Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.M52K
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CDKN2A

NM_000077.5:p.M52K

Associated Papers

Clinical and genetic features of multiple primary tumours cohorts with a renal cell carcinoma: Implications for molecular genetic investigations.

Zhang H et al.

International Journal of Cancer, 2025

40844318 (PubMed )
Supplement: IJC-157-2532-s001.pdf

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-supp7.xlsx › Appendix_1-table_7

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

Establishment and Thorough Characterization of Xenograft (PDX) Models Derived from Patients with Pancreatic Cancer for Molecular Analyses and Chemosensitivity Testing.

Behrens D et al.

Cancers, 2023

38136299 (PubMed )
Supplement: cancers-15-05753-s001.zip › Behrens_Cancers2023_SuppTables.xlsx › Table_S1

Germline RUNX1 variation and predisposition to childhood acute lymphoblastic leukemia.

Li Y et al.

The Journal of Clinical Investigation, 2021

Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Asselta R et al.

Thoracic Cancer, 2021

33704917 (PubMed )
Supplement: TCA-12-1271-s003.xls › Foglio1

The Gain-of-Function p53 R248W Mutant Promotes Migration by STAT3 Deregulation in Human Pancreatic Cancer Cells.

Klemke L et al.

Frontiers in Oncology, 2021

34178628 (PubMed )
Supplement: DataSheet_1.pdf

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.

Winter H et al.

Cancers, 2019

31795195 (PubMed )
Supplement: cancers-11-01895-s001.zip › ICC_ctDNA_Cancers_Supplementary_Table_5._50_cancer_gene_panel_information.xlsx › cms_106003

CDKN2A/P16INK4A variants association with breast cancer and their in-silico analysis.

Aftab A et al.

Breast Cancer (tokyo, Japan), 2019

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

Predicting the functional impact of protein mutations: application to cancer genomics.

Reva B et al.

Nucleic Acids Research, 2011

21727090 (PubMed )
Supplement: supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls › Sheet1

The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors.

Stehr H et al.

Molecular Cancer, 2011

21575214 (PubMed )
Supplement: 1476-4598-10-54-S3.XLS › mutations.txt

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

Yang G et al.

The Journal of Investigative Dermatology, 2005

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."