Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.G23D
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CDKN2A

NM_000077.5:p.G23D

Associated Papers

Integrating evidence from protein domains to identify cancer driver mutations.

Ostroverkhova D et al.

Protein Science : a Publication of the Protein Society, 2026

41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1

Structural analysis of the impact of germline mutations of p16 in melanoma prone families.

Arun D et al.

Molecular Diversity, 2025

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

A Next-Generation BRAF Inhibitor Overcomes Resistance to BRAF Inhibition in Patients with BRAF-Mutant Cancers Using Pharmacokinetics-Informed Dose Escalation.

Yaeger R et al.

Cancer Discovery, 2024

38691346 (PubMed )
Supplement: cd-24-0024_table_s5_suppst5.pdf

Expanding Broad Molecular Reflex Testing in Non-Small Cell Lung Cancer to Squamous Histology.

Zacharias M et al.

Cancers, 2024

38473263 (PubMed )
Supplement: cancers-16-00903-s001.zip › TableS2.xlsx › Tabelle

EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.

Li Z et al.

Bmc Pulmonary Medicine, 2022

36123678 (PubMed )
Supplement: 12890_2022_2161_MOESM2_ESM.xlsx › OAK_POPLAR_btmb_variants

Mutational Signature and Integrative Genomic Analysis of Human Papillomavirus-Associated Penile Squamous Cell Carcinomas from Latin American Patients.

Canto LM et al.

Cancers, 2022

35884575 (PubMed )
Supplement: cancers-14-03514-s001.zip › cancers-1775552-supplementary.pdf

Sequence and Structure-Based Analyses of Human Ankyrin Repeats.

Chakrabarty B et al.

Molecules (basel, Switzerland), 2022

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

Study on Early Onset Melanoma and Germ-Line Mutation in CDKN2A among Patients in Imam Khomeini Hospital Complex.

Ferdosi S et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2021

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

CDKN2A-Inactivated Pancreatic Ductal Adenocarcinoma Exhibits Therapeutic Sensitivity to Paclitaxel: A Bioinformatics Study.

Lin JC et al.

Journal of Clinical Medicine, 2020

33322698 (PubMed )
Supplement: jcm-09-04019-s001.zip › jcm-1006906supple › Table-S1-TCGA-data.xlsx › _e__SKCM

KIT/PDGFRA/KDR amplification defines a novel molecular subtype of adenoid cystic carcinoma patients who may benefit from treatment with tyrosine kinase inhibitors.

Hou H et al.

Translational Cancer Research, 2020

Regulation of Tumor Suppressor Gene CDKN2A and Encoded p16-INK4a Protein by Covalent Modifications.

Jiao Y et al.

Biochemistry. Biokhimiia, 2018

Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI.

Carraro M et al.

Human Mutation, 2017

Epidemiology and genetic susceptibility of malignant melanoma in North Sardinia, Italy.

Cossu A et al.

European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ecp), 2017

The CDKN2A/p16(INK) (4a) 5'UTR sequence and translational regulation: impact of novel variants predisposing to melanoma.

Andreotti V et al.

Pigment Cell & Melanoma Research, 2016

Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup.

Bruno W et al.

Journal of the American Academy of Dermatology, 2016

Absence of germline CDKN2A mutation in Sicilian patients with familial malignant melanoma: Could it be a population-specific genetic signature?

Di Lorenzo S et al.

Cancer Biology & Therapy, 2016

Epidemiological features and prognostic parameters of multiple primary melanomas in CDKN2A-mutations patients.

De Giorgi V et al.

Pigment Cell & Melanoma Research, 2015

Increased Aggregation Is More Frequently Associated to Human Disease-Associated Mutations Than to Neutral Polymorphisms.

De Baets G et al.

Plos Computational Biology, 2015

CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment.

Scaini MC et al.

Human Mutation, 2014

Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom.

Harland M et al.

Hereditary Cancer in Clinical Practice, 2014

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

Genomic sequencing of key genes in mouse pancreatic cancer cells.

Wang Y et al.

Current Molecular Medicine, 2012

Classifying variants of CDKN2A using computational and laboratory studies.

Miller PJ et al.

Human Mutation, 2011

Contribution of susceptibility gene variants to melanoma risk in families from the Veneto region of Italy.

Menin C et al.

Pigment Cell & Melanoma Research, 2011

The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors.

Stehr H et al.

Molecular Cancer, 2011

21575214 (PubMed )
Supplement: 1476-4598-10-54-S3.XLS › mutations.txt

Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK.

Cust AE et al.

Journal of Medical Genetics, 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 impairment of p16(INK4A) due to CDKN2A p.Gly23Asp missense mutation.

Scaini MC et al.

Mutation Research, 2009

Clinical genetic testing for familial melanoma in Italy: a cooperative study.

Bruno W et al.

Journal of the American Academy of Dermatology, 2009

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

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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."