Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.A86T
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CDKN2A

NM_000077.5:p.A86T

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-2.pdf

Genetic risk factors in melanoma etiopathogenesis and the role of genetic counseling: A concise review.

Serman N et al.

Bosnian Journal of Basic Medical Sciences, 2022

Informing patients about their mutation tests: CDKN2A c.256G>A in melanoma as an example.

Hemminki K et al.

Hereditary Cancer in Clinical Practice, 2020

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

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

Bruno W et al.

Journal of the American Academy of Dermatology, 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."