Varaico: Literature-Extracted Genetic Variants

Gene:ITPKB
Variant:p.G284fs

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.G284fs
c.850_851fs
Surrounding Variants
2 papers
NM_002221.4
p.T285S
c.853A>T
6 papers
NM_002221.4
p.D276_G284del9
c.826_851del27
1 paper
NM_002221.4
p.R286fs
c.856_857fs
1 paper
NM_002221.4
p.G284_R286delFs
c.851_858del8
1 paper
NM_002221.4
p.L289delFs
c.865delG
1 paper
NM_002221.4
p.L289fs
c.865_866fs
2 papers
NM_002221.4
p.A290T
c.868G>A
1 paper
NM_002221.4
p.G279D
c.836G>A
1 paper
NM_002221.4
p.G279C
c.835G>T
3 papers
NM_002221.4
p.A290V
c.869C>T
1 paper
NM_002221.4
p.A290G
c.869C>G
1 paper
NM_002221.4
p.R278K
c.833G>A
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