Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.L14Q
Back to variants list

TP53

NM_000546.6:p.L14Q

Associated Papers

Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome.

Montellier E et al.

Ebiomedicine, 2026

41370968 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Analysis of Concurrent Intracholecystic Papillary Neoplasms and Biliary Intraepithelial Neoplasia Reveals Distinct Histologic and Molecular Profiles.

Malik P et al.

Archives of Pathology & Laboratory Medicine, 2025

A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.

Fortuno C et al.

Genome Medicine, 2025

41126324 (PubMed )
Supplement: 13073_2025_1536_MOESM2_ESM.xlsx › Table_S2

A structurally informed human protein-protein interactome reveals proteome-wide perturbations caused by disease mutations.

Xiong D et al.

Nature Biotechnology, 2025

High-Frequency Mutations in TP53, AXIN1, CTNNB1, and KRAS, and Polymorphisms in JAK1 Genes Among Mongolian HCC Patients.

Bold N et al.

Cancer Reports (hoboken, N.j.), 2025

40344393 (PubMed )
Supplement: CNR2-8-e70227-s001.xlsx › Sample_Information

Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome.

Montellier E et al.

Iscience, 2024

39634561 (PubMed )
Supplement: mmc2.xlsx › TableS1

Recurrent adamantinomatous craniopharyngiomas show MAPK pathway activation, clonal evolution and rare TP53-loss-mediated malignant progression.

Apps JR et al.

Acta Neuropathologica Communications, 2024

39127699 (PubMed )
Supplement: 40478_2024_1838_MOESM9_ESM.xlsx › Sheet1

Pharmacogenomic profiling of intra-tumor heterogeneity using a large organoid biobank of liver cancer.

Yang H et al.

Cancer Cell, 2024

Clinical significance of genetic profiling based on different anatomic sites in patients with mucosal melanoma who received or did not receive immune checkpoint inhibitors.

Wang HY et al.

Cancer Cell International, 2023

37649078 (PubMed )
Supplement: 12935_2023_3032_MOESM2_ESM.pdf

Different impacts of TP53 mutations on cell cycle-related gene expression among cancer types.

Sasaki K et al.

Scientific Reports, 2023

36964217 (PubMed )
Supplement: 41598_2023_32092_MOESM1_ESM.xlsx › Suppl._table_S1

Somatic targeted mutation profiling of colorectal cancer precursor lesions.

Dos Santos W et al.

Bmc Medical Genomics, 2022

35761395 (PubMed )
Supplement: 12920_2022_1294_MOESM5_ESM.xlsx › Table_S2

Cell Painting predicts impact of lung cancer variants.

Caicedo JC et al.

Molecular Biology of the Cell, 2022

TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.

Ben-Cohen G et al.

Briefings in Bioinformatics, 2022

35043155 (PubMed )
Supplement: supplementary_table_s1_bbab524.xlsx › S1B._Negative_Set

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 › PIK3CA

WT1-Mutant Wilms Tumor Progression Is Associated With Diverting Clonal Mutations of CTNNB1.

Duhme C et al.

Journal of Pediatric Hematology/oncology, 2021

Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Popp B et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

32612247 (PubMed )
Supplement: 41379_2020_596_MOESM2_ESM.xlsx › FH_BRAVO

Highly multiplexed quantifications of 299 somatic mutations in colorectal cancer patients by automated MALDI-TOF mass spectrometry.

Xu C et al.

Bmc Medical Genomics, 2020

33008377 (PubMed )
Supplement: 12920_2020_804_MOESM1_ESM.xls › SuppTable1

Genetic Engineering of Zebrafish in Cancer Research.

Raby L et al.

Cancers, 2020

Identification of a Structural Determinant for Selective Targeting of HDMX.

Ben-Nun Y et al.

Structure (london, England : 1993), 2020

A novel hotspot and rare somatic mutation p.A138V, at TP53 is associated with poor survival of pancreatic ductal and periampullary adenocarcinoma patients.

Saha G et al.

Molecular Medicine (cambridge, Mass.), 2020

32552660 (PubMed )
Supplement: 10020_2020_183_MOESM8_ESM.xlsx › Sheet1

Clinical Multigene Panel Sequencing Identifies Distinct Mutational Association Patterns in Metastatic Colorectal Cancer.

Belardinilli F et al.

Frontiers in Oncology, 2020

32457828 (PubMed )
Supplement: Table_1.xlsx › Table_S1

Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets.

Newell F et al.

Nature Communications, 2019

Preoperative next-generation sequencing of pancreatic cyst fluid is highly accurate in cyst classification and detection of advanced neoplasia.

Singhi AD et al.

Gut, 2018

28970292 (PubMed )
Supplement: gutjnl-2016-313586supp002.pdf

Nuclear β-catenin localization and mutation of the CTNNB1 gene: a context-dependent association.

Kim G et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018

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

Giacomelli AO et al.

Nature Genetics, 2018

30224644 (PubMed )
Supplement: NIHMS1501645-supplement-4.xlsx › Giacomelli_et_al_New_Supplement

Molecular Scoring of Hepatocellular Carcinoma for Predicting Metastatic Recurrence and Requirements of Systemic Chemotherapy.

Nishida N et al.

Cancers, 2018

30274313 (PubMed )
Supplement: cancers-10-00367-s001.zip › Supplementary_Table_S5.xlsx › Supplementary_Table_7.xls

Exome Sequencing of Fresh-frozen or Formalin-fixed Paraffin-embedded B6C3F1/N Mouse Hepatocellular Carcinomas Arising Either Spontaneously or due to Chronic Chemical Exposure.

Auerbach SS et al.

Toxicologic Pathology, 2018

A novel tissue-based ß-catenin gene and immunohistochemical analysis to exclude familial adenomatous polyposis among children with hepatoblastoma tumors.

Dubbink HJ et al.

Pediatric Blood & Cancer, 2018

The landscape of somatic mutations in Indonesian cervical cancer is predominated by the PI3K pathway.

Spaans VM et al.

Gynecologic Oncology, 2018

β-Catenin in desmoid-type fibromatosis: deep insights into the role of T41A and S45F mutations on protein structure and gene expression.

Colombo C et al.

Molecular Oncology, 2017

28627792 (PubMed )
Supplement: MOL2-11-1495-s003.docx

Overexpression of MUC1 and Genomic Alterations in Its Network Associate with Prostate Cancer Progression.

Lin X et al.

Neoplasia (new York, N.y.), 2017

Mutational heterogeneity in non-serous ovarian cancers.

Teer JK et al.

Scientific Reports, 2017

28852190 (PubMed )
Supplement: 41598_2017_10432_MOESM2_ESM.xlsx › Supp_Table_6

RET Aberrations in Diverse Cancers: Next-Generation Sequencing of 4,871 Patients.

Kato S et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

27683183 (PubMed )
Supplement: 10780432ccr161679-sup-168576_1_supp_3636667_wcc1ns.docx

The Transactivation Domains of the p53 Protein.

Raj N et al.

Cold Spring Harbor Perspectives in Medicine, 2017

NRAS germline variant G138R and multiple rare somatic mutations on APC in colorectal cancer patients in Taiwan by next generation sequencing.

Chang PY et al.

Oncotarget, 2016

Mutation spectrum of hepatocellular carcinoma from eastern-European patients betrays the impact of a complex exposome.

Tanase AM et al.

Journal of Exposure Science & Environmental Epidemiology, 2015

Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets.

Schulze K et al.

Nature Genetics, 2015

25822088 (PubMed )
Supplement: NIHMS62359-supplement-3.pdf

BAP1, PBRM1 and SETD2 in clear-cell renal cell carcinoma: molecular diagnostics and possible targets for personalized therapies.

Piva F et al.

Expert Review of Molecular Diagnostics, 2015

Precise Classification of Cervical Carcinomas Combined with Somatic Mutation Profiling Contributes to Predicting Disease Outcome.

Spaans VM et al.

Plos One, 2015

Systematic analysis of somatic mutations in phosphorylation signaling predicts novel cancer drivers.

Reimand J et al.

Molecular Systems Biology, 2013

SnoN activates p53 directly to regulate aging and tumorigenesis.

Pan D et al.

Aging Cell, 2012

Implementing multiplexed genotyping of non-small-cell lung cancers into routine clinical practice.

Sequist LV et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2011

Cytoplasmic localized ubiquitin ligase cullin 7 binds to p53 and promotes cell growth by antagonizing p53 function.

Andrews P et al.

Oncogene, 2006

Nitric oxide induces phosphorylation of p53 and impairs nuclear export.

Schneiderhan N et al.

Oncogene, 2003

Distinct sets of gene alterations in endometrial carcinoma implicate alternate modes of tumorigenesis.

Koul A et al.

Cancer, 2002

Activation of p53 or loss of the Cockayne syndrome group B repair protein causes metaphase fragility of human U1, U2, and 5S genes.

Yu A et al.

Molecular Cell, 2000

1–50 of 54 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."