Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.R202H
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TP53

NM_000546.6:p.R202H

Associated Papers

Evaluation of non-canonical p53 functions in DNA replication and recombination for variant classification.

Jansche R et al.

Cell Death & Disease, 2026

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 › TableS2

SOMATIC GENE VARIANTS IN UNRESECTABLE CUTANEOUS MELANOMA CELLS AND DETECTION OF PHARMACOGENOMIC MARKERS: INFLUENCE ON STRATEGY OF EFFECTIVE CANCER TREATMENT.

Gulkovskyi R et al.

Experimental Oncology, 2025

Assessing endocrine resistance: monitoring circulating ESR1 mutations in Irosustat-treated ER positive breast cancer.

Page K et al.

Breast Cancer Research and Treatment, 2025

41364261 (PubMed )
Supplement: 10549_2025_7857_MOESM7_ESM.xlsx › Supp_Table_4

Characterization of the mutational status of glioblastoma and high-grade astrocytomas in a Latin American cohort.

Fernández-Gajardo R et al.

Scientific Reports, 2025

41044136 (PubMed )
Supplement: 41598_2025_6129_MOESM1_ESM.xlsx › Supp_Table_2

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

TP53 Mutation Status in Myelodysplastic Neoplasm and Acute Myeloid Leukemia: Impact of Reclassification Based on the 5th WHO and International Consensus Classification Criteria: A Korean Multicenter Study.

Kim HY et al.

Annals of Laboratory Medicine, 2025

39497415 (PubMed )
Supplement: alm-45-2-160-supple.pdf

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

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

Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.

Liu XD et al.

Heliyon, 2024

38496837 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Molecular and clinicopathological features of KIT/PDGFRA wild-type gastrointestinal stromal tumors.

Nishida T et al.

Cancer Science, 2024

Comparison of TP53 mutations in myelodysplasia and acute leukemia suggests divergent roles in initiation and progression.

Jambhekar A et al.

Blood Neoplasia, 2024

40453522 (PubMed )
Supplement: BNEO_NEO-2023-000115-mmc1.xlsx › AML

Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.

Kubota Y et al.

Nature Communications, 2024

38418452 (PubMed )
Supplement: 41467_2024_46134_MOESM5_ESM.xlsx › Supplementary_Data_2

Somatic mutation detection and KRAS amplification in testicular germ cell tumors.

Cabral ERM et al.

Frontiers in Oncology, 2023

PIK3CA mutations associated with a poor postoperative prognosis in patients with pulmonary pleomorphic carcinoma: a retrospective cohort study.

Kojima K et al.

Bmc Cancer, 2022

36243681 (PubMed )
Supplement: 12885_2022_10176_MOESM1_ESM.xlsx › Sheet1

Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.

Ghezelayagh TS et al.

Cancer Research Communications, 2022

36311816 (PubMed )
Supplement: crc-22-0314-s02.xlsx › Table_S6_List_of_mutations

SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.

Medeiros JJF et al.

Bioinformatics (oxford, England), 2022

35150236 (PubMed )
Supplement: btac081_supplementary_data.zip › Table_S4.xlsx › Clinically_reported_SNVs

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

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_S2a

Genomic profile of advanced breast cancer in circulating tumour DNA.

Kingston B et al.

Nature Communications, 2021

33893289 (PubMed )
Supplement: 41467_2021_22605_MOESM4_ESM.xlsx › SNVs_Indels

Landscape of somatic mutations in breast cancer: new opportunities for targeted therapies in Saudi Arabian patients.

Barakeh DH et al.

Oncotarget, 2021

33868589 (PubMed )
Supplement: oncotarget-12-686-s002.xlsx › Sheet1

Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era.

França MM et al.

Journal of the Endocrine Society, 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

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y et al.

Nature Communications, 2018

30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM5_ESM.xlsx › SD2

Genetic variations of bone marrow mesenchymal stromal cells derived from acute leukemia and myelodysplastic syndrome by targeted deep sequencing.

Azuma K et al.

Leukemia Research, 2017

Tracking sub-clonal TP53 mutated tumor cells in human metastatic renal cell carcinoma.

Bousquet G et al.

Oncotarget, 2015

Comparative sequencing analysis reveals high genomic concordance between matched primary and metastatic colorectal cancer lesions.

Brannon AR et al.

Genome Biology, 2014

25164765 (PubMed )
Supplement: 13059_2014_454_MOESM1_ESM.xlsx › Sheet1

TP53 mutations in human cancer: database reassessment and prospects for the next decade.

Leroy B et al.

Human Mutation, 2014

24665023 (PubMed )
Supplement: supplement_1.pdf

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.s006.xls › Table_S-4

Analysis of p53 and Bak gene mutations in lymphoproliferative disorders developing in rheumatoid arthritis.

Xu JX et al.

Journal of Cancer Research and Clinical Oncology, 2007

p53 mutations and expression in breast carcinoma in situ.

Lukas J et al.

The American Journal of Pathology, 2000

WAF1/Cip1 gene polymorphism and expression in carcinomas of the breast, ovary, and endometrium.

Lukas J et al.

The American Journal of Pathology, 1997

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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."