Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.P114L
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CDKN2A

NM_000077.5:p.P114L

Associated Papers

Integrating evidence from protein domains to identify cancer driver mutations.

Ostroverkhova D et al.

Protein Science : a Publication of the Protein Society, 2026

41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1

Systematic evaluation of neoepitope predictions challenges clinically observed T-cell responses and their impact on immune evasion.

Zaghla BKQ et al.

Journal for Immunotherapy of Cancer, 2026

Genetic evolution of keratinocytes to cutaneous squamous cell carcinoma.

Tandukar B et al.

Nature Communications, 2025

41309580 (PubMed )
Supplement: 41467_2025_65687_MOESM9_ESM.xlsx › TableS5

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

Burbidge O et al.

Structure (london, England : 1993), 2025

Genetic mechanisms of resistance to targeted KRAS inhibition.

Diaz BJ et al.

Biorxiv : the Preprint Server for Biology, 2025

40799582 (PubMed )
Supplement: media-3.xlsx › Table_S1B

Computational modeling of human genetic variants in mice.

Dong K et al.

Biorxiv : the Preprint Server for Biology, 2025

40060429 (PubMed )
Supplement: media-1.zip › Supp_Data_7_MHC_I_binding_prediction.xlsx › Sheet1_human_validated

Clinical and analytical validation of a combined RNA and DNA exome assay across a large tumor cohort.

Yudina A et al.

Communications Medicine, 2025

40523952 (PubMed )
Supplement: 43856_2025_934_MOESM3_ESM.xlsx › Table_S22

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

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

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

The mutational landscape and actionable targets of gallbladder cancer: an ancestry-informed and comparative analysis of a Chilean population.

Erices JI et al.

Frontiers in Oncology, 2025

Genetic evolution of keratinocytes to cutaneous squamous cell carcinoma.

Tandukar B et al.

Biorxiv : the Preprint Server for Biology, 2024

39091884 (PubMed )
Supplement: media-5.xlsx › TableS5

Genomic progression for local invasion of cutaneous squamous cell carcinoma from the superficial to the deep portion.

Hwang HW et al.

International Journal of Cancer, 2024

Amyloid formation and depolymerization of tumor suppressor p16INK4a are regulated by a thiol-dependent redox mechanism.

Heath SG et al.

Nature Communications, 2024

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

Extensive mutational ctDNA profiles reflect High-grade serous cancer tumors and reveal emerging mutations at recurrence.

Marchi G et al.

Translational Oncology, 2024

Genomic landscape and tumor mutational features of resected preinvasive to invasive lung adenocarcinoma.

Lin Y et al.

Frontiers in Oncology, 2024

38803537 (PubMed )
Supplement: Table_1.xlsx › Table_S4

The Spectrum of HPV-independent Penile Intraepithelial Neoplasia: A Proposal for Subclassification.

Regauer S et al.

The American Journal of Surgical Pathology, 2023

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

Germline cancer-related mutations detected by routine targeted NGS for tumour analysis: A series of 357 melanoma patients.

Garcia-Casado Z et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023

High- and intermediate-risk susceptibility variants in melanoma families from the Mediterranean area: A multicentre cohort from the MelaNostrum Consortium.

Pellegrini C et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2a.Studied_gene

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma.

Mitchell OD et al.

Jama Network Open, 2023

37556141 (PubMed )
Supplement: jamanetwopen-e2327351-s001.pdf

Molecular Features of Resected Melanoma Brain Metastases, Clinical Outcomes, and Responses to Immunotherapy.

Vasudevan HN et al.

Jama Network Open, 2023

37589977 (PubMed )
Supplement: jamanetwopen-e2329186-s001.xlsx › TableS1

Autoimmune alleles at the major histocompatibility locus modify melanoma susceptibility.

Talwar JV et al.

American Journal of Human Genetics, 2023

37339630 (PubMed )
Supplement: mmc3.pdf

Dynamic ctDNA Mutational Complexity in Patients with Melanoma Receiving Immunotherapy.

Fitzgerald S et al.

Molecular Diagnosis & Therapy, 2023

37099071 (PubMed )
Supplement: 40291_2023_651_MOESM1_ESM.xlsx › Suppl._Table_2

Detecting recurrent passenger mutations in melanoma by targeted UV damage sequencing.

Selvam K et al.

Nature Communications, 2023

37169747 (PubMed )
Supplement: 41467_2023_38265_MOESM4_ESM.xlsx › Fig._3ab

Targeted deep sequencing reveals genomic alterations of actinic keratosis/cutaneous squamous cell carcinoma in situ and cutaneous squamous cell carcinoma.

Kim YS et al.

Experimental Dermatology, 2023

Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.

Magallón-Lorenz M et al.

Iscience, 2023

36818284 (PubMed )
Supplement: mmc2.xlsx › STS-26T

Identification of T Cell Receptors Targeting a Neoantigen Derived from Recurrently Mutated FGFR3.

Tate T et al.

Cancers, 2023

36831375 (PubMed )
Supplement: cancers-15-01031-s001.zip › Supplementary_Table_S1.xlsx › Table_S1

Clear cell variant of atypical fibroxanthoma and pleomorphic dermal sarcoma: Molecular characterization and review of the literature.

Coelho-Lima J et al.

Journal of Cutaneous Pathology, 2022

Primary cutaneous SMARCA4-deficient undifferentiated malignant neoplasm: first two cases with clinicopathologic and molecular comparison to eight visceral counterparts.

Russell-Goldman E et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

Targeted Next-Generation Sequencing-Based Multiple Gene Mutation Profiling of Patients with Rectal Adenocarcinoma Receiving or Not Receiving Neoadjuvant Chemoradiotherapy.

Chang YK et al.

International Journal of Molecular Sciences, 2022

36142267 (PubMed )
Supplement: ijms-23-10353-s001.zip › ijms-1910530-supplementary.pdf

Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Sánchez-Rivera FJ et al.

Nature Biotechnology, 2022

35165384 (PubMed )
Supplement: NIHMS1760571-supplement-Supplementary_Table_S2.xlsx › Table_S2D

Mind your head: two cases of mucosal metastasis of BRAF-mutated melanoma of the scalp.

Koppes SA et al.

Virchows Archiv : an International Journal of Pathology, 2022

Clinical Impact of Prospective Whole Genome Sequencing in Sarcoma Patients.

Schipper LJ et al.

Cancers, 2022

35053600 (PubMed )
Supplement: cancers-14-00436-s001.zip › Supplementary_data_-_Detailed_genomic_information_per_sample.xlsx › SNVs__MNVs__indels

Sequence and Structure-Based Analyses of Human Ankyrin Repeats.

Chakrabarty B et al.

Molecules (basel, Switzerland), 2022

The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.

Karachaliou GS et al.

Bmc Cancer, 2022

34986841 (PubMed )
Supplement: 12885_2021_8908_MOESM2_ESM.xlsx › APC_CTNNB1_wild_type
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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."