Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.N71K
Back to variants list

CDKN2A

NM_000077.5:p.N71K

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-fig2-data1.xlsx › Raw_data_in_Figure_2B

The complexity of tobacco smoke-induced mutagenesis in head and neck cancer.

Torrens L et al.

Nature Genetics, 2025

40164736 (PubMed )
Supplement: 41588_2025_2134_MOESM4_ESM.xlsx › Supplementary_Table_15

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

Clinical Impact of Prospective Whole Genome Sequencing in Sarcoma Patients.

Schipper LJ et al.

Cancers, 2022

35053600 (PubMed )
Supplement: cancers-14-00436-s001.zip › Supplementary_data_-_Detailed_genomic_information_per_sample.xlsx › SNVs__MNVs__indels

Sequence and Structure-Based Analyses of Human Ankyrin Repeats.

Chakrabarty B et al.

Molecules (basel, Switzerland), 2022

35056738 (PubMed )
Supplement: molecules-27-00423-s001.zip › SupplementaryFileS4.xlsx › Sheet1

Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Asselta R et al.

Thoracic Cancer, 2021

33704917 (PubMed )
Supplement: TCA-12-1271-s003.xls › Foglio1

CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition.

Chan SH et al.

Hereditary Cancer in Clinical Practice, 2021

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

Genetic predisposition for multiple myeloma.

Pertesi M et al.

Leukemia, 2020

Frequent Genetic Aberrations in the CDK4 Pathway in Acral Melanoma Indicate the Potential for CDK4/6 Inhibitors in Targeted Therapy.

Kong Y et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

Constitutional mutation in CDKN2A is associated with long term survivorship in multiple myeloma: a case report.

Shah V et al.

Bmc Cancer, 2017

Genetic and epigenetic aberrations of p16 in feline primary neoplastic diseases and tumor cell lines of lymphoid and non-lymphoid origins.

Mochizuki H et al.

Veterinary Journal (london, England : 1997), 2017

Cross-cancer profiling of molecular alterations within the human autophagy interaction network.

Lebovitz CB et al.

Autophagy, 2015

26208877 (PubMed )
Supplement: kaup-11-09-1067362-s001.zip › 1067362_supplemental_files › 2014AUTO0485R1-s03.xlsx › LUAD-mutations

Molecular dynamics simulations and statistical coupling analysis reveal functional coevolution network of oncogenic mutations in the CDKN2A-CDK6 complex.

Wang J et al.

Febs Letters, 2013

Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family.

Maubec E et al.

Journal of the American Academy of Dermatology, 2012

Classifying variants of CDKN2A using computational and laboratory studies.

Miller PJ et al.

Human Mutation, 2011

Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study.

Demenais F et al.

Journal of the National Cancer Institute, 2010

20876876 (PubMed )
Supplement: supp_djq363_JNCI-09-1449R-Suppl_tables.pdf

Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A.

McKenzie HA et al.

Human Mutation, 2010

Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.

Kannengiesser C et al.

Human Mutation, 2009

In silico analysis of structural and functional consequences in p16INK4A by deleterious nsSNPs associated CDKN2A gene in malignant melanoma.

Rajasekaran R et al.

Biochimie, 2008

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

p16(INK4alpha)/exon 2 mutations in squamous cell carcinoma of the head and neck region.

Lehnerdt G et al.

Acta Oto-laryngologica, 2006

Recurrent patterns of dual RB and p53 pathway inactivation in melanoma.

Yang G et al.

The Journal of Investigative Dermatology, 2005

Melanocortin-1 receptor (MC1R) gene variants and dysplastic nevi modify penetrance of CDKN2A mutations in French melanoma-prone pedigrees.

Chaudru V et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2005

Familial melanoma, pancreatic cancer and germline CDKN2A mutations.

Goldstein AM

Human Mutation, 2004

Influence of genes, nevi, and sun sensitivity on melanoma risk in a family sample unselected by family history and in melanoma-prone families.

Chaudru V et al.

Journal of the National Cancer Institute, 2004

Geographical variation in the penetrance of CDKN2A mutations for melanoma.

Bishop DT et al.

Journal of the National Cancer Institute, 2002

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

Select a paper to view details
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."