Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.A5V
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CDKN2A

NM_000077.5:p.A5V

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-supp11.xlsx › Appendix_1-table_11

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

Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.

Pu X et al.

Cell & Bioscience, 2023

37964396 (PubMed )
Supplement: 13578_2023_1156_MOESM13_ESM.xls › 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_MOESM3_ESM.pdf

Genomic Alterations in Human Papillomavirus-Positive and -Negative Conjunctival Squamous Cell Carcinomas.

Ramberg I et al.

Investigative Ophthalmology & Visual Science, 2021

34779821 (PubMed )
Supplement: iovs-62-14-11_s001.pdf

Enrichment of short mutant cell-free DNA fragments enhanced detection of pancreatic cancer.

Liu X et al.

Ebiomedicine, 2019

30857943 (PubMed )
Supplement: mmc3.xlsx › mutations_detected_in_cfDNA

Competitive evolution of NSCLC tumor clones and the drug resistance mechanism of first-generation EGFR-TKIs in Chinese NSCLC patients.

Deng Q et al.

Heliyon, 2018

30603682 (PubMed )
Supplement: mmc2.xlsx › Raw_reads_info

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

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

25780468 (PubMed )
Supplement: 13053_2014_472_MOESM2_ESM.xlsx › Sheet1

The impact of pharmacogenetics on radiation therapy outcome in cancer patients. A focus on DNA damage response genes.

Borchiellini D et al.

Cancer Treatment Reviews, 2012

Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling.

McWilliams RR et al.

European Journal of Human Genetics : Ejhg, 2011

CDKN2A mutations and melanoma risk in the Icelandic population.

Goldstein AM et al.

Journal of Medical Genetics, 2008

CDKN2A germline mutations in individuals with cutaneous malignant melanoma.

Orlow I et al.

The Journal of Investigative Dermatology, 2007

Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma.

Soufir N et al.

British Journal of Cancer, 2004

Screening of N-ras codon 61 mutations in paired primary and metastatic cutaneous melanomas: mutations occur early and persist throughout tumor progression.

Omholt K et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2002

CDKN2A germ-line mutations in individuals with multiple cutaneous melanomas.

Hashemi J et al.

Cancer Research, 2000

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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."