Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.D116N
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CDKN2A

NM_000077.5:p.D116N

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

Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes.

Matolweni LO et al.

Bmc Medical Genetics, 2006

Recurrent patterns of dual RB and p53 pathway inactivation in melanoma.

Yang G et al.

The Journal of Investigative Dermatology, 2005

Detailed computational study of p53 and p16: using evolutionary sequence analysis and disease-associated mutations to predict the functional consequences of allelic variants.

Greenblatt MS 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."