Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2C

CDKN2C

276 papers

RefSeq Summary

The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to interact with CDK4 or CDK6, and prevent the activation of the CDK ...

Pfam Domains

Ank_2aa 9–100UCSCAnkyrin repeats (3 copies)
Ank_2aa 74–166UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

cyclin dependent kinase inhibitor 2C

HGNC Alias Symbols

INK4C; p18

Papers
RefSeq ID
Protein change
DNA change
1–12 of 216 variants
7 papers
NM_078626.3
p.V31L
c.91G>C
6 papers
NM_078626.3
p.D84N
c.250G>A
5 papers
NM_078626.3
p.D67N
c.199G>A
5 papers
NM_078626.3
p.A72P
c.214G>C
5 papers
NM_078626.3
p.G114G
c.342C>T
4 papers
NM_078626.3
p.R68*
c.202C>T
3 papers
NM_078626.3
p.Q43_V44Splc
c.129+1G>T
3 papers
NM_078626.3
p.D76A
c.227A>C
3 papers
NM_078626.3
p.D84H
c.250G>C
3 papers
NM_078626.3
p.L107V
c.319T>G
2 papers
NM_078626.3
p.E3K
c.7G>A
2 papers
NM_078626.3
p.E19A
c.56A>C
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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."