Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.G293R
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TP53

NM_000546.6:p.G293R

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

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

Mis-splicing drives loss of function of p53E224D point mutation.

Lock IC et al.

Plos One, 2025

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

Mis-splicing Drives Loss of Function of p53E224D Point Mutation.

Lock IC et al.

Biorxiv : the Preprint Server for Biology, 2023

Targeted Next-Generation Sequencing-Based Multiple Gene Mutation Profiling of Patients with Rectal Adenocarcinoma Receiving or Not Receiving Neoadjuvant Chemoradiotherapy.

Chang YK et al.

International Journal of Molecular Sciences, 2022

36142267 (PubMed )
Supplement: ijms-23-10353-s001.zip › ijms-1910530-supplementary.pdf

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

Molecular Classification to Prognosticate Response in Medically Managed Endometrial Cancers and Endometrial Intraepithelial Neoplasia.

Puechl AM et al.

Cancers, 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_S2c

Combining Ramachandran plot and molecular dynamics simulation for structural-based variant classification: Using TP53 variants as model.

Tam B et al.

Computational and Structural Biotechnology Journal, 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

Clinical aspects of TP53 gene inactivation in diffuse large B-cell lymphoma.

Voropaeva EN et al.

Bmc Medical Genomics, 2019

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

appreci8: a pipeline for precise variant calling integrating 8 tools.

Sandmann S et al.

Bioinformatics (oxford, England), 2018

29945233 (PubMed )
Supplement: bty518_supplementary_data_s5.xlsx › TN_Mutations_Filter_1

Three dimensional primary cultures for selecting human breast cancers that are sensitive to the anti-tumor activity of ipatasertib or taselisib in combination with anti-microtubule cytotoxic drugs.

Orditura M et al.

Breast (edinburgh, Scotland), 2018

Wild-type p53 upregulates an early onset breast cancer-associated gene GAS7 to suppress metastasis via GAS7-CYFIP1-mediated signaling pathway.

Chang JW et al.

Oncogene, 2018

29706651 (PubMed )
Supplement: 41388_2018_253_MOESM1_ESM.pdf

Response to rapamycin analogs but not PD-1 inhibitors in PTEN-mutated metastatic non-small-cell lung cancer with high tumor mutational burden.

Parikh AR et al.

Lung Cancer (auckland, N.z.), 2018

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

Cell cycle deregulation and TP53 and RAS mutations are major events in poorly differentiated and undifferentiated thyroid carcinomas.

Pita JM et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

Skin tumors induced by sorafenib; paradoxic RAS-RAF pathway activation and oncogenic mutations of HRAS, TP53, and TGFBR1.

Arnault JP et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2012

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

Holstege H et al.

Cancer Research, 2009

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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."