Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.P250S
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TP53

NM_000546.6:p.P250S

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

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

High prevalence of acquired cancer-related mutations in 146 human pluripotent stem cell lines and their differentiated derivatives.

Lezmi E et al.

Nature Biotechnology, 2024

An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.

Szafron LA et al.

International Journal of Molecular Sciences, 2024

39456660 (PubMed )
Supplement: ijms-25-10876-s001.zip › Supplement-variants.xlsx › 44.genes.SNP_all_variants

Skin Cancer Risk Is Increased by Somatic Mutations Detected Noninvasively in Healthy-Appearing Sun-Exposed Skin.

Kaur K et al.

The Journal of Investigative Dermatology, 2024

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Padigepati SR et al.

Human Genetics, 2024

39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › TP53

Comprehensive classification of TP53 somatic missense variants based on their impact on p53 structural stability.

Tam B et al.

Briefings in Bioinformatics, 2024

39140857 (PubMed )
Supplement: table_s1_bbae400.xlsx › Sheet1

NGS detection of gene rearrangements and METexon14 mutations in liquid biopsy of advanced NSCLC patients: A study of two Italian centers.

Verzè M et al.

The Journal of Liquid Biopsy, 2024

Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.

Liu XD et al.

Heliyon, 2024

38496837 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario.

de Freitas Ribeiro AA et al.

European Journal of Medical Research, 2024

38504328 (PubMed )
Supplement: 40001_2024_1767_MOESM1_ESM.xlsx › Other_genes

Comparison of TP53 mutations in myelodysplasia and acute leukemia suggests divergent roles in initiation and progression.

Jambhekar A et al.

Blood Neoplasia, 2024

40453522 (PubMed )
Supplement: BNEO_NEO-2023-000115-mmc1.xlsx › MDS

Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.

Pantaleo A et al.

Cancers, 2023

38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › ATM_

Genomic Profiling of Sarcomas: A Promising Weapon in the Therapeutic Arsenal.

Lopes-Brás R et al.

International Journal of Molecular Sciences, 2022

ACTH-secreting pituitary carcinoma with TP53, NF1, ATRX and PTEN mutations Case report and review of the literature.

Sumislawski P et al.

Endocrine, 2022

Microsatellite Instability Is Rare in the Admixed Brazilian Population of Non-Small Cell Lung Cancer: A Cohort of 526 Cases.

De Marchi P et al.

Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2022

Multiclonal complexity of pediatric acute lymphoblastic leukemia and the prognostic relevance of subclonal mutations

Antić Ž et al.

Haematologica, 2021

33147938 (PubMed )
Supplement: 2020_259226_ANTIC_SUPPL_TABLES.xlsx › Supplementary_Table_3

A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.

Hoyer K et al.

Ebiomedicine, 2021

33862582 (PubMed )
Supplement: mmc3.xlsx › S8

Highly multiplexed quantifications of 299 somatic mutations in colorectal cancer patients by automated MALDI-TOF mass spectrometry.

Xu C et al.

Bmc Medical Genomics, 2020

33008377 (PubMed )
Supplement: 12920_2020_804_MOESM1_ESM.xls › SuppTable1

Defining relative mutational difficulty to understand cancer formation.

Shan L et al.

Cell Discovery, 2020

Change in mutation frequency at a TP53 hotspot during culture of ENU-mutagenised human lymphoblastoid cells.

Watanabe M et al.

Mutagenesis, 2019

Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans.

Mitchell KA et al.

Nature Communications, 2019

31844068 (PubMed )
Supplement: 41467_2019_13732_MOESM12_ESM.xlsx › Sheet1

Detection of TP53 and PIK3CA Mutations in Circulating Tumor DNA Using Next-Generation Sequencing in the Screening Process for Early Breast Cancer Diagnosis.

Rodriguez BJ et al.

Journal of Clinical Medicine, 2019

Characterization of frequently mutated cancer genes in Chinese breast tumors: a comparison of Chinese and TCGA cohorts.

Zhang G et al.

Annals of Translational Medicine, 2019

Tracking tumour evolution in glioma through liquid biopsies of cerebrospinal fluid.

Miller AM et al.

Nature, 2019

30675060 (PubMed )
Supplement: NIHMS1516901-supplement-Sup_Table_5.xlsx › Matched_pair_analysis

Three dimensional primary cultures for selecting human breast cancers that are sensitive to the anti-tumor activity of ipatasertib or taselisib in combination with anti-microtubule cytotoxic drugs.

Orditura M et al.

Breast (edinburgh, Scotland), 2018

Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

Clark TA et al.

The Journal of Molecular Diagnostics : Jmd, 2018

29936259 (PubMed )
Supplement: mmc12.xlsx › Table_S12

A mutation spectrum that includes GNAS, KRAS and TP53 may be shared by mucinous neoplasms of the appendix.

Hara K et al.

Pathology, Research and Practice, 2015

IDH1 and IDH2 mutations, immunohistochemistry and associations in a series of brain tumors.

Mellai M et al.

Journal of Neuro-oncology, 2011

Predicting the functional impact of protein mutations: application to cancer genomics.

Reva B et al.

Nucleic Acids Research, 2011

21727090 (PubMed )
Supplement: supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls › Sheet1

A comprehensive study of TP53 mutations in chronic lymphocytic leukemia: Analysis of 1287 diagnostic and 1148 follow-up CLL samples.

Pekova S et al.

Leukemia Research, 2011

MUT-TP53 2.0: a novel versatile matrix for statistical analysis of TP53 mutations in human cancer.

Soussi T et al.

Human Mutation, 2010

Reassessment of the TP53 mutation database in human disease by data mining with a library of TP53 missense mutations.

Soussi T et al.

Human Mutation, 2005

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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."