Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.M53T
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CDKN2A

NM_000077.5:p.M53T

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-supp11.xlsx › Appendix_1-table_11

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

Genetic Profiling of Advanced Melanoma: Candidate Mutations for Predicting Sensitivity and Resistance to Targeted Therapy.

Olbryt M et al.

Targeted Oncology, 2020

In vitro behavior and UV response of melanocytes derived from carriers of CDKN2A mutations and MC1R variants.

Hernando B et al.

Pigment Cell & Melanoma Research, 2019

Classifying variants of CDKN2A using computational and laboratory studies.

Miller PJ et al.

Human Mutation, 2011

Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study.

Demenais F et al.

Journal of the National Cancer Institute, 2010

20876876 (PubMed )
Supplement: supp_djq363_JNCI-09-1449R-Suppl_tables.pdf

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

Yang G et al.

The Journal of Investigative Dermatology, 2005

Biallelic mutations in p16(INK4a) confer resistance to Ras- and Ets-induced senescence in human diploid fibroblasts.

Huot TJ et al.

Molecular and Cellular Biology, 2002

CDKN2A mutation in a non-FAMMM kindred with cancers at multiple sites results in a functionally abnormal protein.

Sun S et al.

International Journal of Cancer, 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."