Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.R248Q
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TP53

NM_000546.6:p.R248Q

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Innovative Drug and Prodrug Candidates in Cancer Treatment Targeting TP53 Mutations: Challenge and Hope.

Al-Zoubi RM et al.

Drug Development Research, 2026

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

Jansche R et al.

Cell Death & Disease, 2026

CRISPR-based functional genomics for dissecting therapeutic dependency in primary acute myeloid leukemia samples.

Cao Z et al.

Molecular Cell, 2026

LINE-1 retrotransposition is a recurrent cause of MET exon 14 skipping in cancer.

Karlow JA et al.

Biorxiv : the Preprint Server for Biology, 2026

41757089 (PubMed )
Supplement: media-1.xlsx › Table_S1

Molecular and histopathological insights into renal neuroendocrine tumors (RenNETs): A comprehensive study.

Zhang K et al.

Pathology, Research and Practice, 2026

Lung cancer-enriched p53 mutants occupy canonical p53 target genes without activating transcription, revealing a distinct loss-of-function behavior.

Tracewell MA et al.

Biorxiv : the Preprint Server for Biology, 2026

Circulating cell-free DNA profiling reveals ancestry-dependent genetic variation in metastatic prostate cancer.

Maleknia S et al.

Molecular Biomedicine, 2026

41673362 (PubMed )
Supplement: 43556_2026_405_MOESM3_ESM.xlsx › Common.Cosmic_Mut

Utility of Next-Generation Sequencing in Renal Neoplasia, Including Tumors With Clear Cytoplasm and Rare Phenotypes (ELOC/MITF Alterations and Mismatch Repair Deficiency).

McCarthy M et al.

Mayo Clinic Proceedings, 2026

Genomic Insights into Cutaneous Squamous Cell Carcinoma.

Saglimbeni GS et al.

Cancers, 2026

Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.

Can ND et al.

Human Genomics, 2026

41656315 (PubMed )
Supplement: 40246_2026_915_MOESM2_ESM.xlsx › PVs

Precision oncology in Bulgaria: a prospective study of metastatic colorectal cancer patients.

Dimitrov G et al.

Cancer Treatment and Research Communications, 2026

Attenuated Li-Fraumeni syndrome with TP53 p.R181H in a Japanese patient with metastatic rectal adenocarcinoma: a case report.

Kasahara Y et al.

Familial Cancer, 2026

Single-cell profiling reveals reprogrammed hierarchy and disrupted immune-stromal ecosystem in TP53-mutated AML.

Qiu G et al.

Experimental Hematology & Oncology, 2026

41634865 (PubMed )
Supplement: 40164_2026_751_MOESM3_ESM.xlsx › Sheet1

Beyond somatic mutations: the role of next-generation sequencing in identifying germline predisposition in patients with acute myeloid leukemia.

Loghavi S et al.

Haematologica, 2026

Correlation between P53 immunohistochemical staining and TP53 molecular testing in endometrial carcinomas: a detailed assessment of discrepant cases with implications for patient management.

Machuca-Aguado J et al.

Histopathology, 2026

Mutant p53 Regulates Pyruvate Dehydrogenase Kinase 1 (PDK1) to Promote Proliferation and Migration in Breast Cancer.

Ye Y et al.

Cancer Science, 2026

Using the Reactome Graph Database to generate pathway fingerprints for cancer-related genes, and using the fingerprints to gain insights into cancer, comorbidity, and cancer gene networks.

Iengar P et al.

Computational Biology and Chemistry, 2026

Thyroblastoma as a manifestation of DICER1 syndrome with confirmed germline mutation and comprehensive literature review.

Yin L et al.

Virchows Archiv : an International Journal of Pathology, 2026

Etiology of TP53 mutated complex karyotype acute myeloid leukemia.

Fedenko A et al.

Leukemia, 2026

41419603 (PubMed )
Supplement: 41375_2025_2835_MOESM1_ESM.pdf

Next-Generation Sequencing-Based Detection of KRAS G12D Variants in Colorectal Cancer: A Retrospective Cohort Study.

Hekimoglu G et al.

Genes, 2026

TP53 mutation predict poor prognosis in diffuse large B-cell lymphoma: a single-center study.

Zhang H et al.

Annals of Hematology, 2026

41609884 (PubMed )
Supplement: 277_2026_6821_MOESM2_ESM.xlsx › Sheet1

Common gene mutations in 103 authenticated colorectal cancer cell lines.

Kranjec C et al.

Oncogenesis, 2026

41593049 (PubMed )
Supplement: 41389_2026_599_MOESM2_ESM.xlsx › Supplementary_Table_10

Correlation analysis of TP53 missense mutations and p53 protein expression patterns in endometrial carcinoma.

Yang Y et al.

Human Pathology, 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

ΔNp73 isoform defines a TP53-mutant-like poor-risk subgroup of acute myeloid leukemia.

Pereira-Martins DA et al.

Cell Reports. Medicine, 2026

Dual Targeting of Mutant p53 and SNRPD2 via Engineered Exosomes Modulates Alternative Splicing to Suppress Ovarian Cancer.

Zhao W et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2026

T cell receptor-engineered T cells targeting the TP53R248Q neoantigen elicit antitumor effects in human cancer models.

Shen L et al.

The Journal of Clinical Investigation, 2026

Restoration of the Y220C p53 Full-Length Mutant by PK11000: a Molecular Dynamics Study of an Intrinsically Disordered Protein.

Stetson S et al.

Acs Omega, 2026

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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."