Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.S140C
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CDKN2A

NM_000077.5:p.S140C

Associated Papers

Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.

Kimura H et al.

Elife, 2025

40238651 (PubMed )
Supplement: elife-95347-supp9.xlsx › Appendix_1-table_9

Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.

Kimura H et al.

Biorxiv : the Preprint Server for Biology, 2025

38234851 (PubMed )
Supplement: media-2.pdf

p16INK4A enhances the transcriptional and the apoptotic functions of p53 through DNA-dependent interaction.

Al-Khalaf HH et al.

Molecular Carcinogenesis, 2017

Regulatory mechanisms of tumor suppressor P16(INK4A) and their relevance to cancer.

Li J et al.

Biochemistry, 2011

GRIM-19 and p16(INK4a) synergistically regulate cell cycle progression and E2F1-responsive gene expression.

Sun P et al.

The Journal of Biological Chemistry, 2010

A common variant of CDKN2A (p16) predisposes to breast cancer.

Debniak T et al.

Journal of Medical Genetics, 2005

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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."