Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.A5P
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CDKN2A

NM_000077.5:p.A5P

Associated Papers

Genomic Profile of Non-Small Cell Lung Cancer in a Spanish Cohort: A 2-Year Descriptive Study Using Next-Generation Sequencing.

Carnero-Gregorio M et al.

Genes, 2026

The Occurrence of Gene Fusions in Thyroid Lesions and the Relation With Chronic Lymphocytic Thyroiditis.

Jentus MM et al.

Pathology International, 2026

41492106 (PubMed )
Supplement: PIN-76-0-s003.docx

Molecular analysis of lung adenocarcinomas from the SAFIR02-Lung cohort reveals new metastasis-associated copy-number alterations including frequent mutant-specific KRAS-allelic imbalance and identifies CDKN2A homozygous deletions as an independent biomarker of poor prognosis.

Hamza A et al.

British Journal of Cancer, 2025

40931129 (PubMed )
Supplement: 41416_2025_3183_MOESM4_ESM.xlsx › S4B_Amino-acid_substitions

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-supp2.xlsx › Appendix_1-table_2

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

KRAS Mutation Subtypes and Their Association with Other Driver Mutations in Oncogenic Pathways.

Mondal K et al.

Cells, 2024

Baseline mutational profiles of patients with carcinoma of unknown primary origin enrolled in the CUPISCO study.

Westphalen CB et al.

Esmo Open, 2023

37922692 (PubMed )
Supplement: mmc1.docx

The spectrum of MAPK-ERK pathway genomic alterations in gynecologic malignancies: Opportunities for novel therapeutic approaches.

Nasioudis D et al.

Gynecologic Oncology, 2023

Comprehensive pan-cancer genomic landscape of KRAS altered cancers and real-world outcomes in solid tumors.

Lee JK et al.

Npj Precision Oncology, 2022

36494601 (PubMed )
Supplement: 41698_2022_334_MOESM1_ESM.pdf

Molecular Biology and Therapeutic Perspectives for K-Ras Mutant Non-Small Cell Lung Cancers.

Cekani E et al.

Cancers, 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

Clinical utility of circulating tumor DNA sequencing in advanced gastrointestinal cancer: SCRUM-Japan GI-SCREEN and GOZILA studies.

Nakamura Y et al.

Nature Medicine, 2020

KRAS G12C mutations in Asia: a landscape analysis of 11,951 Chinese tumor samples.

Loong HH et al.

Translational Lung Cancer Research, 2020

Comprehensive genomic profile of cholangiocarcinomas in China.

Tian W et al.

Oncology Letters, 2020

Primary malignant melanoma of esophagus: clinicopathologic characterization of 20 cases including molecular genetic profiling of 15 tumors.

Lasota J et al.

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

Genetic Alterations of Periampullary and Pancreatic Ductal Adenocarcinoma: An Overview.

Sikdar N et al.

Current Genomics, 2018

Ordering of mutations in acute myeloid leukemia with partial tandem duplication of MLL (MLL-PTD).

Sun QY et al.

Leukemia, 2017

27389053 (PubMed )
Supplement: leu2016160x1.doc

Clinical and Molecular Characteristics of NF1-Mutant Lung Cancer.

Redig AJ et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016

KRAS-Mutant Lung Cancers in the Era of Targeted Therapy.

Naidoo J et al.

Advances in Experimental Medicine and Biology, 2016

Familial and sporadic pancreatic cancer share the same molecular pathogenesis.

Norris AL et al.

Familial Cancer, 2015

Transcriptome meta-analysis of lung cancer reveals recurrent aberrations in NRG1 and Hippo pathway genes.

Dhanasekaran SM et al.

Nature Communications, 2014

25531467 (PubMed )
Supplement: NIHMS643650-supplement-1.pdf

KRAS-G12C mutation is associated with poor outcome in surgically resected lung adenocarcinoma.

Nadal E et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2014

Alterations of INPP4B, PIK3CA and pAkt of the PI3K pathway are associated with squamous cell carcinoma of the lung.

Stjernström A et al.

Cancer Medicine, 2014

Designing a high-throughput somatic mutation profiling panel specifically for gynaecological cancers.

Spaans VM et al.

Plos One, 2014

Specific mutations in KRAS codons 12 and 13, and patient prognosis in 1075 BRAF wild-type colorectal cancers.

Imamura Y et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2012

The D84E variant of the alpha-MSH receptor 1 gene is associated with cutaneous malignant melanoma early onset.

F-de-Misa R et al.

Journal of Dermatological Science, 2008

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

Aoki Y et al.

Human Mutation, 2008

Genomic landscape and actionable mutations of brain metastases derived from non-small cell lung cancer: A systematic review.

Andrews LJ et al.

Neuro-oncology Advances, 0

38130901 (PubMed )
Supplement: vdad145_suppl_supplementary_data.xlsx › Individual_data
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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."