Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.E224_V225Splc
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TP53

NM_000546.6:p.E224_V225Splc

Associated Papers

Altered expression and mutations in cell cycle genes CCND1, CDK4, CDKN2B and TP53 are associated with Pakistani breast cancer patients.

Tariq W et al.

Molecular Biology Reports, 2026

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

Pedroza-Torres A et al.

International Journal of Molecular Sciences, 2025

41009328 (PubMed )
Supplement: ijms-26-08758-s001.zip › Suppl_Table_1.xlsx › Hoja1

Feasibility of long-read sequencing to identify molecular alterations in an Indonesian cohort of locally advanced to advanced nasopharyngeal cancer.

Handoko et al.

Scientific Reports, 2025

40594369 (PubMed )
Supplement: 41598_2025_6096_MOESM8_ESM.zip › Supp_Data_6 › S1_SNV.xlsx › s1_TP53

Assessing the influence of TP53 polymorphisms and haplotypes on bioelectrical impedance analysis parameters and nutritional status in aging Iranian population.

Montazeri-Najafabady N et al.

Molecular Biology Reports, 2025

Genetic variability profiling of the p53 signaling pathway in chronic lymphocytic leukemia. Individual and combined analysis of TP53, MDM2 and NQO1 gene variants.

Fontecha MB et al.

Annals of Hematology, 2024

Molecular insights into TP53 mutation (p. Arg267Trp) and its connection to Choroid Plexus Carcinomas and Li-Fraumeni Syndrome.

Abduljaleel Z

Genes & Genomics, 2024

Genetic Profiling of Sebaceous Carcinoma Arising from an Ovarian Mature Teratoma: A Case Report.

Zaitsu S et al.

International Journal of Molecular Sciences, 2024

38928057 (PubMed )
Supplement: ijms-25-06351-s001.zip › ijms-3029491-supplementary.pdf

Ultra-deep mutational landscape in chronic lymphocytic leukemia uncovers dynamics of resistance to targeted therapies.

Woolston DW et al.

Haematologica, 2024

37706363 (PubMed )
Supplement: 2023_283372_WOOLSTON_SUPPL.pdf

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

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

Kou SH et al.

Nar Cancer, 2023

Association Between the TP53 Polymorphisms and Breast Cancer Risk: An Updated Meta-Analysis.

Zhao L et al.

Frontiers in Genetics, 2022

The association between TP53 rs1625895 polymorphism and the risk of sarcopenic obesity in Iranian older adults: a case-control study.

Montazeri-Najafabady N et al.

Bmc Musculoskeletal Disorders, 2021

Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Doffe F et al.

Cell Death and Differentiation, 2021

33257846 (PubMed )
Supplement: 41418_2020_672_MOESM3_ESM.xlsx › Table_S2a

Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.

Yoshizawa T et al.

Npj Precision Oncology, 2021

33863983 (PubMed )
Supplement: 41698_2021_170_MOESM4_ESM.xlsx › Pre_Post_Afatinibshared_variant

Higher Mutation Burden in High Proliferation Compartments of Heterogeneous Melanoma Tumors.

Grzywa TM et al.

International Journal of Molecular Sciences, 2021

Prevalence of germline TP53 variants among early-onset breast cancer patients from Polish population.

Rogoża-Janiszewska E et al.

Breast Cancer (tokyo, Japan), 2021

A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

García-Cárdenas JM et al.

Journal of Medical Case Reports, 2020

32867815 (PubMed )
Supplement: 13256_2020_2451_MOESM1_ESM.xlsx › SPC34

Development and validation of a targeted gene sequencing panel for application to disparate cancers.

McCabe MJ et al.

Scientific Reports, 2019

31745186 (PubMed )
Supplement: 41598_2019_52000_MOESM2_ESM.xlsx › Sheet1

Analysis of 75 Candidate SNPs Associated With Acute Rejection in Kidney Transplant Recipients: Validation of rs2910164 in MicroRNA MIR146A.

Oetting WS et al.

Transplantation, 2019

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

Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors.

Aceto GM et al.

Breast Cancer Research and Treatment, 2019

Genetic alterations of triple negative breast cancer (TNBC) in women from Northeastern Mexico.

Uscanga-Perales GI et al.

Oncology Letters, 2019

Genetics of acute rejection after kidney transplantation.

Dorr CR et al.

Transplant International : Official Journal of the European Society for Organ Transplantation, 2018

Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse.

Smetana J et al.

Molecular Cytogenetics, 2018

29375670 (PubMed )
Supplement: 13039_2018_357_MOESM2_ESM.xlsx › variants

Case Report: Exome sequencing reveals recurrent RETSAT mutations and a loss-of-function POLDIP2 mutation in a rare undifferentiated tongue sarcoma.

Chan JYK et al.

F1000research, 2018

Distribution of KRAS, DDR2, and TP53 gene mutations in lung cancer: An analysis of Iranian patients.

Fathi Z et al.

Plos One, 2018

TP53 Mutation Status of Tubo-ovarian and Peritoneal High-grade Serous Carcinoma with a Wild-type p53 Immunostaining Pattern.

Na K et al.

Anticancer Research, 2017

How gene polymorphisms can influence clinical response and toxicity following R-CHOP therapy in patients with diffuse large B cell lymphoma.

Falduto A et al.

Blood Reviews, 2017

Somatic TP53 Mutations in the Era of Genome Sequencing.

Hainaut P et al.

Cold Spring Harbor Perspectives in Medicine, 2016

Identification of a structurally novel BTK mutation that drives ibrutinib resistance in CLL.

Sharma S et al.

Oncotarget, 2016

27626698 (PubMed )
Supplement: oncotarget-07-68833-s002.xlsx › All4CLLSamples

Germline TP53 mutational spectrum in French Canadians with breast cancer.

Arcand SL et al.

Bmc Medical Genetics, 2015

Particular molecular and ultrastructural aspects in invasive mammary carcinoma.

Mihalcea CE et al.

Romanian Journal of Morphology and Embryology = Revue Roumaine De Morphologie Et Embryologie, 2015

Less common genotype variants of TP53 polymorphisms are associated with poor outcome in adult patients with adrenocortical carcinoma.

Heinze B et al.

European Journal of Endocrinology, 2014

Epistatic interaction of Arg72Pro TP53 and -710 C/T VEGFR1 polymorphisms in breast cancer: predisposition and survival.

Rodrigues P et al.

Molecular and Cellular Biochemistry, 2013

Association between polymorphisms in apoptotic genes and susceptibility for developing breast cancer in Syrian women.

Lajin B et al.

Breast Cancer Research and Treatment, 2013

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