Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2C
Variant:p.N129Y

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.N129Y
c.385A>T
Surrounding Variants
1 paper
NM_078626.3
p.S128R
c.384C>A
1 paper
NM_078626.3
p.S128R
c.384C>G
1 paper
NM_078626.3
p.S128N
c.383G>A
1 paper
NM_078626.3
p.S128R
c.382A>C
1 paper
NM_078626.3
p.S128C
c.382A>T
1 paper
NM_078626.3
p.V130M
c.388G>A
1 paper
NM_078626.3
p.V130A
c.389T>C
1 paper
NM_078626.3
p.G131delFs
c.393delG
1 paper
NM_078626.3
p.A127S
c.379G>T
1 paper
NM_078626.3
p.T126K
c.377C>A
2 papers
NM_078626.3
p.T126M
c.377C>T
1 paper
NM_078626.3
p.R133_D138delFs
c.397_413del17
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