Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.D153Splc
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CDKN2A

NM_000077.5:p.D153Splc

Associated Papers

Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.

Haugh AM et al.

Cancers, 2024

38611025 (PubMed )
Supplement: cancers-16-01347-s001.zip › cancers-2874995-supplementary.xlsx › TableS1

Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.

Cotto KC et al.

Nature Communications, 2023

36949070 (PubMed )
Supplement: 41467_2023_37266_MOESM8_ESM.xlsx › supplemental_file_6

Next-generation sequencing clarified why first-line treatment with osimertinib was ineffective in an autopsied case of EGFR-mutated lung squamous cell carcinoma.

Nishimura T et al.

Thoracic Cancer, 2023

Next-generation sequencing in advanced Chinese melanoma reveals therapeutic targets and prognostic biomarkers for immunotherapy.

Huang F et al.

Scientific Reports, 2022

35688842 (PubMed )
Supplement: 41598_2022_13391_MOESM5_ESM.xlsx › NGS_data

Systematic assessment and optimizing algorithm of tumor mutational burden calculation and their implications in clinical decision-making.

Sun D et al.

Frontiers in Oncology, 2022

36425562 (PubMed )
Supplement: Table_3.xlsx › Sheet1

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

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_wild-type_SCC

Spitz melanoma is a distinct subset of spitzoid melanoma.

Raghavan SS et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

31900433 (PubMed )
Supplement: NIHMS1544959-supplement-3.xlsx › Sheet1

Baseline Genomic Features in BRAFV600-Mutated Metastatic Melanoma Patients Treated with BRAF Inhibitor + MEK Inhibitor in Routine Care.

Louveau B et al.

Cancers, 2019

31426590 (PubMed )
Supplement: cancers-11-01203-s001.pdf

Prognostic significance of tumor genotypes and CD8+ infiltrates in stage I-III colorectal cancer.

Fountzilas E et al.

Oncotarget, 2018

30479693 (PubMed )
Supplement: oncotarget-09-35623-s001.pdf

The Prevalence of Founder Mutations among Individuals from Families with Familial Pancreatic Cancer Syndrome.

Lener MR et al.

Cancer Research and Treatment, 2017

Breast cancer susceptibility genes.

Lubinski J et al.

Journal of B.u.on. : Official Journal of the Balkan Union of Oncology, 2007

CDKN2A and MC1R mutations in patients with sporadic multiple primary melanoma.

Peris K et al.

The Journal of Investigative Dermatology, 2004

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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."