Varaico: Literature-Extracted Genetic Variants

Gene:ITPKB
Variant:p.S92ins1

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
2 papers
NM_002221.4
p.S92ins1
c.275_276insTGG
Surrounding Variants
1 paper
NM_002221.4
p.S92S
c.276C>T
1 paper
NM_002221.4
p.S88_S92delFs
c.264_276del13
1 paper
NM_002221.4
p.S86_S92delFs
c.258_276del19
1 paper
NM_002221.4
p.S95R
c.283A>C
1 paper
NM_002221.4
p.S95R
c.285T>G
1 paper
NM_002221.4
p.S95R
c.285T>A
7 papers
NM_002221.4
p.S92_S95del0
c.276_284del9
1 paper
NM_002221.4
p.S96N
c.287G>A
5 papers
NM_002221.4
p.S92_S95del4
c.274_284del12
1 paper
NM_002221.4
p.S85R
c.255C>G
1 paper
NM_002221.4
p.S85R
c.255C>A
1 paper
NM_002221.4
p.S99T
c.296G>C
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