Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.E224K
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TP53

NM_000546.6:p.E224K

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

Inhibition of GPX4 induces the death of p53-mutant triple-negative breast cancer cells.

Tahaney WM et al.

Breast Cancer Research and Treatment, 2026

41493644 (PubMed )
Supplement: 10549_2025_7865_MOESM12_ESM.xlsx › Table_S5

Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes.

Srinivasan S et al.

Bmc Genomics, 2025

41436921 (PubMed )
Supplement: 12864_2025_12466_MOESM15_ESM.pdf

Exploring the Genetic Landscape of Primary Marginal Zone Lymphoma of the Urinary Bladder.

Balestri I et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53.

Fortuno C et al.

Hgg Advances, 2025

40696762 (PubMed )
Supplement: mmc2.xlsx › Supplemental_Table_3

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 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

Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumoronly versus paired tumor-normal sequencing.

Newman H et al.

Haematologica, 2024

38385299 (PubMed )
Supplement: 2023_284855_NEWMAN_SUPPL.pdf

Molecular Characterization and Subtyping of Breast Cancer Cell Lines Provide Novel Insights into Cancer Relevant Genes.

Pommerenke C et al.

Cells, 2024

38391914 (PubMed )
Supplement: cells-13-00301-s001.zip › Table_S2.xlsx › Mutations

Small-molecule inhibition of kinesin KIF18A reveals a mitotic vulnerability enriched in chromosomally unstable cancers.

Payton M et al.

Nature Cancer, 2024

38151625 (PubMed )
Supplement: 43018_2023_699_MOESM2_ESM.xls › Suppl_Table_S3_PRISM

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 2016-06640A1.xls › SNVIndel

A machine learning and directed network optimization approach to uncover TP53 regulatory patterns.

Triantafyllidis CP et al.

Iscience, 2023

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

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

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

Circulating tumor DNA sequencing in colorectal cancer patients treated with first-line chemotherapy with anti-EGFR.

Lim Y et al.

Scientific Reports, 2021

34381078 (PubMed )
Supplement: 41598_2021_95345_MOESM6_ESM.xlsx › Suppl._Table_5

Validation of a liquid biopsy assay with molecular and clinical profiling of circulating tumor DNA.

Finkle JD et al.

Npj Precision Oncology, 2021

34215841 (PubMed )
Supplement: 41698_2021_202_MOESM1_ESM.pdf

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

Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Popp B et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

32612247 (PubMed )
Supplement: 41379_2020_596_MOESM2_ESM.xlsx › FH_ClinVar

ctDNA facilitated the diagnosis of a patient with synchronous urothelial carcinoma and non-small cell lung cancer: case report.

Qian C et al.

Annals of Translational Medicine, 2020

High Proportion of Potential Candidates for Immunotherapy in a Chilean Cohort of Gastric Cancer Patients: Results of the FORCE1 Study.

Cordova-Delgado M et al.

Cancers, 2019

31480291 (PubMed )
Supplement: cancers-11-01275-s001.zip › Supplementary_data_file_1.xlsx › DNA

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

Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma.

Wong K et al.

Nature Communications, 2019

30664638 (PubMed )
Supplement: 41467_2018_8081_MOESM5_ESM.xlsx › Equine-all_other

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

Giacomelli AO et al.

Nature Genetics, 2018

30224644 (PubMed )
Supplement: NIHMS1501645-supplement-3.xlsx › Sheet1

Mutational landscape reflects the biological continuum of plasma cell dyscrasias.

Rossi A et al.

Blood Cancer Journal, 2017

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

Towards a Next-Generation Sequencing Diagnostic Service for Tumour Genotyping: A Comparison of Panels and Platforms.

Burghel GJ et al.

Biomed Research International, 2015

Frequent inactivating mutations of STAG2 in bladder cancer are associated with low tumour grade and stage and inversely related to chromosomal copy number changes.

Taylor CF et al.

Human Molecular Genetics, 2014

24270882 (PubMed )
Supplement: supp_ddt589_ddt589supp_table5.pdf

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

Predicting the functional impact of protein mutations: application to cancer genomics.

Reva B et al.

Nucleic Acids Research, 2011

21727090 (PubMed )
Supplement: supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls › Sheet1

Epidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events.

Chen Z et al.

Plos One, 2008

19005564 (PubMed )
Supplement: pone.0003714.s007.xls › Table_s-5
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