Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2C
Variant:p.E151D

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
2 papers
NM_078626.3
p.E151D
c.453G>T
Surrounding Variants
2 papers
NM_078626.3
p.E151D
c.453G>C
1 paper
NM_078626.3
p.V152insFs
c.456dupT
1 paper
NM_078626.3
p.E151Q
c.451G>C
2 papers
NM_078626.3
p.E151*
c.451G>T
1 paper
NM_078626.3
p.V153_M156delFs
c.457_467del11
1 paper
NM_078626.3
p.V153fs
c.457_458fs
1 paper
NM_078626.3
p.R149K
c.446G>A
2 papers
NM_078626.3
p.S154N
c.461G>A
1 paper
NM_078626.3
p.L155fs
c.463_464fs
1 paper
NM_078626.3
p.G148R
c.442G>A
1 paper
NM_078626.3
p.L155P
c.464T>C
1 paper
NM_078626.3
p.Y147N
c.439T>A
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