Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2C
Variant:p.L122_V123delins

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.L122_V123delins
c.366_367delinsTA
Surrounding Variants
1 paper
NM_078626.3
p.L122_V123delins
c.366_367delinsCA
2 papers
NM_078626.3
p.V123M
c.367G>A
1 paper
NM_078626.3
p.L122P
c.365T>C
1 paper
NM_078626.3
p.L122fs
c.364_365fs
1 paper
NM_078626.3
p.V123E
c.368T>A
1 paper
NM_078626.3
p.V123V
c.369G>C
1 paper
NM_078626.3
p.F121S
c.362T>C
1 paper
NM_078626.3
p.F121delFs
c.363delC
1 paper
NM_078626.3
p.F121fs
c.361_362fs
1 paper
NM_078626.3
p.F121fs
c.361_362fs
1 paper
NM_078626.3
p.E120K
c.358G>A
1 paper
NM_078626.3
p.E120insFs
c.359dupA
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