Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.A60P
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CDKN2A

NM_000077.5:p.A60P

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

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

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

New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a patient receiving levodopa treatment.

Kannengiesser C et al.

Genes, Chromosomes & Cancer, 2007

Frequent p16INK4A/CDKN2A alterations in chemically induced Syrian golden hamster pancreatic tumors.

Li J et al.

Carcinogenesis, 2004

Identification of a 428-kb homozygously deleted region disrupting the SEZ6L gene at 22q12.1 in a lung cancer cell line.

Nishioka M et al.

Oncogene, 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."