Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.A102T
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CDKN2A

NM_000077.5:p.A102T

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-supp10.xlsx › Appendix_1-table_10

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-11.pdf

Targeted Next-Generation Sequencing-Based Multiple Gene Mutation Profiling of Patients with Rectal Adenocarcinoma Receiving or Not Receiving Neoadjuvant Chemoradiotherapy.

Chang YK et al.

International Journal of Molecular Sciences, 2022

36142267 (PubMed )
Supplement: ijms-23-10353-s001.zip › ijms-1910530-supplementary.pdf

Sequence and Structure-Based Analyses of Human Ankyrin Repeats.

Chakrabarty B et al.

Molecules (basel, Switzerland), 2022

Discordance of PIK3CA and TP53 mutations between breast cancer brain metastases and matched primary tumors.

Thulin A et al.

Scientific Reports, 2021

34876602 (PubMed )
Supplement: 41598_2021_2903_MOESM1_ESM.xlsx › Blad1

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

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 Genomic Analysis of Pancreatic Ductal Adenocarcinomas Reveals Genomic Rearrangement Events as Significant Drivers of Disease.

Murphy SJ et al.

Cancer Research, 2016

Classifying variants of CDKN2A using computational and laboratory studies.

Miller PJ et al.

Human Mutation, 2011

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

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

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

Begg CB et al.

Journal of the National Cancer Institute, 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."