Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2D
Variant:p.A57V
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CDKN2D

NM_001800.4:p.A57V

Associated Papers

Structural analysis of the impact of germline mutations of p16 in melanoma prone families.

Arun D et al.

Molecular Diversity, 2025

Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions.

Jenkins NC et al.

The Journal of Investigative Dermatology, 2013

Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.

Kannengiesser C et al.

Human Mutation, 2009

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

Soufir N et al.

British Journal of Cancer, 2004

Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group.

Soufir N et al.

Human Molecular Genetics, 1998

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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."