Varaico: Literature-Extracted Genetic Variants

Gene:CDK4
Variant:p.R24P
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CDK4

NM_000075.4:p.R24P

Associated Papers

Nanobodies restore stability to cancer-associated mutants of tumor suppressor protein p16INK4a.

Burbidge O et al.

Structure (london, England : 1993), 2025

Targeted sequencing analysis of loci implicated in familial melanoma in a Greek cohort.

Kypreou K et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2024

CDKN2A Gene Mutations: Implications for Hereditary Cancer Syndromes.

Danishevich A et al.

Biomedicines, 2023

High- and intermediate-risk susceptibility variants in melanoma families from the Mediterranean area: A multicentre cohort from the MelaNostrum Consortium.

Pellegrini C et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023

CDKN2A Polymorphism in Melanoma Patients in Colombian Population: A Case-Control Study.

Tovar-Parra JD et al.

Biomed Research International, 2020

Differential mechanisms of CDKN2A (p16) alteration in oral tongue squamous cell carcinomas and correlation with patient outcome.

Lim AM et al.

International Journal of Cancer, 2014

Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions.

Jenkins NC et al.

The Journal of Investigative Dermatology, 2013

Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.

Goldstein AM et al.

Journal of Medical Genetics, 2007

High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL.

Goldstein AM et al.

Cancer Research, 2006

Genetic susceptibility in familial melanoma from northeastern Italy.

Landi MT et al.

Journal of Medical Genetics, 2004

Functional impairment of melanoma-associated p16(INK4a) mutants in melanoma cells despite retention of cyclin-dependent kinase 4 binding.

Becker TM et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2001

Mutation testing in melanoma families: INK4A, CDK4 and INK4D.

Newton Bishop JA et al.

British Journal of Cancer, 1999

CDKN2A variants in a population-based sample of Queensland families with melanoma.

Aitken J et al.

Journal of the National Cancer Institute, 1999

Stability and folding of the tumour suppressor protein p16.

Tang KS et al.

Journal of Molecular Biology, 1999

Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group.

Soufir N et al.

Human Molecular Genetics, 1998

Germline mutations of the CDKN2 gene in UK melanoma families.

Harland M et al.

Human Molecular Genetics, 1997

The CDKN2A (p16) gene and human cancer.

Foulkes WD et al.

Molecular Medicine (cambridge, Mass.), 1997

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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."