Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2C
Variant:p.D67H

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.D67H
c.199G>C
Surrounding Variants
5 papers
NM_078626.3
p.D67N
c.199G>A
1 paper
NM_078626.3
p.D67A
c.200A>C
4 papers
NM_078626.3
p.R68*
c.202C>T
1 paper
NM_078626.3
p.R68L
c.203G>T
2 papers
NM_078626.3
p.T69A
c.205A>G
2 papers
NM_078626.3
p.D64G
c.191A>G
1 paper
NM_078626.3
p.D64N
c.190G>A
1 paper
NM_078626.3
p.D64_L65insA
c.190_194ins3
1 paper
NM_078626.3
p.G70C
c.208G>T
1 paper
NM_078626.3
p.P63A
c.187C>G
5 papers
NM_078626.3
p.A72P
c.214G>C
1 paper
NM_078626.3
p.A72V
c.215C>T
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