Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.P81T
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CDKN2A

NM_000077.5:p.P81T

Associated Papers

Structural analysis of the impact of germline mutations of p16 in melanoma prone families.

Arun D et al.

Molecular Diversity, 2025

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-fig2-data1.xlsx › Raw_data_in_Figure_2B

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

Sequence and Structure-Based Analyses of Human Ankyrin Repeats.

Chakrabarty B et al.

Molecules (basel, Switzerland), 2022

The LOVD3 platform: efficient genome-wide sharing of genetic variants.

Fokkema IFAC et al.

European Journal of Human Genetics : Ejhg, 2021

34521998 (PubMed )
Supplement: 41431_2021_959_MOESM4_ESM.pdf

Integrated Analysis of Genomic and Immunological Features in Lung Adenocarcinoma With Micropapillary Component.

Zhang S et al.

Frontiers in Oncology, 2021

34221970 (PubMed )
Supplement: Table_5.xlsx › Supplementary_Table_S5

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

Incidence and distribution of UroSEEK gene panel in a multi-institutional cohort of bladder urothelial carcinoma.

Eich ML et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019

31028363 (PubMed )
Supplement: NIHMS1525315-supplement-2.xlsx › Sheet1

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

Aftab A et al.

Breast Cancer (tokyo, Japan), 2019

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

Germline mutations in CDKN2A are infrequent in female patients with melanoma and breast cancer.

Nagore E et al.

Melanoma Research, 2009

Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.

Kannengiesser C et al.

Human Mutation, 2009

BRCA1, BRCA2, TP53, and CDKN2A germline mutations in patients with breast cancer and cutaneous melanoma.

Monnerat C et al.

Familial Cancer, 2007

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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."