Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.H98P
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CDKN2A

NM_000077.5:p.H98P

Associated Papers

Nanobodies restore stability to cancer-associated mutants of tumor suppressor protein p16INK4a.

Burbidge O et al.

Structure (london, England : 1993), 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-2.pdf

NF1 loss of function as an alternative initiating event in pancreatic ductal adenocarcinoma.

Ramakrishnan G et al.

Cell Reports, 2022

36351408 (PubMed )
Supplement: NIHMS1848910-supplement-2.xlsx › NF1-TP53-pi16INK4A-Smad4

Sequence and Structure-Based Analyses of Human Ankyrin Repeats.

Chakrabarty B et al.

Molecules (basel, Switzerland), 2022

35056738 (PubMed )
Supplement: molecules-27-00423-s001.zip › SupplementaryFileS4.xlsx › Sheet1

Molecular Characterization of Muellerian Tumors of the Urinary Tract.

Ortiz-Brüchle N et al.

Genes, 2021

34200508 (PubMed )
Supplement: genes-12-00880-s001.zip › genes-1228789-supplementary.xlsx › Mutations

CDKN2A-Inactivated Pancreatic Ductal Adenocarcinoma Exhibits Therapeutic Sensitivity to Paclitaxel: A Bioinformatics Study.

Lin JC et al.

Journal of Clinical Medicine, 2020

33322698 (PubMed )
Supplement: jcm-09-04019-s001.zip › jcm-1006906supple › Table-S1-TCGA-data.xlsx › _f__LUSC

Enrichment of short mutant cell-free DNA fragments enhanced detection of pancreatic cancer.

Liu X et al.

Ebiomedicine, 2019

30857943 (PubMed )
Supplement: mmc3.xlsx › mutations_detected_in_cfDNA

Cross-cancer profiling of molecular alterations within the human autophagy interaction network.

Lebovitz CB et al.

Autophagy, 2015

26208877 (PubMed )
Supplement: kaup-11-09-1067362-s001.zip › 1067362_supplemental_files › 2014AUTO0485R1-s03.xlsx › LUSC-mutations

Integrated RNA and DNA sequencing improves mutation detection in low purity tumors.

Wilkerson MD et al.

Nucleic Acids Research, 2014

Comprehensive genomic characterization of squamous cell lung cancers.

Unknown Author

Nature, 2012

22960745 (PubMed )
Supplement: NIHMS392594-supplement-2.zip › data.file.S7.1.p16.alterations.xlsx › Sheet1

Classifying variants of CDKN2A using computational and laboratory studies.

Miller PJ et al.

Human Mutation, 2011

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

Yang G et al.

The Journal of Investigative Dermatology, 2005

A minimum folding unit in the ankyrin repeat protein p16(INK4).

Zhang B et al.

Journal of Molecular Biology, 2000

Functional evaluation of tumour-specific variants of p16INK4a/CDKN2A: correlation with protein structure information.

Ruas M et al.

Oncogene, 1999

Stability and folding of the tumour suppressor protein p16.

Tang KS et al.

Journal of Molecular Biology, 1999

Point mutations can inactivate in vitro and in vivo activities of p16(INK4a)/CDKN2A in human glioma.

Arap W et al.

Oncogene, 1997

The CDKN2A (p16) gene and human cancer.

Foulkes WD et al.

Molecular Medicine (cambridge, Mass.), 1997

Defective folding of mutant p16(INK4) proteins encoded by tumor-derived alleles.

Zhang B et al.

The Journal of Biological Chemistry, 1996

Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma.

Parry D et al.

Molecular and Cellular Biology, 1996

Alternative reading frames of the INK4a tumor suppressor gene encode two unrelated proteins capable of inducing cell cycle arrest.

Quelle DE et al.

Cell, 1995

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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."