Varaico: Literature-Extracted Genetic Variants

Gene:ITPKB
Variant:p.E199*

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.E199*
c.595G>T
Surrounding Variants
3 papers
NM_002221.4
p.S197R
c.591C>G
4 papers
NM_002221.4
p.S197R
c.591C>A
3 papers
NM_002221.4
p.S197R
c.589A>C
1 paper
NM_002221.4
p.A195V
c.584C>T
1 paper
NM_002221.4
p.K203M
c.608A>T
1 paper
NM_002221.4
p.S204S
c.612C>A
1 paper
NM_002221.4
p.Q193*
c.577C>T
1 paper
NM_002221.4
p.W205S
c.614G>C
3 papers
NM_002221.4
p.V192I
c.574G>A
1 paper
NM_002221.4
p.L191_V192delins
c.573_574delinsAA
1 paper
NM_002221.4
p.L191L
c.573G>A
1 paper
NM_002221.4
p.E207K
c.619G>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."