Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.T256A
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TP53

NM_000546.6:p.T256A

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

Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53.

Fortuno C et al.

Hgg Advances, 2025

Li Fraumeni syndrome in the UK: clinical characteristics and outcomes of TP53 carriers.

Finn E et al.

Esmo Open, 2025

Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.

Funk JS et al.

Nature Genetics, 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

Duplex Sequencing Uncovers Recurrent Low-frequency Cancer-associated Mutations in Infant and Childhood KMT2A-rearranged Acute Leukemia.

Pilheden M et al.

Hemasphere, 2022

36204688 (PubMed )
Supplement: hs9-6-e785-s001.xlsx › S6_Cancer-associated_mutations

Circulating tumor DNA to guide rechallenge with panitumumab in metastatic colorectal cancer: the phase 2 CHRONOS trial.

Sartore-Bianchi A et al.

Nature Medicine, 2022

35915157 (PubMed )
Supplement: 41591_2022_1886_MOESM1_ESM.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

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_15.xlsx › Sheet1

Epithelial Mutant p53 Promotes Resistance to Anti-PD-1-Mediated Oral Cancer Immunoprevention in Carcinogen-Induced Mouse Models.

Wang J et al.

Cancers, 2021

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

Clinicopathological characterization of SMAD4-mutated intestinal adenocarcinomas: A case-control study.

Liao X et al.

Plos One, 2019

30730996 (PubMed )
Supplement: pone.0212142.s001.xlsx › SMAD4_cases

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

Genetic diagnosis of familial breast cancer using clonal sequencing.

Morgan JE et al.

Human Mutation, 2010

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.s008.xls › Table_s-6

Inactive full-length p53 mutants lacking dominant wild-type p53 inhibition highlight loss of heterozygosity as an important aspect of p53 status in human cancers.

Dearth LR et al.

Carcinogenesis, 2007

Reassessment of the TP53 mutation database in human disease by data mining with a library of TP53 missense mutations.

Soussi T et al.

Human Mutation, 2005

Isolation of temperature-sensitive p53 mutations from a comprehensive missense mutation library.

Shiraishi K et al.

The Journal of Biological Chemistry, 2004

RNA polymerase III transcription can be derepressed by oncogenes or mutations that compromise p53 function in tumours and Li-Fraumeni syndrome.

Stein T et al.

Oncogene, 2002

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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."