Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.A127V
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CDKN2A

NM_000077.5:p.A127V

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

Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.

Manca A et al.

Journal of Translational Medicine, 2019

31455347 (PubMed )
Supplement: 12967_2019_2039_MOESM1_ESM.xlsx › Discovery_cohort_nsyn_variants

Folding kinetics of the cooperatively folded subdomain of the IκBα ankyrin repeat domain.

DeVries I et al.

Journal of Molecular Biology, 2011

Functional evaluation of tumour-specific variants of p16INK4a/CDKN2A: correlation with protein structure information.

Ruas M et al.

Oncogene, 1999

Point mutations can inactivate in vitro and in vivo activities of p16(INK4a)/CDKN2A in human glioma.

Arap W et al.

Oncogene, 1997

The CDKN2A (p16) gene and human cancer.

Foulkes WD et al.

Molecular Medicine (cambridge, Mass.), 1997

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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."