Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.Q331_I332Splc
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TP53

NM_000546.6:p.Q331_I332Splc

Associated Papers

Functional validation of somatic variability in TP53 and KRAS for prediction of platinum sensitivity and prognosis in epithelial ovarian carcinoma patients.

Mohammad AOA et al.

Cancer Biology & Therapy, 2025

40785058 (PubMed )
Supplement: KCBT_A_2543105_SM8423.docx

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

Abduljaleel Z

Genes & Genomics, 2024

Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.

Plowman JN et al.

Hgg Advances, 2024

38734904 (PubMed )
Supplement: mmc2.xlsx › Table_S5

Previously reported CCDC26 risk variant and novel germline variants in GALNT13, AR, and MYO10 associated with familial glioma in Finland.

Nurminen R et al.

Scientific Reports, 2024

DNA Sequencing of CD138 Cell Population Reveals TP53 and RAS-MAPK Mutations in Multiple Myeloma at Diagnosis.

Dragomir M et al.

Cancers, 2024

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 › BVs

Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.

Matta BP et al.

Scientific Reports, 2022

36329109 (PubMed )
Supplement: 41598_2022_23012_MOESM2_ESM.xlsx › Supplementary_Table_S2_

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

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 › SPC36

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

Nucleotide variants and protein expression of TP53 in a Sri Lankan cohort of patients with head and neck cancer.

Manoharan V et al.

Molecular Medicine Reports, 2019

Inferior survival for patients with malignant peripheral nerve sheath tumors defined by aberrant TP53.

Høland M et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018

Assessment of TP53 Polymorphisms and MDM2 SNP309 in Premenopausal Breast Cancer Risk.

Samuel N et al.

Human Mutation, 2017

Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil.

Palmero EI et al.

Genetics and Molecular Biology, 2016

Germline TP53 mutational spectrum in French Canadians with breast cancer.

Arcand SL et al.

Bmc Medical Genetics, 2015

Multiplex amplification coupled with COLD-PCR and high resolution melting enables identification of low-abundance mutations in cancer samples with low DNA content.

Milbury CA et al.

The Journal of Molecular Diagnostics : Jmd, 2011

Genetic Variations in TP53, RB1, and PTEN in a Selected Sample of Slovak Patients With Metastatic Castration-resistant Prostate Cancer.

Holeckova KH et al.

In Vivo (athens, Greece), 0

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