Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.H142R
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CDKN2A

NM_000077.5:p.H142R

Associated Papers

Clinical characteristics and prognostic analysis of CDKN2A/2B gene in pediatric acute lymphoblastic leukemia: a retrospective case-control study.

Huang SM et al.

Hematology (amsterdam, Netherlands), 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-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-11.pdf

An Optimized NGS Workflow Defines Genetically Based Prognostic Categories for Patients with Uveal Melanoma.

Massimino M et al.

Biomolecules, 2025

39858540 (PubMed )
Supplement: biomolecules-15-00146-s001.zip › Table_S6.xlsx › SNV_INDELs_UM

The functional role of inherited CDKN2A variants in childhood acute lymphoblastic leukemia.

Li C et al.

Pharmacogenetics and Genomics, 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

A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes.

De Simone P et al.

International Journal of Molecular Sciences, 2020

Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Yehia L et al.

Plos Genetics, 2018

29684080 (PubMed )
Supplement: pgen.1007352.s009.xlsx › S8_Table

p16INK4A enhances the transcriptional and the apoptotic functions of p53 through DNA-dependent interaction.

Al-Khalaf HH et al.

Molecular Carcinogenesis, 2017

Classifying variants of CDKN2A using computational and laboratory studies.

Miller PJ et al.

Human Mutation, 2011

Regulatory mechanisms of tumor suppressor P16(INK4A) and their relevance to cancer.

Li J et al.

Biochemistry, 2011

GRIM-19 and p16(INK4a) synergistically regulate cell cycle progression and E2F1-responsive gene expression.

Sun P et al.

The Journal of Biological Chemistry, 2010

CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma.

Pastorino L et al.

Pigment Cell & Melanoma Research, 2008

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."