Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.R267Q
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TP53

NM_000546.6:p.R267Q

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

Subclinical Telomere Biology Disorder in Cancer Patients Heterozygous for the RTEL1 R1264H Founder Variant.

Banaszak LG et al.

American Journal of Medical Genetics. Part A, 2025

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_MOESM4_ESM.xlsx › S_Table_1__maxwell_dataset_

Variation at the R181 residue of p53 confers loss of p53 DNA binding cooperativity with the retention of mitochondrial-associated apoptosis.

Moses R et al.

Biorxiv : the Preprint Server for Biology, 2025

Clinical Significance of TP53-Mutant Clonal Hematopoiesis Across Diseases.

Usui Y et al.

Blood Cancer Discovery, 2025

40525786 (PubMed )
Supplement: bcd-24-0355_table_s2_suppst2.xlsx › Sheet1

Prognostic significance of circulating tumor DNA alterations in advanced renal cell carcinoma from SCRUM-Japan MONSTAR-SCREEN: a nationwide genomic profiling project.

Kato T et al.

British Journal of Cancer, 2025

40325148 (PubMed )
Supplement: 41416_2025_2985_MOESM2_ESM.xlsx › Supplementary_Table_S2

Hematologic Malignancy Frequency, Phenotypes, and Outcomes in Li-Fraumeni Syndrome.

Vagher J et al.

Jco Precision Oncology, 2025

40540701 (PubMed )
Supplement: DS2_PO-24-00860.xlsx › Supp_Table_2

Assessing germline TP53 mutations in cancer patients: insights into Li-Fraumeni syndrome and genetic testing guidelines.

Danishevich A et al.

Hereditary Cancer in Clinical Practice, 2025

Mechanisms of p53 core tetramer stability mediated by multi-interface interactions: A molecular dynamics study.

Zhou H et al.

Archives of Biochemistry and Biophysics, 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

Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.

Pinheiro M et al.

Nature Communications, 2024

39266536 (PubMed )
Supplement: 41467_2024_51713_MOESM5_ESM.xlsx › Data_2

Prevalence of germline variants in Brazilian pancreatic carcinoma patients.

Rodrigues LM et al.

Scientific Reports, 2024

39256447 (PubMed )
Supplement: 41598_2024_71884_MOESM1_ESM.docx

Identification of TP53 germline variants in pediatric patients undergoing tumor testing: strategy and prevalence.

Luo M et al.

Journal of the National Cancer Institute, 2024

Mutations in the TP53, VEGFA, and CTH Genes as Key Molecular Markers for the Diagnosis of Glioblastoma.

Khalil SS et al.

Cureus, 2024

Synchronous papillary and follicular thyroid carcinomas: the first retrospective cohort study and literature review.

Ye WD et al.

Translational Cancer Research, 2024

Distinct genomic and immunologic tumor evolution in germline TP53-driven breast cancers.

Boruah N et al.

Biorxiv : the Preprint Server for Biology, 2024

38617260 (PubMed )
Supplement: media-2.xlsx › S3

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 › AML

Utility of Circulating Tumor DNA Assay in Identifying Mutations and Guiding Matched Targeted Therapy in Lung Cancers.

Li K et al.

Clinical Medicine Insights. Oncology, 2024

39429681 (PubMed )
Supplement: sj-xlsx-9-onc-10.1177_11795549241285238.xlsx › Sheet1

Arsenic trioxide extends survival of Li-Fraumeni syndrome mimicking mouse.

Li J et al.

Cell Death & Disease, 2023

38030599 (PubMed )
Supplement: 41419_2023_6281_MOESM9_ESM.xlsx › table11

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-mmc1.pdf

In-Depth Comparison of Genetic Variants Demonstrates a Close Relationship Between Invasive and Intraductal Components of Prostate Cancer.

Vormittag-Nocito E et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2023

Different impacts of TP53 mutations on cell cycle-related gene expression among cancer types.

Sasaki K et al.

Scientific Reports, 2023

36964217 (PubMed )
Supplement: 41598_2023_32092_MOESM1_ESM.xlsx › Suppl._Table_S4

Pharmacogenomic profiling reveals molecular features of chemotherapy resistance in IDH wild-type primary glioblastoma.

Nam Y et al.

Genome Medicine, 2023

36915208 (PubMed )
Supplement: 13073_2023_1165_MOESM1_ESM.xlsx › Table_S2

Assessment of the Mutation Profile of Tonsillar Squamous Cell Carcinomas Using Targeted Next-Generation Sequencing.

Park HY et al.

Biomedicines, 2023

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.

Munté E et al.

Bioinformatics (oxford, England), 2023

36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST12-TP53

How should we address the inevitable harms from non-negligent variant reclassification in predictive genetic testing?

Rashkin M et al.

Journal of Genetic Counseling, 2023

Recurrent missense variants in clonal hematopoiesis-related genes present in the general population.

Ariste O et al.

Clinical Genetics, 2023

36353970 (PubMed )
Supplement: CGE-103-247-s001.xlsx › Variants_in_CHIP_Genes

Characterization of driver mutations in Chinese non-small cell lung cancer patients using a novel targeted sequencing panel.

Zhao J et al.

Journal of Thoracic Disease, 2022

Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer.

Park JS et al.

Cancer Research and Treatment, 2022

Frequency of germline genetic variants in women with a personal or family history of breast cancer from Brazil.

Pereira JZ et al.

Molecular Biology Reports, 2022

Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.

Ghezelayagh TS et al.

Cancer Research Communications, 2022

36311816 (PubMed )
Supplement: crc-22-0314-s02.xlsx › Table_S6_List_of_mutations

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

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

Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Kar SP et al.

Nature Genetics, 2022

35835912 (PubMed )
Supplement: 41588_2022_1121_MOESM3_ESM.xlsx › ST4

Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.

Klonowska K et al.

The Journal of Clinical Investigation, 2022

35358092 (PubMed )
Supplement: jci-132-155858-s188.xlsx › Supplemental_Table_5.2.

Endometrial Carcinoma as the Presenting Malignancy in a Teenager With a Pathogenic TP53 Germline Mutation: A Case Report and Literature Review.

Irshaid L et al.

International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists, 2022

Application of mTORC1 Inhibitors for Tissue-Agnostic Management of Standard-Therapy-Refractory Solid Tumors.

Taghizadeh H et al.

Cancers, 2022

TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.

Ben-Cohen G et al.

Briefings in Bioinformatics, 2022

35043155 (PubMed )
Supplement: supplementary_information_bbab524.pdf

Genomic landscape of pathogenic mutation of APC, KRAS, TP53, PIK3CA, and MLH1 in Indonesian colorectal cancer.

Marbun VMG 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

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_14

TP53 mutations are associated with primary endocrine resistance in luminal early breast cancer.

Grote I et al.

Cancer Medicine, 2021

34779146 (PubMed )
Supplement: CAM4-10-8581-s002.xlsx › Supplementary_Table_S2

Comprehensive Identification of Deleterious TP53 Missense VUS Variants Based on Their Impact on TP53 Structural Stability.

Tam B et al.

International Journal of Molecular Sciences, 2021

34768775 (PubMed )
Supplement: ijms-22-11345-s001.zip › Supplementary_table › Supplementary_table_1.xlsx › Sheet1
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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."