Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2C
Variant:p.D76N

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.D76N
c.226G>A
Surrounding Variants
1 paper
NM_078626.3
p.D76Y
c.226G>T
3 papers
NM_078626.3
p.D76A
c.227A>C
1 paper
NM_078626.3
p.D76G
c.227A>G
1 paper
NM_078626.3
p.D76V
c.227A>T
1 paper
NM_078626.3
p.H75P
c.224A>C
1 paper
NM_078626.3
p.H75N
c.223C>A
2 papers
NM_078626.3
p.H75Y
c.223C>T
2 papers
NM_078626.3
p.A77E
c.230C>A
1 paper
NM_078626.3
p.A77V
c.230C>T
1 paper
NM_078626.3
p.I74I
c.222T>A
1 paper
NM_078626.3
p.A78T
c.232G>A
1 paper
NM_078626.3
p.V73_A80del0
c.219_239del21
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