Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.I49S
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CDKN2A

NM_000077.5:p.I49S

Associated Papers

Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc4.xlsx › Table_S10B

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

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

Significance of TP53, CDKN2A, SMAD4 and KRAS in Pancreatic Cancer.

Stefanoudakis D et al.

Current Issues in Molecular Biology, 2024

Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.

Pantaleo A et al.

Cancers, 2023

38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › CDKN2A

RBFOX2 modulates a metastatic signature of alternative splicing in pancreatic cancer.

Jbara A et al.

Nature, 2023

36949200 (PubMed )
Supplement: NIHMS1897967-supplement-1897967_Supp_table_1.xlsx › clin_data_PDA_Patients

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

The LOVD3 platform: efficient genome-wide sharing of genetic variants.

Fokkema IFAC et al.

European Journal of Human Genetics : Ejhg, 2021

34521998 (PubMed )
Supplement: 41431_2021_959_MOESM4_ESM.pdf

The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma.

Hubert JN et al.

Cancers, 2021

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

Chan SH et al.

Hereditary Cancer in Clinical Practice, 2021

Genomic Signature of Oral Squamous Cell Carcinomas from Non-Smoking Non-Drinking Patients.

Koo K et al.

Cancers, 2021

33804510 (PubMed )
Supplement: cancers-13-01029-s001.zip › Supplementary_Data.xlsx › Somatic_mutations

Integrated Analysis of Genomic and Immunological Features in Lung Adenocarcinoma With Micropapillary Component.

Zhang S et al.

Frontiers in Oncology, 2021

34221970 (PubMed )
Supplement: Table_3.xlsx › Supplementary_Table_S3

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

Lost in translation: returning germline genetic results in genome-scale cancer research.

Johns AL et al.

Genome Medicine, 2017

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

p16 gene mutations in Barrett's esophagus in gastric metaplasia - intestinal metaplasia - dysplasia - adenocarcinoma sequence.

Mokrowiecka A et al.

Advances in Medical Sciences, 2012

EDNRB gene variants and melanoma risk in two southern European populations.

Spica T et al.

Clinical and Experimental Dermatology, 2011

Classifying variants of CDKN2A using computational and laboratory studies.

Miller PJ et al.

Human Mutation, 2011

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

McKenzie HA et al.

Human Mutation, 2010

[Polymorphism/loss of heterozygosity of APC gene in GERD-Barrett's metaplasia-dysplasia-adenocarcinoma sequence].

Mokrowiecka A et al.

Polski Merkuriusz Lekarski : Organ Polskiego Towarzystwa Lekarskiego, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File006.xls › TypeI_

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

CDKN2A germline mutations in individuals with cutaneous malignant melanoma.

Orlow I et al.

The Journal of Investigative Dermatology, 2007

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

The prevalence of CDKN2A germ-line mutations and relative risk for cutaneous malignant melanoma: an international population-based study.

Berwick M et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2006

MELPREDICT: a logistic regression model to estimate CDKN2A carrier probability.

Niendorf KB et al.

Journal of Medical Genetics, 2006

Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample.

Begg CB et al.

Journal of the National Cancer Institute, 2005

Usefulness of p16 and K-ras mutation in pancreatic adenocarcinoma and chronic pancreatitis differential diagnosis.

Talar-Wojnarowska R et al.

Journal of Physiology and Pharmacology : an Official Journal of the Polish Physiological Society, 2004

Familial melanoma, pancreatic cancer and germline CDKN2A mutations.

Goldstein AM

Human Mutation, 2004

Familial pancreatic carcinoma in Jews.

Lynch HT et al.

Familial Cancer, 2004

Geographical variation in the penetrance of CDKN2A mutations for melanoma.

Bishop DT et al.

Journal of the National Cancer Institute, 2002

Rarity of CDK4 germline mutations in familial melanoma.

Goldstein AM et al.

Melanoma Research, 2002

Mutation screening of the CDKN2A promoter in melanoma families.

Harland M et al.

Genes, Chromosomes & Cancer, 2000

Patients with both pancreatic adenocarcinoma and melanoma may harbor germline CDKN2A mutations.

Lal G et al.

Genes, Chromosomes & Cancer, 2000

Inherited predisposition to pancreatic adenocarcinoma: role of family history and germ-line p16, BRCA1, and BRCA2 mutations.

Lal G et al.

Cancer Research, 2000

CDKN2A (P16(INK4a)) and CDK4 mutation analysis in 131 Australian melanoma probands: effect of family history and multiple primary melanomas.

Holland EA et al.

Genes, Chromosomes & Cancer, 1999

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."