Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.I251T
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TP53

NM_000546.6:p.I251T

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

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

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table2.XLSX › Sheet1

A zebrafish xenotransplant model of anaplastic thyroid cancer to study the tumor microenvironment and innate immune cell interactions in vivo.

Michael C et al.

Biorxiv : the Preprint Server for Biology, 2023

CDK4 phosphorylation status and rational use for combining CDK4/6 and BRAF/MEK inhibition in advanced thyroid carcinomas.

Pita JM et al.

Frontiers in Endocrinology, 2023

37964967 (PubMed )
Supplement: Table_1.xlsx › Table_S1

Risk of ipsilateral breast tumor recurrence and contralateral breast cancer in patients with and without TP53 variant in a large series of breast cancer patients.

Guo Y et al.

Breast (edinburgh, Scotland), 2022

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1

Fecal gene detection based on next generation sequencing for colorectal cancer diagnosis.

He SY et al.

World Journal of Gastroenterology, 2022

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

Identification of relevant genetic alterations in cancer using topological data analysis.

Rabadán R et al.

Nature Communications, 2020

32732999 (PubMed )
Supplement: 41467_2020_17659_MOESM3_ESM.xls › TableS1

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.

Winter H et al.

Cancers, 2019

31795195 (PubMed )
Supplement: cancers-11-01895-s001.zip › ICC_ctDNA_Cancers_Supplementary_Table_5._50_cancer_gene_panel_information.xlsx › cms_106003

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

Mutational processes shape the landscape of TP53 mutations in human cancer.

Giacomelli AO et al.

Nature Genetics, 2018

30224644 (PubMed )
Supplement: NIHMS1501645-supplement-3.xlsx › Sheet1

Hotspot Mutations Detectable by Next-generation Sequencing in Exhaled Breath Condensates from Patients with Lung Cancer.

Youssef O et al.

Anticancer Research, 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

Low-burden TP53 mutations in chronic phase of myeloproliferative neoplasms: association with age, hydroxyurea administration, disease type and JAK2 mutational status.

Kubesova B et al.

Leukemia, 2018

28744014 (PubMed )
Supplement: leu2017230x2.xlsx › S2_validation

Profiling tumour heterogeneity through circulating tumour DNA in patients with pancreatic cancer.

Adamo P et al.

Oncotarget, 2017

29152076 (PubMed )
Supplement: oncotarget-08-87221-s005.xlsx › cfDNA___Tumour

Leiomyoma with bizarre nuclei: a morphological, immunohistochemical and molecular analysis of 31 cases.

Bennett JA et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2017

28664937 (PubMed )
Supplement: NIHMS883213-supplement-3.xlsx › Sheet1

Presence of cancer-associated mutations in exhaled breath condensates of healthy individuals by next generation sequencing.

Youssef O et al.

Oncotarget, 2017

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
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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."