Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2C
Variant:p.L24L

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.L24L
c.72G>A
Surrounding Variants
1 paper
NM_078626.3
p.L24L
c.70T>C
1 paper
NM_078626.3
p.L24fs
c.70_71fs
1 paper
NM_078626.3
p.L25L
c.75G>A
2 papers
NM_078626.3
p.S23R
c.69T>A
1 paper
NM_078626.3
p.Q26*
c.76C>T
1 paper
NM_078626.3
p.Q26H
c.78A>C
1 paper
NM_078626.3
p.Q26H
c.78A>T
1 paper
NM_078626.3
p.T22N
c.65C>A
1 paper
NM_078626.3
p.T22fs
c.64_65fs
1 paper
NM_078626.3
p.N27S
c.80A>G
1 paper
NM_078626.3
p.T22insFs
c.64_65insA
1 paper
NM_078626.3
p.T22_S23delFs
c.64_67del4
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