Varaico: Literature-Extracted Genetic Variants

Gene:ITPKB
Variant:p.A163T

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
3 papers
NM_002221.4
p.A163T
c.487G>A
Surrounding Variants
1 paper
NM_002221.4
p.A163S
c.487G>T
1 paper
NM_002221.4
p.Q162_A163delFs
c.484_487del4
1 paper
NM_002221.4
p.A156_A160del5
c.466_479del15
1 paper
NM_002221.4
p.A156_A160del0
c.468_479del12
1 paper
NM_002221.4
p.P167L
c.500C>T
1 paper
NM_002221.4
p.L169_G170insFs
c.507_508insA
1 paper
NM_002221.4
p.R171S
c.513G>T
1 paper
NM_002221.4
p.R171S
c.513G>C
1 paper
NM_002221.4
p.H153R
c.458A>G
6 papers
NM_002221.4
p.R173H
c.518G>A
1 paper
NM_002221.4
p.Q157_R173delFs
c.471_517del47
1 paper
NM_002221.4
p.G148_E151del0
c.444_452del9
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