Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2C
Variant:p.L9S

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.L9S
c.26T>C
Surrounding Variants
1 paper
NM_078626.3
p.L9M
c.25T>A
1 paper
NM_078626.3
p.A10T
c.28G>A
1 paper
NM_078626.3
p.A10G
c.29C>G
1 paper
NM_078626.3
p.S11Y
c.32C>A
1 paper
NM_078626.3
p.A12T
c.34G>A
1 paper
NM_078626.3
p.W5R
c.13T>A
1 paper
NM_078626.3
p.W5R
c.13T>C
1 paper
NM_078626.3
p.A14_G16del3
c.40_47del9
1 paper
NM_078626.3
p.W5_G6del1
c.14_16delGGG
1 paper
NM_078626.3
p.A14S
c.40G>T
1 paper
NM_078626.3
p.R15insFs
c.44dupG
1 paper
NM_078626.3
p.R15fs
c.43_44fs
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