Varaico: Literature-Extracted Genetic Variants

Gene:ITPKB
Variant:p.P552Q

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
11 papers
NM_002221.4
p.P552Q
c.1655C>A
Surrounding Variants
1 paper
NM_002221.4
p.P552insFs
c.1655_1656insA
1 paper
NM_002221.4
p.P552fs
c.1654_1655fs
1 paper
NM_002221.4
p.D551delFs
c.1653delA
1 paper
NM_002221.4
p.D551fs
c.1651_1652fs
1 paper
NM_002221.4
p.P555S
c.1663C>T
1 paper
NM_002221.4
p.P545A
c.1633C>G
1 paper
NM_002221.4
p.C561C
c.1683C>T
1 paper
NM_002221.4
p.P563S
c.1687C>T
1 paper
NM_002221.4
p.S564T
c.1691G>C
1 paper
NM_002221.4
p.R536_D540delFs
c.1608_1618del11
1 paper
NM_002221.4
p.N565S
c.1694A>G
1 paper
NM_002221.4
p.Q537R
c.1610A>G
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