Varaico: Literature-Extracted Genetic Variants

Gene:ITPKA
Variant:p.E273D

ITPKA

24 papers

RefSeq Summary

Regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of the inositol 1,4,5-trisphosphate 3-kinase is responsible ...

Pfam Domains

IPKaa 245–456UCSCInositol polyphosphate kinase

Gene Aliases

HGNC Name

inositol-trisphosphate 3-kinase A

HGNC Alias Symbols

IP3KA; IP3-3KA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002220.3
p.E273D
c.819G>C
Surrounding Variants
1 paper
NM_002220.3
p.E273D
c.819G>T
1 paper
NM_002220.3
p.K277Q
c.829A>C
1 paper
NM_002220.3
p.R268Splc
c.804-7C>T
1 paper
NM_002220.3
p.R281Q
c.842G>A
1 paper
NM_002220.3
p.H305H
c.915C>T
1 paper
NM_002220.3
p.M316V
c.946A>G
1 paper
NM_002220.3
p.E320G
c.959A>G
1 paper
NM_002220.3
p.V267I
c.799G>A
1 paper
NM_002220.3
p.G266G
c.798C>T
1 paper
NM_002220.3
p.L252H
c.755T>A
1 paper
NM_002220.3
p.L251fs
c.751_752fs
1 paper
NM_002220.3
p.S244R
c.732C>A
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