N
c.47G>A
1 paper
NM_002221.4
p.S16R
c.48C>G
1 paper
NM_002221.4
p.S16R
c.48C>A
1 paper
NM_002221.4
p.A17P
c.49G>C
1 paper
NM_002221.4
p.A17T
c.49G>A
1 paper
NM_002221.4
p.S16_A17delins
c.47_49delinsTAT
1 paper
NM_002221.4
p.A17G
c.50C>G
1 paper
NM_002221.4
p.L11Q
c.32T>A
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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."