Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.Q50_V51Splc
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CDKN2A

NM_000077.5:p.Q50_V51Splc

Associated Papers

TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.

Zhou Y et al.

Journal of Translational Medicine, 2023

38037073 (PubMed )
Supplement: 12967_2023_4742_MOESM1_ESM.xlsx › Sheet1

ATM deficiency confers specific therapeutic vulnerabilities in bladder cancer.

Zhou Y et al.

Science Advances, 2023

37992168 (PubMed )
Supplement: sciadv.adg2263_tables_s1_to_s5.zip › adg2263_Table_S1.xlsx › Genomic_data

Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Gounder MM et al.

Nature Communications, 2022

35705558 (PubMed )
Supplement: 41467_2022_30496_MOESM2_ESM.xls › variants_table_final_for_supple

Targeting G1/S phase cell-cycle genomic alterations and accompanying co-alterations with individualized CDK4/6 inhibitor-based regimens.

Kato S et al.

Jci Insight, 2021

Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Akolkar D et al.

Plos One, 2021

33556149 (PubMed )
Supplement: pone.0246048.s008.xlsx › Sheet1

EGFR-Mutated Squamous Cell Lung Cancer and Its Association With Outcomes.

Jin R et al.

Frontiers in Oncology, 2021

34195081 (PubMed )
Supplement: Table_2.xlsx › EGFR-Mutant_SCC

Genomic Landscape in Neoplasm-Like Stroma Reveals Distinct Prognostic Subtypes of Pancreatic Ductal Adenocarcinoma.

Jiang J et al.

Frontiers in Oncology, 2021

34733795 (PubMed )
Supplement: Table_1.xlsx › Sheet1

Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin.

Woodhouse R et al.

Plos One, 2020

32976510 (PubMed )
Supplement: pone.0237802.s009.zip › Table_9_Accuracy_Short_Variant_Line_Data.xlsx › sheet_1

Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites.

Nassar AH et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019

30593515 (PubMed )
Supplement: 10780432ccr183147-sup-209386_2_supp_5192871_ptz639.xlsx › S1.3_Raw_SNV_and_small_indels

BRAF mutant gastrointestinal stromal tumor: first report of regression with BRAF inhibitor dabrafenib (GSK2118436) and whole exomic sequencing for analysis of acquired resistance.

Falchook GS et al.

Oncotarget, 2013

Compensatory signals associated with the activation of human GC 5' splice sites.

Kralovicova J et al.

Nucleic Acids Research, 2011

Role of key-regulator genes in melanoma susceptibility and pathogenesis among patients from South Italy.

Casula M et al.

Bmc Cancer, 2009

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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."