Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.R80L
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CDKN2A

NM_000077.5:p.R80L

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-2.pdf

Genomic profiling informs therapies and prognosis for patients with hepatocellular carcinoma in clinical practice.

Song M et al.

Bmc Cancer, 2024

38825709 (PubMed )
Supplement: 12885_2024_12407_MOESM2_ESM.xlsx › Table_S3

Sequence and Structure-Based Analyses of Human Ankyrin Repeats.

Chakrabarty B et al.

Molecules (basel, Switzerland), 2022

35056738 (PubMed )
Supplement: molecules-27-00423-s001.zip › SupplementaryFileS4.xlsx › Sheet1

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

Classifying variants of CDKN2A using computational and laboratory studies.

Miller PJ et al.

Human Mutation, 2011

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

Yang G et al.

The Journal of Investigative Dermatology, 2005

Biologic and biochemical analyses of p16(INK4a) mutations from primary tumors.

Yarbrough WG et al.

Journal of the National Cancer Institute, 1999

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."