Varaico: Literature-Extracted Genetic Variants

Gene:ITPKC

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
1–12 of 58 variants
3 papers
NM_025194.3
p.G385_S386Splc
c.1155+9G>C
2 papers
NM_025194.3
p.G103E
c.308G>A
2 papers
NM_025194.3
p.D364E
c.1092C>A
2 papers
NM_025194.3
p.D364E
c.1092C>G
2 papers
NM_025194.3
p.G458V
c.1373G>T
2 papers
NM_025194.3
p.T543I
c.1628C>T
2 papers
NM_025194.3
p.E555K
c.1663G>A
1 paper
NM_025194.3
p.G55R
c.163G>A
1 paper
NM_025194.3
p.G55R
c.163G>C
1 paper
NM_025194.3
p.G57R
c.169G>A
1 paper
NM_025194.3
p.G57R
c.169G>C
1 paper
NM_025194.3
p.G64E
c.191G>A
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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."