Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.E2Q
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CDKN2A

NM_000077.5:p.E2Q

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-11.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

A germline mutation of p14/ARF in a melanoma kindred.

Garcia-Casado Z et al.

Melanoma Research, 2009

Population-based prevalence of CDKN2A mutations in Utah melanoma families.

Eliason MJ et al.

The Journal of Investigative Dermatology, 2006

Germline splicing mutations of CDKN2A predispose to melanoma.

Loo JC et al.

Oncogene, 2003

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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."