Varaico: Literature-Extracted Genetic Variants

Gene:ITPKB
Variant:p.N144N

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.N144N
c.432C>T
Surrounding Variants
1 paper
NM_002221.4
p.K146_V147insA
c.436_440ins3
1 paper
NM_002221.4
p.V147A
c.440T>C
2 papers
NM_002221.4
p.V141M
c.421G>A
1 paper
NM_002221.4
p.G148D
c.443G>A
1 paper
NM_002221.4
p.N140K
c.420C>G
2 papers
NM_002221.4
p.N140K
c.420C>A
2 papers
NM_002221.4
p.M149I
c.447G>T
3 papers
NM_002221.4
p.M149I
c.447G>C
2 papers
NM_002221.4
p.M149I
c.447G>A
1 paper
NM_002221.4
p.Q139*
c.415C>T
1 paper
NM_002221.4
p.G148_E151delFs
c.444_451del8
1 paper
NM_002221.4
p.G148_E151del0
c.444_452del9
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."