Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.A36P
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CDKN2A

NM_000077.5:p.A36P

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

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

Genetic Alterations in the INK4a/ARF Locus: Effects on Melanoma Development and Progression.

Ming Z et al.

Biomolecules, 2020

Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions.

Jenkins NC et al.

The Journal of Investigative Dermatology, 2013

Classifying variants of CDKN2A using computational and laboratory studies.

Miller PJ et al.

Human Mutation, 2011

Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A.

McKenzie HA et al.

Human Mutation, 2010

Assessment of functional effects of unclassified genetic variants.

Couch FJ et al.

Human Mutation, 2008

p16INK4a-induced senescence is disabled by melanoma-associated mutations.

Haferkamp S et al.

Aging Cell, 2008

Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.

Goldstein AM et al.

Journal of Medical Genetics, 2007

High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL.

Goldstein AM et al.

Cancer Research, 2006

Familial melanoma, pancreatic cancer and germline CDKN2A mutations.

Goldstein AM

Human Mutation, 2004

Geographical variation in the penetrance of CDKN2A mutations for melanoma.

Bishop DT et al.

Journal of the National Cancer Institute, 2002

Functional impairment of melanoma-associated p16(INK4a) mutants in melanoma cells despite retention of cyclin-dependent kinase 4 binding.

Becker TM et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2001

Mutation screening of the CDKN2A promoter in melanoma families.

Harland M et al.

Genes, Chromosomes & Cancer, 2000

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