Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.V217M
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TP53

NM_000546.6:p.V217M

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

GnomAD Missense Variants of Uncertain Significance: Implications for p53 Stability and Phosphorylation.

García-Ayala FD et al.

International Journal of Molecular Sciences, 2025

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

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

Abduljaleel Z

Genes & Genomics, 2024

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

Pharmacological reactivation of p53 in the era of precision anticancer medicine.

Tuval A et al.

Nature Reviews. Clinical Oncology, 2024

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

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

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_S2c

TP53 Mutation Analysis in Gastric Cancer and Clinical Outcomes of Patients with Metastatic Disease Treated with Ramucirumab/Paclitaxel or Standard Chemotherapy.

Graziano F et al.

Cancers, 2020

An update on the central nervous system manifestations of Li-Fraumeni syndrome.

Orr BA et al.

Acta Neuropathologica, 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

Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.

de Andrade KC et al.

Human Mutation, 2019

30352134 (PubMed )
Supplement: supplement_1.xlsx › Supplementary_Table_1

Single-Nucleotide Polymorphism of the MLX Gene Is Associated With Takayasu Arteritis.

Tamura N et al.

Circulation. Genomic and Precision Medicine, 2018

A Systematic p53 Mutation Library Links Differential Functional Impact to Cancer Mutation Pattern and Evolutionary Conservation.

Kotler E et al.

Molecular Cell, 2018

Low Variability and Stable Frequency of Common Haplotypes of the TP53 Gene Region in Colorectal Cancer Patients in a Slovak Population.

Škereňová M et al.

Anticancer Research, 2017

Targeted and exome sequencing identified somatic mutations in hepatocellular carcinoma.

Hirotsu Y et al.

Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2016

26850916 (PubMed )
Supplement: supplement_1.xlsx › Table_S4

Homozygous deletions of UGT2B17 modifies effects of smoking on TP53-mutations and relapse of head and neck carcinoma.

Mafune A et al.

Bmc Cancer, 2015

Recommendations for analyzing and reporting TP53 gene variants in the high-throughput sequencing era.

Soussi T et al.

Human Mutation, 2014

Mapping the p53 transcriptome universe using p53 natural polymorphs.

Wang B et al.

Cell Death and Differentiation, 2014

Computational screening and molecular dynamic simulation of breast cancer associated deleterious non-synonymous single nucleotide polymorphisms in TP53 gene.

Chitrala KN et al.

Plos One, 2014

Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

Wang J et al.

Plos One, 2014

25372392 (PubMed )
Supplement: pone.0111694.s006.pdf

Association between p53 gene variants and oral cancer susceptibility in population from Gujarat, West India.

Patel KR et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2013

Distinct effects of alcohol consumption and smoking on genetic alterations in head and neck carcinoma.

Urashima M et al.

Plos One, 2013

IDH1 and IDH2 mutations, immunohistochemistry and associations in a series of brain tumors.

Mellai M et al.

Journal of Neuro-oncology, 2011

Cancer-associated p53 tetramerization domain mutants: quantitative analysis reveals a low threshold for tumor suppressor inactivation.

Kamada R et al.

The Journal of Biological Chemistry, 2011

TP53 mutations in human cancers: origins, consequences, and clinical use.

Olivier M et al.

Cold Spring Harbor Perspectives in Biology, 2010

High incidence of protein-truncating TP53 mutations in BRCA1-related breast cancer.

Holstege H et al.

Cancer Research, 2009

p53 polymorphisms: cancer implications.

Whibley C et al.

Nature Reviews. Cancer, 2009

Common genetic variation in TP53 is associated with lung cancer risk and prognosis in African Americans and somatic mutations in lung tumors.

Mechanic LE et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2007

17301252 (PubMed )
Supplement: 10559965epi060790-sup-cebp_2-1-07_mechanic_et_al.pdf

Mutational analysis of TP53 and p21 in familial and sporadic ovarian cancer in Japan.

Amikura T et al.

Gynecologic Oncology, 2006

Mutational analysis of BRCA1 and BRCA2 and clinicopathologic analysis of ovarian cancer in 82 ovarian cancer families: two common founder mutations of BRCA1 in Japanese population.

Sekine M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2001

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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."