Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.F270I
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TP53

NM_000546.6:p.F270I

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

Age-Related Multigene Analysis of Colorectal Cancer Using Next-Generation Sequencing.

Kozlowska-Geller M et al.

Cancers, 2025

41463160 (PubMed )
Supplement: cancers-17-03909-s001.zip › cancers-3953905-supplementary.pdf

Identification of high-risk signatures and therapeutic targets through molecular characterization and immune profiling of TP53-mutant breast cancer.

Paulino PJIV et al.

Journal, Genetic Engineering & Biotechnology, 2025

41386839 (PubMed )
Supplement: mmc5.xlsx › Table_S2

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_MOESM7_ESM.xlsx › Sheet1

Deep Sequencing Reveals Novel Mutations in Androgen Receptor-Related Genes in Prostate Cancer.

Pedroza-Torres A et al.

International Journal of Molecular Sciences, 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

High-Frequency Mutations in TP53, AXIN1, CTNNB1, and KRAS, and Polymorphisms in JAK1 Genes Among Mongolian HCC Patients.

Bold N et al.

Cancer Reports (hoboken, N.j.), 2025

Genetic Alterations, Therapy Response, and Survival Among Patients With Triple-Negative Breast Cancer: A Secondary Analysis of a Randomized Clinical Trial.

Richters L et al.

Jama Network Open, 2025

40009381 (PubMed )
Supplement: jamanetwopen-e2461639-s002.pdf

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

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

The TP53-activated E3 ligase RNF144B is a tumour suppressor that prevents genomic instability.

Abad E et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2024

38685100 (PubMed )
Supplement: 13046_2024_3045_MOESM2_ESM.xlsx › Patient_p53_mutated_samples

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

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

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_1.xlsx › Table_S1

Targeting neddylation sensitizes colorectal cancer to topoisomerase I inhibitors by inactivating the DCAF13-CRL4 ubiquitin ligase complex.

Sun Y et al.

Nature Communications, 2023

37353483 (PubMed )
Supplement: 41467_2023_39374_MOESM4_ESM.pdf

Diverse rescue potencies of p53 mutations to ATO are predetermined by intrinsic mutational properties.

Song H et al.

Science Translational Medicine, 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

Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Boström M et al.

Nature Communications, 2022

36396655 (PubMed )
Supplement: 41467_2022_34746_MOESM10_ESM.xlsx › Supplementary_Data_7

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

RNA-SSNV: A Reliable Somatic Single Nucleotide Variant Identification Framework for Bulk RNA-Seq Data.

Long Q et al.

Frontiers in Genetics, 2022

35846154 (PubMed )
Supplement: Table6.XLSX › LUSC

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

TP53 Combined Phenotype Score Is Associated with the Clinical Outcome of TP53-Mutated Myelodysplastic Syndromes.

Yabe M et al.

Cancers, 2021

34771665 (PubMed )
Supplement: cancers-13-05502-s001.zip › cancers-1422438-supplementary.pdf

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_15.xlsx › Sheet1

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

Targeted Next-Generation Sequencing of Plasma Cell-Free DNA in Korean Patients with Hepatocellular Carcinoma.

Chae H et al.

Annals of Laboratory Medicine, 2021

Identification of relevant genetic alterations in cancer using topological data analysis.

Rabadán R et al.

Nature Communications, 2020

32732999 (PubMed )
Supplement: 41467_2020_17659_MOESM3_ESM.xls › TableS1

Detection of somatic TP53 mutation in surgically resected small-cell lung cancer by targeted exome sequencing: association with longer relapse-free survival.

Yokouchi H et al.

Heliyon, 2020

From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.

Quinn EA et al.

Cold Spring Harbor Molecular Case Studies, 2019

30886117 (PubMed )
Supplement: supp_mcs.a003921_Supplemental_Table_1a.xlsx › S_Table1a._TP53_in_ClinVar

Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Brown AL et al.

Plos Computational Biology, 2019

31034466 (PubMed )
Supplement: pcbi.1006981.s010.xlsx › final_benchmark

Copy number variations in atypical fibroxanthomas and pleomorphic dermal sarcomas.

Helbig D et al.

Oncotarget, 2017

Using a semi-conductor sequencing-based panel for genotyping of HPV-positive and HPV-negative oropharyngeal cancer: a retrospective pilot study.

Ham JC et al.

Clinical Otolaryngology : Official Journal of Ent-uk ; Official Journal of Netherlands Society for Oto-rhino-laryngology & Cervico-facial Surgery, 2017

TP53 exon-6 truncating mutations produce separation of function isoforms with pro-tumorigenic functions.

Shirole NH et al.

Elife, 2016

27759562 (PubMed )
Supplement: elife-17929-supp2.xlsx › Sheet3

Mutational landscape and significance across 12 major cancer types.

Kandoth C et al.

Nature, 2013

24132290 (PubMed )
Supplement: 41586_2013_BFnature12634_MOESM82_ESM.zip › nature12634-s1 › Supplementary_Table_5.xlsx › S_Table_5

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

Transitions at CpG dinucleotides, geographic clustering of TP53 mutations and food availability patterns in colorectal cancer.

Verginelli F et al.

Plos One, 2009

19718455 (PubMed )
Supplement: pone.0006824.s006.xls › CRC-mutation_database

Structural basis for understanding oncogenic p53 mutations and designing rescue drugs.

Joerger AC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2006

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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."