Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.A60S
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CDKN2A

NM_000077.5:p.A60S

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-supp9.xlsx › Appendix_1-table_9

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

Dark Morph of the Oriental Honey-Buzzard (Pernis ptilorhynchus orientalis) is Attributable to Specific MC1R Haplotypes.

Ono H et al.

Zoological Science, 2024

Variants in melanocortin 1 receptor gene contribute to risk of melanoma--a direct sequencing analysis in a Texas population.

Guan X et al.

Pigment Cell & Melanoma Research, 2013

Molecular characterization of human cutaneous melanoma-derived cell lines.

Ogbah Z et al.

Anticancer Research, 2012

The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population.

Brudnik U et al.

Experimental Dermatology, 2009

CDKN2A and MC1R mutations in patients with sporadic multiple primary melanoma.

Peris K et al.

The Journal of Investigative Dermatology, 2004

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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."