Varaico: Literature-Extracted Genetic Variants

Gene:ITPKB
Variant:p.S85R

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.S85R
c.253A>C
Surrounding Variants
1 paper
NM_002221.4
p.S85T
c.254G>C
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.R81S
c.243G>T
1 paper
NM_002221.4
p.R80R
c.240C>G
1 paper
NM_002221.4
p.R80C
c.238C>T
1 paper
NM_002221.4
p.R70_G78del0
c.208_234del27
1 paper
NM_002221.4
p.L64_S77delFs
c.190_230del41
2 papers
NM_002221.4
p.S92ins1
c.275_276insTGG
1 paper
NM_002221.4
p.S77S
c.231C>T
1 paper
NM_002221.4
p.S92S
c.276C>T
1 paper
NM_002221.4
p.S88_S92delFs
c.264_276del13
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