Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.M246K
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TP53

NM_000546.6:p.M246K

Associated Papers

TP53 mutation heterogeneity reveals distinct prognoses in mantle cell lymphoma.

Liu S et al.

Annals of Hematology, 2026

41559357 (PubMed )
Supplement: 277_2026_6771_MOESM2_ESM.xlsx › TableS3

Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.

Brown JR et al.

Blood, 2026

41055698 (PubMed )
Supplement: BLOOD_BLD-2024-027009-mmc5.xlsx › Sheet_1

SOMATIC GENE VARIANTS IN UNRESECTABLE CUTANEOUS MELANOMA CELLS AND DETECTION OF PHARMACOGENOMIC MARKERS: INFLUENCE ON STRATEGY OF EFFECTIVE CANCER TREATMENT.

Gulkovskyi R et al.

Experimental Oncology, 2025

Liquid Biopsy and Automated Next-Generation Sequencing: Achieving Results in 27 Hours Within a Community Setting.

Yajima T et al.

Diagnostics (basel, Switzerland), 2025

Evaluation of Long-Read Genome Sequencing for Genomic Profiling of Myeloid Cancers.

Abel HJ et al.

The Journal of Molecular Diagnostics : Jmd, 2025

41016628 (PubMed )
Supplement: mmc16.xlsx › Sheet1

Clinical utility of liquid biopsy next-generation sequencing for advanced non-small cell lung cancer in the Netherlands.

de Bitter TJJ et al.

Scientific Reports, 2025

40830613 (PubMed )
Supplement: 41598_2025_13667_MOESM2_ESM.xlsx › Supplementary_Table_2

TP53-Mutated Acute Myeloid Leukemia and Blast Phase Myeloproliferative Neoplasm: Distinct Mutation Leads to Poorer Prognosis.

Chen D et al.

European Journal of Haematology, 2025

Clinicopathological and molecular characterization of KRAS wild-type pancreatic ductal adenocarcinomas reveals precursor lesions with oncogenic mutations and fusions in RAS pathway genes.

Toriyama K et al.

The Journal of Pathology, 2025

40317966 (PubMed )
Supplement: PATH-266-337-s001.docx

tp53 R217H and R242H mutant zebrafish exhibit dysfunctional p53 hallmarks and recapitulate Li-Fraumeni syndrome phenotypes.

Kobar K et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 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

The impact of mutations on TP53 protein and MicroRNA expression in HNSCC: Novel insights for diagnostic and therapeutic strategies.

Mahmoud AA et al.

Plos One, 2025

40333905 (PubMed )
Supplement: pone.0307859.s001.xlsx › Sheet10

Hallmarks of a genomically distinct subclass of head and neck cancer.

Muijlwijk T et al.

Nature Communications, 2024

39428388 (PubMed )
Supplement: 41467_2024_53390_MOESM4_ESM.xlsx › 3._List_of_all_somatic_variants

Exploring p53 protein expression and its link to TP53 mutation in myelodysplasia-related malignancies-Interpretive challenges and potential field of applications.

Bedekovics J et al.

Histopathology, 2024

Biomarker analysis of the ASPEN study comparing zanubrutinib with ibrutinib for patients with Waldenström macroglobulinemia.

Tam CS et al.

Blood Advances, 2024

38315878 (PubMed )
Supplement: BLOODA_ADV-2023-010906-mmc1.pdf

Molecular profiling and feasibility using a comprehensive hybrid capture panel on a consecutive series of non-small-cell lung cancer patients from a single centre.

Mosteiro M et al.

Esmo Open, 2023

38070435 (PubMed )
Supplement: mmc4.xlsx › Small_variants

TP53 germline pathogenic variants in modern humans were likely originated during recent human history.

Kou SH et al.

Nar Cancer, 2023

37304756 (PubMed )
Supplement: zcad025_supplemental_files.zip › Supplementary_Table_2.xlsx › PVs

The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia.

Hakkarainen M et al.

Blood, 2023

The High Expression of p53 Is Predictive of Poor Survival Rather TP53 Mutation in Esophageal Squamous Cell Carcinoma.

Jin Y et al.

Journal of Oncology, 2023

Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Keskin Karakoyun H et al.

Frontiers in Genetics, 2023

36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant

Concomitant TP53 mutation in early-stage resected EGFR-mutated non-small cell lung cancer: a narrative approach in a genetically admixed Brazilian cohort.

Machado-Rugolo J et al.

Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2023

Tissue and liquid biopsy profiling reveal convergent tumor evolution and therapy evasion in breast cancer.

Sivakumar S et al.

Nature Communications, 2022

36470901 (PubMed )
Supplement: 41467_2022_35245_MOESM4_ESM.xlsx › Supplementary_Data_17

Deep Molecular and In Silico Protein Analysis of p53 Alteration in Myelodysplastic Neoplasia and Acute Myeloid Leukemia.

Madarász K et al.

Cells, 2022

Landscape of somatic alterations in large-scale solid tumors from an Asian population.

Wu L et al.

Nature Communications, 2022

35871175 (PubMed )
Supplement: 41467_2022_31780_MOESM6_ESM.xlsx › Supplementary_Data_4

Upfront Next Generation Sequencing in Non-Small Cell Lung Cancer.

Kuang S et al.

Current Oncology (toronto, Ont.), 2022

35877212 (PubMed )
Supplement: curroncol-29-00352-s001.zip › LUNGS1_16_june_2022_supplemental_2_variants_no_code.pdf

Differences in the Molecular Profile between Primary Breast Carcinomas and Their Cutaneous Metastases.

González-Martínez S et al.

Cancers, 2022

35267459 (PubMed )
Supplement: cancers-14-01151-s001.zip › cancers-1605205-supplementary.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

Preexisting TP53-Variant Clonal Hematopoiesis and Risk of Secondary Myeloid Neoplasms in Patients With High-grade Ovarian Cancer Treated With Rucaparib.

Kwan TT et al.

Jama Oncology, 2021

Genomic Abnormalities as Biomarkers and Therapeutic Targets in Acute Myeloid Leukemia.

Ribeiro S et al.

Cancers, 2021

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_15.xlsx › Sheet1

Genomic and Clinical Significance of Multiple Primary Lung Cancers as Determined by Next-Generation Sequencing.

Goodwin D et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2021

Zebrafish Cancer Predisposition Models.

Kobar K et al.

Frontiers in Cell and Developmental Biology, 2021

Genomic and transcriptomic landscape of conjunctival melanoma.

Cisarova K et al.

Plos Genetics, 2020

33383577 (PubMed )
Supplement: pgen.1009201.s006.xlsx › Sheet1

Mutation analysis and genomic imbalances of cells found in effusion fluids from patients with ovarian cancer.

Brunetti M et al.

Oncology Letters, 2020

Tumor suppressor MCPH1 regulates gene expression profiles related to malignant conversion and chromosomal assembly.

Tervasmäki A et al.

International Journal of Cancer, 2019

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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."