Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2C
Variant:p.L107V

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
3 papers
NM_078626.3
p.L107V
c.319T>G
Surrounding Variants
1 paper
NM_078626.3
p.H108L
c.323A>T
1 paper
NM_078626.3
p.L105L
c.313C>T
1 paper
NM_078626.3
p.N104K
c.312C>A
1 paper
NM_078626.3
p.N104K
c.312C>G
2 papers
NM_078626.3
p.L109W
c.326T>G
1 paper
NM_078626.3
p.A110T
c.328G>A
1 paper
NM_078626.3
p.A110V
c.329C>T
1 paper
NM_078626.3
p.G103W
c.307G>T
1 paper
NM_078626.3
p.E102A
c.305A>C
1 paper
NM_078626.3
p.K112delFs
c.335delA
1 paper
NM_078626.3
p.K112_E113del1
c.335_337delAAG
1 paper
NM_078626.3
p.E102*
c.304G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."