Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.R175L
Back to variants list

TP53

NM_000546.6:p.R175L

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

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

Concurrent genomic assessment of circulating tumour cells and ctDNA to guide therapy in metastatic breast cancer.

Allsopp RC et al.

Bmc Cancer, 2025

41351070 (PubMed )
Supplement: 12885_2025_15187_MOESM1_ESM.zip › Supp_Table_1.xlsx › Sheet1

A prospective, multicenter, comprehensive genomic profile signature study in patients with EGFR-mutant advanced non-small cell lung cancer at the first-line treatment failure of osimertinib.

Shi Y et al.

Signal Transduction and Targeted Therapy, 2025

41326340 (PubMed )
Supplement: 41392_2025_2481_MOESM1_ESM.docx

Multiple early onset atypical cutaneous fibrous histiocytomas in multilocus inherited neoplasia allele syndrome involving TP53 and FLCN genes.

Schirwani S et al.

Journal of Medical Genetics, 2025

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

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

Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.

Scollon S et al.

Jco Precision Oncology, 2025

41166674 (PubMed )
Supplement: po-9-e2500742-s001.pdf

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

Fischer NW et al.

Nature Communications, 2025

A universal approach for mutation identification with a DNA probe-enzyme combination platform.

Li B et al.

Analytical Methods : Advancing Methods and Applications, 2025

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

Clinical Sequence Revealed the Prevalence and Biological Significance of Somatic Pathogenic Variants in Thoracic Cancer: Implications for Germline Status.

Fukushima T et al.

Clinical Lung Cancer, 2025

Circulating tumor DNA profiling for non-invasive genomic analysis in Indian lung cancer patients: A real-world experience.

Jha P et al.

The Journal of Liquid Biopsy, 2025

40503459 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S2

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 theory of massively repeated evolution and full identifications of cancer-driving nucleotides (CDNs).

Zhang L et al.

Elife, 2024

39688960 (PubMed )
Supplement: elife-99340-supp1.xlsx › CDN.Missense.gnomad

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

The SOS1 Inhibitor MRTX0902 Blocks KRAS Activation and Demonstrates Antitumor Activity in Cancers Dependent on KRAS Nucleotide Loading.

Sudhakar N et al.

Molecular Cancer Therapeutics, 2024

38904222 (PubMed )
Supplement: mct-23-0870_supplementary_table_s1_supps1.pdf

Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.

López Rivera JJ et al.

Journal of Personalized Medicine, 2024

39338229 (PubMed )
Supplement: jpm-14-00975-s001.zip › SUPPLEMENTARY_DATA.xlsx › Table_S2

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

Navigating the complexity of p53-DNA binding: implications for cancer therapy.

Thayer KM et al.

Biophysical Reviews, 2024

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

An engineered DNA aptamer-based PROTAC for precise therapy of p53-R175H hotspot mutant-driven cancer.

Kong L et al.

Science Bulletin, 2024

Association of ESR1 Germline Variants with TP53 Somatic Variants in Breast Tumors in a Genome-wide Study.

Tjader NP et al.

Cancer Research Communications, 2024

38836758 (PubMed )
Supplement: crc-24-0026-s01.docx

Targeting WEE1 enhances the antitumor effect of KRAS-mutated non-small cell lung cancer harboring TP53 mutations.

Fukuda K et al.

Cell Reports. Medicine, 2024

38776912 (PubMed )
Supplement: mmc1.pdf

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

Khalil SS et al.

Cureus, 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

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

Resistance to BRAF inhibition explored through single circulating tumour cell molecular profiling in BRAF-mutant non-small-cell lung cancer.

Mezquita L et al.

British Journal of Cancer, 2024

Loss-of-Function but Not Gain-of-Function Properties of Mutant TP53 Are Critical for the Proliferation, Survival, and Metastasis of a Broad Range of Cancer Cells.

Wang Z et al.

Cancer Discovery, 2024

Exploring the frequency of a TP53 polyadenylation signal variant in tumor DNA from patients diagnosed with lung adenocarcinomas, sarcomas and uterine leiomyomas.

Vieira IA et al.

Genetics and Molecular Biology, 2024

Genomic landscape and tumor mutational features of resected preinvasive to invasive lung adenocarcinoma.

Lin Y et al.

Frontiers in Oncology, 2024

38803537 (PubMed )
Supplement: Table_1.xlsx › Table_S3

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

38948361 (PubMed )
Supplement: Table6.XLSX › Sheet1

Genomic profiling of NSCLC tumors with the TruSight oncology 500 assay provides broad coverage of clinically actionable genomic alterations and detection of known and novel associations between genomic alterations, TMB, and PD-L1.

Wallen ZD et al.

Frontiers in Oncology, 2024

39664186 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

Emerging insights into ethnic-specific TP53 germline variants.

Fischer NW et al.

Journal of the National Cancer Institute, 2023

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

Kou SH et al.

Nar Cancer, 2023

TP53 mutation prevalence in normal airway epithelium as a biomarker for lung cancer risk.

Craig DJ et al.

Bmc Cancer, 2023

37612638 (PubMed )
Supplement: 12885_2023_11266_MOESM1_ESM.xlsx › Sup._Table_5

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

Whole-genome sequencing of 20 cholangiocarcinoma cases reveals unique profiles in patients with cirrhosis and primary sclerosing cholangitis.

Holzapfel N et al.

Journal of Gastrointestinal Oncology, 2023

Utilization of cytologic cell blocks for targeted sequencing of solid tumors.

Vormittag-Nocito E et al.

Cancer Medicine, 2023

36125633 (PubMed )
Supplement: CAM4-12-4042-s001.xlsx › Sheet1

Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors.

van de Beek I et al.

Molecular Genetics & Genomic Medicine, 2023

Drugs Targeting p53 Mutations with FDA Approval and in Clinical Trials.

Nishikawa S et al.

Cancers, 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
1–50 of 162 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."