Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.L344P
Back to variants list

TP53

NM_000546.6:p.L344P

Associated Papers

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

Fischer NW et al.

Nature Communications, 2025

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

Li Fraumeni syndrome in the UK: clinical characteristics and outcomes of TP53 carriers.

Finn E et al.

Esmo Open, 2025

TNF-α -1031T/C and -863C/A polymorphisms are associated with dyslipidaemia.

Lin K et al.

The British Journal of Nutrition, 2025

The Prolonged Half-Life of the p53 Missense Variant R248Q Promotes Accumulation and Heterotetramer Formation with Wild-Type p53 to Exert the Dominant-Negative Effect.

Klemm N et al.

Cancer Research, 2025

TP53 Mutation Status in Myelodysplastic Neoplasm and Acute Myeloid Leukemia: Impact of Reclassification Based on the 5th WHO and International Consensus Classification Criteria: A Korean Multicenter Study.

Kim HY et al.

Annals of Laboratory Medicine, 2025

39497415 (PubMed )
Supplement: alm-45-2-160-supple.pdf

Personalized screening strategies for TP53 R337H carriers: a retrospective cohort study of tumor spectrum in Li-Fraumeni syndrome adult carriers.

Galante PAF et al.

Lancet Regional Health. Americas, 2025

39895904 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Detection of clinically relevant variants in the TP53 gene below 10% allelic frequency: A multicenter study by ERIC, the European Research Initiative on CLL.

Pavlova S et al.

Hemasphere, 2025

39840379 (PubMed )
Supplement: HEM3-9-e70065-s001.xlsx › Table_S5

Correlation of p53 oligomeric status and its subcellular localization in the presence of the AML-associated NPM mutant.

Holoubek A et al.

Plos One, 2025

Interaction of p53 with the Δ133p53α and Δ160p53α isoforms regulates p53 conformation and transcriptional activity.

Tomas F et al.

Cell Death & Disease, 2024

39562560 (PubMed )
Supplement: 41419_2024_7213_MOESM1_ESM.pdf

Association between cytokine polymorphisms and recurrent pregnancy loss: A review of current evidence.

Stavros S et al.

International Journal of Gynaecology and Obstetrics: the Official Organ of the International Federation of Gynaecology and Obstetrics, 2024

Decoding Missense Variants by Incorporating Phase Separation via Machine Learning.

Feng M et al.

Nature Communications, 2024

39333476 (PubMed )
Supplement: 41467_2024_52580_MOESM4_ESM.xlsx › impact_ps_mutations

Targeted Next Generation Sequencing molecular profiling and its clinical application in adrenocortical cancer.

Cioppi F et al.

European Journal of Endocrinology, 2024

Influence of TP53 mutation on efficacy and survival in advanced EGFR-mutant non-small cell lung cancer patients treated with third-generation EGFR tyrosine kinase inhibitors.

Zhang Z et al.

Medcomm, 2024

38832214 (PubMed )
Supplement: MCO2-5-e586-s001.docx

Outcome heterogeneity of TP53-mutated myeloid neoplasms and the role of allogeneic hematopoietic cell transplantation.

Pasca S et al.

Haematologica, 2024

37731390 (PubMed )
Supplement: 2023_283886_PASCA_SUPPL.pdf

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

Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.

Kubota Y et al.

Nature Communications, 2024

38418452 (PubMed )
Supplement: 41467_2024_46134_MOESM5_ESM.xlsx › Supplementary_Data_2

Computational analysis of protein-protein interactions of cancer drivers in renal cell carcinoma.

Pei J et al.

Febs Open Bio, 2024

37964489 (PubMed )
Supplement: FEB4-14-112-s002.xlsx › AlphaFold_models

An Investigation of the Immune Microenvironment and Genome during Lung Adenocarcinoma Development.

Wang Q et al.

Journal of Cancer, 2024

38370388 (PubMed )
Supplement: jcav15p1687s1.zip › Supplementary_Materials › Clinical_and_Genomic_Data.xlsx › Gene_mutation

The heterogeneous impact of targeted therapy on the prognosis of stage III/IV colorectal cancer patients with different subtypes of TP53 mutations.

Chen J et al.

Cancer Medicine, 2023

38063316 (PubMed )
Supplement: CAM4-12-21920-s005.xlsx › original_data

Ring Chromosomes in Hematological Malignancies Are Associated with TP53 Gene Mutations and Characteristic Copy Number Variants.

Boyd RJ et al.

Cancers, 2023

38001699 (PubMed )
Supplement: cancers-15-05439-s001.zip › cancers-2676276-supplementary.pdf

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

Genetic mutations in HER2-positive breast cancer: possible association with response to trastuzumab therapy.

Zakaria NH et al.

Human Genomics, 2023

Application of Genomic Sequencing to Refine Patient Stratification for Adjuvant Therapy in Renal Cell Carcinoma.

Vasudev NS et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

36815791 (PubMed )
Supplement: ccr-22-1936_supplementary_table_s2_suppts2.xlsx › Sheet1

Clinical sequencing identifies potential actionable alterations in a high rate of urachal and primary bladder adenocarcinomas.

Varadi M et al.

Cancer Medicine, 2023

36670542 (PubMed )
Supplement: CAM4-12-9041-s001.xlsx › QCI_-_UrC_-_Chemo

Targeting p53 pathways: mechanisms, structures, and advances in therapy.

Wang H et al.

Signal Transduction and Targeted Therapy, 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

Influence of chain length and branching on poly(ADP-ribose)-protein interactions.

Löffler T et al.

Nucleic Acids Research, 2023

The Broad Spectrum of TP53 Mutations in CLL: Evidence of Multiclonality and Novel Mutation Hotspots.

Lazarian G et al.

Human Mutation, 2023

40225169 (PubMed )
Supplement: 4880113.f1.zip › table_S3.xlsx › table_S3

TP53 mutations in functional corticotroph tumors are linked to invasion and worse clinical outcome.

Perez-Rivas LG et al.

Acta Neuropathologica Communications, 2022

APR-246 triggers ferritinophagy and ferroptosis of diffuse large B-cell lymphoma cells with distinct TP53 mutations.

Hong Y et al.

Leukemia, 2022

Different Oligomeric States of the Tumor Suppressor p53 Show Identical Binding Behavior towards the S100β Homodimer.

Wei AAJ et al.

Chembiochem : a European Journal of Chemical Biology, 2022

Synthetic lethality between TP53 and ENDOD1.

Tang Z et al.

Nature Communications, 2022

35606358 (PubMed )
Supplement: 41467_2022_30311_MOESM1_ESM.pdf

Mutual exclusivity of ESR1 and TP53 mutations in endocrine resistant metastatic breast cancer.

Li Z et al.

Npj Breast Cancer, 2022

35538119 (PubMed )
Supplement: 41523_2022_426_MOESM1_ESM.pdf

Soft Tissue Sarcoma Study: Association of Genetic Alterations in the Apoptosis Pathways with Chemoresistance to Doxorubicin.

Kirilin EM et al.

Cancers, 2022

Rapid recruitment of p53 to DNA damage sites directs DNA repair choice and integrity.

Wang YH et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

Mechanistic insight into the destabilization of p53TD tetramer by cancer-related R337H mutation: a molecular dynamics study.

Yu Y et al.

Physical Chemistry Chemical Physics : Pccp, 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

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_3.xlsx › Sheet1

Selective functional inhibition of a tumor-derived p53 mutant by cytosolic chaperones identified using split-YFP in budding yeast.

Denney AS et al.

G3 (bethesda, Md.), 2021

Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.

Ren M et al.

Breast Cancer Research and Treatment, 2021

34196900 (PubMed )
Supplement: 10549_2021_6305_MOESM1_ESM.xlsx › Supplemental_Table_3

p53 mediates target gene association with nuclear speckles for amplified RNA expression.

Alexander KA et al.

Molecular Cell, 2021

1–50 of 142 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."