Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.H214L
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TP53

NM_000546.6:p.H214L

Associated Papers

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

41062696 (PubMed )
Supplement: 41586_2025_9584_MOESM6_ESM.xlsx › clinvar_annotation

TP53 variant clusters stratify phenotypic diversity in germline carriers and reveal an osteosarcoma-prone subgroup.

Fischer NW et al.

Nature Communications, 2025

41022739 (PubMed )
Supplement: 41467_2025_63528_MOESM7_ESM.xlsx › Sheet1

MDM2 inhibition is associated with the emergence of TP53-altered clonal hematopoiesis.

Khanna V et al.

Npj Precision Oncology, 2025

39900989 (PubMed )
Supplement: 41698_2025_823_MOESM1_ESM.pdf

Clinical utility and predictive value of cerebrospinal fluid cell-free DNA profiling in non-small cell lung cancer patients with leptomeningeal metastasis.

Liang SK et al.

Neoplasia (new York, N.y.), 2025

Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.

Funk JS et al.

Nature Genetics, 2025

39774325 (PubMed )
Supplement: 41588_2024_2039_MOESM5_ESM.xlsx › SuppFig6

Study of sex-biased differences in genomic profiles in East Asian hepatocellular carcinoma.

Huang CY et al.

Discover Oncology, 2024

38981878 (PubMed )
Supplement: 12672_2024_1131_MOESM2_ESM.xlsx › Mutation

Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.

Gusakova M et al.

Frontiers in Oncology, 2024

39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_6.XLSX › 628_all_list_group_2

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TP53

Investigating the genomic alteration improved the clinical outcome of aged patients with lung carcinoma.

Chen S et al.

Bmc Genomics, 2022

35031014 (PubMed )
Supplement: 12864_2021_8289_MOESM1_ESM.xlsx › Table_S1

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14

Utilisation of semiconductor sequencing for the detection of predictive biomarkers in glioblastoma.

Williams G et al.

Plos One, 2022

Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

G V et al.

Frontiers in Genetics, 2022

36561320 (PubMed )
Supplement: Table2.xlsx › TP53

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_3.xlsx › Sheet1

Molecular characterization of diffuse malignant peritoneal mesothelioma.

Hung YP et al.

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

From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.

Quinn EA et al.

Cold Spring Harbor Molecular Case Studies, 2019

30886117 (PubMed )
Supplement: supp_mcs.a003921_Supplemental_Table_1a.xlsx › S_Table1a._TP53_in_ClinVar

Proposal for a Combined Histomolecular Algorithm to Distinguish Multiple Primary Adenocarcinomas from Intrapulmonary Metastasis in Patients with Multiple Lung Tumors.

Mansuet-Lupo A et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2019

Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Brown AL et al.

Plos Computational Biology, 2019

31034466 (PubMed )
Supplement: pcbi.1006981.s010.xlsx › final_benchmark

Somatic inactivating PTPRJ mutations and dysregulated pathways identified in canine malignant melanoma by integrated comparative genomic analysis.

Hendricks WPD et al.

Plos Genetics, 2018

30188888 (PubMed )
Supplement: pgen.1007589.s022.xls › TableS12.tsv

Analytic validation and real-time clinical application of an amplicon-based targeted gene panel for advanced cancer.

Wing MR et al.

Oncotarget, 2017

29100271 (PubMed )
Supplement: oncotarget-08-75822-s008.xlsx › S7._167_patients

Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Chen F et al.

Nature Communications, 2017

28775315 (PubMed )
Supplement: 41467_2017_289_MOESM7_ESM.xlsx › mutation_data

Identification of clinically relevant alterations in phyllodes tumor of the breast by amplicon-based next-generation sequencing.

Tsang JY et al.

Breast Cancer Research and Treatment, 2015

Genome-wide mutational signatures of aristolochic acid and its application as a screening tool.

Poon SL et al.

Science Translational Medicine, 2013

23926199 (PubMed )
Supplement: 5-197ra101_sm.pdf

Targeting the p53 Pathway in Ewing Sarcoma.

Neilsen PM et al.

Sarcoma, 2011

Isolation of temperature-sensitive p53 mutations from a comprehensive missense mutation library.

Shiraishi K et al.

The Journal of Biological Chemistry, 2004

The dominant TP53 hotspot mutation in IDH -mutant astrocytoma, R273C, has distinctive pathologic features and sex-specific prognostic implications.

Marker DF et al.

Neuro-oncology Advances, 0

35047821 (PubMed )
Supplement: vdab182_suppl_supplementary_table_s1.xlsx › Master
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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."