Varaico: Literature-Extracted Genetic Variants

Gene:ITPKC
Variant:p.D379_E381ins1

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.D379_E381ins1
c.1137_1142dup6
Surrounding Variants
3 papers
NM_025194.3
p.G385_S386Splc
c.1155+9G>C
2 papers
NM_025194.3
p.D364E
c.1092C>A
2 papers
NM_025194.3
p.D364E
c.1092C>G
1 paper
NM_025194.3
p.P346T
c.1036C>A
1 paper
NM_025194.3
p.V344A
c.1031T>C
1 paper
NM_025194.3
p.E299K
c.895G>A
1 paper
NM_025194.3
p.D292N
c.874G>A
1 paper
NM_025194.3
p.A288E
c.863C>A
1 paper
NM_025194.3
p.G275R
c.823G>C
1 paper
NM_025194.3
p.G265G
c.795T>C
1 paper
NM_025194.3
p.G248S
c.742G>A
1 paper
NM_025194.3
p.I237N
c.710T>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."