Varaico: Literature-Extracted Genetic Variants

Gene:ITPKC
Variant:p.G57R

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.G57R
c.169G>C
Surrounding Variants
1 paper
NM_025194.3
p.G57R
c.169G>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.G64E
c.191G>A
1 paper
NM_025194.3
p.W90C
c.270G>C
1 paper
NM_025194.3
p.W90C
c.270G>T
1 paper
NM_025194.3
p.G103R
c.307G>A
1 paper
NM_025194.3
p.G103R
c.307G>C
2 papers
NM_025194.3
p.G103E
c.308G>A
1 paper
NM_025194.3
p.D116H
c.346G>C
1 paper
NM_025194.3
p.R117T
c.350G>C
1 paper
NM_025194.3
p.S129S
c.387A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."