Varaico: Literature-Extracted Genetic Variants

Gene:ITPKC
Variant:p.G520E

ITPKC

59 papers

RefSeq Summary

This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphat...

Pfam Domains

IPKaa 467–592UCSCInositol polyphosphate kinase
IPKaa 587–654UCSCInositol polyphosphate kinase

Gene Aliases

HGNC Name

inositol-trisphosphate 3-kinase C

HGNC Alias Symbols

IP3KC; IP3-3KC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025194.3
p.G520E
c.1559G>A
Surrounding Variants
1 paper
NM_025194.3
p.P506T
c.1516C>A
1 paper
NM_025194.3
p.R536H
c.1607G>A
2 papers
NM_025194.3
p.T543I
c.1628C>T
1 paper
NM_025194.3
p.T491S
c.1472C>G
1 paper
NM_025194.3
p.T491S
c.1471A>T
2 papers
NM_025194.3
p.E555K
c.1663G>A
1 paper
NM_025194.3
p.T571M
c.1712C>T
1 paper
NM_025194.3
p.F584L
c.1750T>C
1 paper
NM_025194.3
p.F584L
c.1752C>A
1 paper
NM_025194.3
p.F584L
c.1752C>G
1 paper
NM_025194.3
p.G587E
c.1760G>A
1 paper
NM_025194.3
p.A475T
c.1423G>A
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