Varaico: Literature-Extracted Genetic Variants

Gene:ITPKB
Variant:p.E444_L452del9

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.E444_L452del9
c.1330_1355del27
Surrounding Variants
1 paper
NM_002221.4
p.E444_G451del8
c.1330_1352del24
1 paper
NM_002221.4
p.E444_G451del0
c.1331_1351del21
1 paper
NM_002221.4
p.S456S
c.1368C>T
1 paper
NM_002221.4
p.A459P
c.1375G>C
3 papers
NM_002221.4
p.P461S
c.1381C>T
1 paper
NM_002221.4
p.W437*
c.1311G>A
1 paper
NM_002221.4
p.W437*
c.1310G>A
1 paper
NM_002221.4
p.R436fs
c.1306_1307fs
1 paper
NM_002221.4
p.R436H
c.1307G>A
1 paper
NM_002221.4
p.V432A
c.1295T>C
1 paper
NM_002221.4
p.A430delFs
c.1289delG
1 paper
NM_002221.4
p.A430G
c.1289C>G
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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."