Varaico: Literature-Extracted Genetic Variants

Gene:ITPKB
Variant:p.A519T

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.A519T
c.1555G>A
Surrounding Variants
1 paper
NM_002221.4
p.A519fs
c.1555_1556fs
1 paper
NM_002221.4
p.V526fs
c.1576_1577fs
1 paper
NM_002221.4
p.G511D
c.1532G>A
1 paper
NM_002221.4
p.Q527R
c.1580A>G
1 paper
NM_002221.4
p.W509*
c.1527G>A
1 paper
NM_002221.4
p.S528*
c.1583C>G
1 paper
NM_002221.4
p.S528*
c.1583C>A
1 paper
NM_002221.4
p.W509*
c.1526G>A
1 paper
NM_002221.4
p.R507S
c.1521G>T
1 paper
NM_002221.4
p.R507S
c.1521G>C
1 paper
NM_002221.4
p.R507_V508insA
c.1519_1523ins3
1 paper
NM_002221.4
p.R536fs
c.1606_1607fs
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