Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2C
Variant:p.K136N

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.K136N
c.408G>C
Surrounding Variants
1 paper
NM_078626.3
p.K136N
c.408G>T
1 paper
NM_078626.3
p.G137V
c.410G>T
2 papers
NM_078626.3
p.D138fs
c.412_413fs
1 paper
NM_078626.3
p.D138insFs
c.413_414insAC
1 paper
NM_078626.3
p.N134T
c.401A>C
1 paper
NM_078626.3
p.R133Q
c.398G>A
1 paper
NM_078626.3
p.A140T
c.418G>A
1 paper
NM_078626.3
p.R133R
c.397C>A
1 paper
NM_078626.3
p.R133fs
c.397_398fs
1 paper
NM_078626.3
p.R133_D138delFs
c.397_413del17
2 papers
NM_078626.3
p.C141Y
c.422G>A
1 paper
NM_078626.3
p.D142fs
c.424_425fs
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