Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.M1I
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TP53

NM_000546.6:p.M1I

Associated Papers

Genomic landscape of hormone therapy-resistant HR-positive, HER2-negative breast cancer.

Chaubal R et al.

Breast Cancer Research and Treatment, 2025

40652157 (PubMed )
Supplement: 10549_2025_7759_MOESM1_ESM.xlsx › stable6

Quantitative functional profiling of ERCC2 mutations deciphers cisplatin sensitivity in bladder cancer.

Börcsök J et al.

The Journal of Clinical Investigation, 2025

40829180 (PubMed )
Supplement: jci-135-186688-s236.xlsx › SFigure5E-G

ATM aberrations in chronic lymphocytic leukemia: del(11q) rather than ATM mutations is an adverse-prognostic biomarker.

Thorvaldsdottir B et al.

Leukemia, 2025

40275070 (PubMed )
Supplement: 41375_2025_2615_MOESM2_ESM.xlsx › Supplemental_Table_S2

Precision proteogenomics reveals pan-cancer impact of germline variants.

Martins Rodrigues F et al.

Cell, 2025

Characterization of the genomic landscape of canine diffuse large B-cell lymphoma reveals recurrent H3K27M mutations linked to progression-free survival.

van der Heiden AD et al.

Scientific Reports, 2025

39922874 (PubMed )
Supplement: 41598_2025_89245_MOESM1_ESM.xlsx › Sup_Table_S6

Genomic Features of Newly Diagnosed Large B-cell Lymphoma with or without Subsequent Disease Progression.

Landsburg DJ et al.

Cancer Research Communications, 2024

39392347 (PubMed )
Supplement: crc-24-0337_supplementary_data_suppsd.xlsx › Supplemental_Table_1

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R10492.xls › SNVIndel

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_

Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer.

Serebriiskii IG et al.

Npj Genomic Medicine, 2023

38001126 (PubMed )
Supplement: 41525_2023_384_MOESM1_ESM.xlsx › Table_S6

Clinical and molecular correlates of somatic and germline DDX41 variants in patients and families with myeloid neoplasms.

Badar T et al.

Haematologica, 2023

Challenging interpretation of germline TP53 variants based on the experience of a national comprehensive cancer centre.

Butz H et al.

Scientific Reports, 2023

37653074 (PubMed )
Supplement: 41598_2023_41481_MOESM3_ESM.xlsx › gnomAD_v2.1.1__non-cancer_

DDX41 mutations in patients with non-myeloid hematologic neoplasms.

Jelloul FZ et al.

American Journal of Hematology, 2023

Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.

Nannya Y et al.

Blood Advances, 2023

36989067 (PubMed )
Supplement: BLOODA_ADV-2022-009564-mmc2.xlsx › SuppTable9

Current Understanding of DDX41 Mutations in Myeloid Neoplasms.

Kim K et al.

Cancers, 2023

Prioritization of patients for germline testing based on tumor profiling of hematopoietic malignancies.

Godley LA

Frontiers in Oncology, 2023

TP53, a gene for colorectal cancer predisposition in the absence of Li-Fraumeni-associated phenotypes.

Terradas M et al.

Gut, 2021

Clinicopathological and molecular characteristics of patients with hypermutant lung cancer: A retrospective cohort study.

Zhang H et al.

Oncology Letters, 2021

33692861 (PubMed )
Supplement: Supplementary_Data.pdf

Functional Genomics of PRUNE1 in Neurodevelopmental Disorders (NDDs) Tied to Medulloblastoma (MB) and Other Tumors.

Bibbò F et al.

Frontiers in Oncology, 2021

Efficient Generation and Correction of Mutations in Human iPS Cells Utilizing mRNAs of CRISPR Base Editors and Prime Editors.

Sürün D et al.

Genes, 2020

First Glance of Molecular Profile of Atypical Cellular Angiofibroma/Cellular Angiofibroma with Sarcomatous Transformation by Next Generation Sequencing.

Chien YC et al.

Diagnostics (basel, Switzerland), 2020

Targeted Molecular and Immunohistochemical Analyses of Endometrial Clear Cell Carcinoma Show that POLE Mutations and DNA Mismatch Repair Protein Deficiencies Are Uncommon.

Baniak N et al.

The American Journal of Surgical Pathology, 2019

Mutational processes shape the landscape of TP53 mutations in human cancer.

Giacomelli AO et al.

Nature Genetics, 2018

30224644 (PubMed )
Supplement: NIHMS1501645-supplement-4.xlsx › Giacomelli_et_al_New_Supplement

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

DeRycke MS et al.

Molecular Genetics & Genomic Medicine, 2017

28944238 (PubMed )
Supplement: MGG3-5-553-s002.xlsx › ST1

Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Ashktorab H et al.

Oncotarget, 2017

28002797 (PubMed )
Supplement: oncotarget-08-7852-s002.xlsx › TP53.Ion

Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Bennett TM et al.

Plos One, 2017

29267365 (PubMed )
Supplement: pone.0189881.s007.xlsx › S7a._Clear__1__all

The Czech National Diamond-Blackfan Anemia Registry: clinical data and ribosomal protein mutations update.

Pospisilova D et al.

Blood Cells, Molecules & Diseases, 2012

Aberrant regulation of the MRP3 gene in non-small cell lung carcinoma.

Mahaffey CM et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2012

Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.

Santos R et al.

Antioxidants & Redox Signaling, 2010

Coamplification at lower denaturation temperature-PCR increases mutation-detection selectivity of TaqMan-based real-time PCR.

Li J et al.

Clinical Chemistry, 2009

Characterization of FAMPAC, a newly identified human pancreatic carcinoma cell line with a hereditary background.

Eisold S et al.

Cancer, 2004

Genetic analysis of a multifocal glioblastoma multiforme: a suitable tool to gain new aspects in glioma development.

Krex D et al.

Neurosurgery, 2003

Relationship between E-cadherin gene mutation and p53 gene mutation, p53 accumulation, Bcl-2 expression and Ki-67 staining in diffuse-type gastric carcinoma.

Fricke E et al.

International Journal of Cancer, 2003

Comprehensive scanning of the ATM gene with DOVAM-S.

Buzin CH et al.

Human Mutation, 2003

Mutations in the STK11 gene characterize minimal deviation adenocarcinoma of the uterine cervix.

Kuragaki C et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2003

Analysis of mutation spectra in UVB-exposed mouse skin epidermis and dermis: frequent occurrence of C-->T transition at methylated CpG-associated dipyrimidine sites.

Ikehata H et al.

Environmental and Molecular Mutagenesis, 2003

Discordance of genetic alterations between primary head and neck tumors and corresponding metastases associated with mutational status of the TP53 gene.

Tabor MP et al.

Genes, Chromosomes & Cancer, 2002

A novel nucleolar G-protein conserved in eukaryotes.

Park JH et al.

Journal of Cell Science, 2001

Circulating p53 antibodies, p53 gene mutational profile and product accumulation in esophageal squamous-cell carcinoma in India.

Ralhan R et al.

International Journal of Cancer, 2000

Patterns of genetic alterations in pancreatic cancer: a pooled analysis.

Blanck HM et al.

Environmental and Molecular Mutagenesis, 1999

Discrimination of DNA binding sites by mutant p53 proteins.

Thukral SK et al.

Molecular and Cellular Biology, 1995

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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."