Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2C
Variant:p.F82C

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.F82C
c.245T>G
Surrounding Variants
1 paper
NM_078626.3
p.L83_T85delFs
c.247_253del7
1 paper
NM_078626.3
p.G81S
c.241G>A
1 paper
NM_078626.3
p.L83L
c.249G>T
6 papers
NM_078626.3
p.D84N
c.250G>A
3 papers
NM_078626.3
p.D84H
c.250G>C
1 paper
NM_078626.3
p.D84Y
c.250G>T
1 paper
NM_078626.3
p.D84A
c.251A>C
1 paper
NM_078626.3
p.T85N
c.254C>A
1 paper
NM_078626.3
p.A78T
c.232G>A
1 paper
NM_078626.3
p.Q87fs
c.259_260fs
1 paper
NM_078626.3
p.Q87*
c.259C>T
2 papers
NM_078626.3
p.A77E
c.230C>A
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