Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.A57S
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CDKN2A

NM_000077.5:p.A57S

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-fig2-figsupp3-data1.xlsx › Figure_2-figure_supplement_3A

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

Distinct senescence mechanisms restrain progression of dysplastic nevi.

Lorbeer FK et al.

Pnas Nexus, 2024

38371417 (PubMed )
Supplement: pgae041_supplementary_data.zip › PNASNEXUS-PNASNEXUS-2023-00943R-s05.pdf

Distinct senescence mechanisms restrain progression of dysplastic nevi.

Lorbeer FK et al.

Biorxiv : the Preprint Server for Biology, 2023

BRAF(V600E) Kinase Domain Duplication Identified in Therapy-Refractory Melanoma Patient-Derived Xenografts.

Kemper K et al.

Cell Reports, 2016

27320919 (PubMed )
Supplement: mmc2.xlsx › Mutation_matrix

Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanoma.

Pedace L et al.

Cancer Epidemiology, 2011

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