Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2C
Variant:p.R117delins

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
Selected Variant
1 paper
NM_078626.3
p.R117delins
c.350_351delinsCT
Surrounding Variants
1 paper
NM_078626.3
p.R117Q
c.350G>A
1 paper
NM_078626.3
p.R117P
c.350G>C
1 paper
NM_078626.3
p.R117L
c.350G>T
1 paper
NM_078626.3
p.R117W
c.349C>T
1 paper
NM_078626.3
p.L116F
c.346C>T
1 paper
NM_078626.3
p.V119L
c.355G>C
1 paper
NM_078626.3
p.V119L
c.355G>T
5 papers
NM_078626.3
p.G114G
c.342C>T
1 paper
NM_078626.3
p.G114_V119delins
c.342_355delinsTCACCTCCGGGTGC
1 paper
NM_078626.3
p.E120K
c.358G>A
1 paper
NM_078626.3
p.E120insFs
c.359dupA
1 paper
NM_078626.3
p.E120*
c.358G>T
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