Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.A119V
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TP53

NM_000546.6:p.A119V

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

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

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

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

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

Assessment of genome mutation analysis for tumor-informed detection of circulating tumor DNA in patients with breast cancer.

Wahab MRA et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

Epigenetic MLH1 silencing concurs with mismatch repair deficiency in sporadic, naturally occurring colorectal cancer in rhesus macaques.

Deycmar S et al.

Journal of Translational Medicine, 2024

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

Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.

Klonowska K et al.

The Journal of Clinical Investigation, 2022

35358092 (PubMed )
Supplement: jci-132-155858-s188.xlsx › Supplemental_Table_5.2.

Genomic evidence suggests that cutaneous neuroendocrine carcinomas can arise from squamous dysplastic precursors.

Harms PW et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

34593967 (PubMed )
Supplement: NIHMS1739265-supplement-Supplemental_Tables.xlsx › S4-focused

Immune pathways and TP53 missense mutations are associated with longer survival in canine osteosarcoma.

Das S et al.

Communications Biology, 2021

34635775 (PubMed )
Supplement: 42003_2021_2683_MOESM4_ESM.xlsx › S_Data_3

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_gnomAD

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

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

Analysis of the genomic landscape of multiple myeloma highlights novel prognostic markers and disease subgroups.

Bolli N et al.

Leukemia, 2018

29789651 (PubMed )
Supplement: 41375_2018_37_MOESM18_ESM.xlsx › Supplementary_Table_S5.txt

Elucidating therapeutic molecular targets in premenopausal Asian women with recurrent breast cancers.

Yap YS et al.

Npj Breast Cancer, 2018

30062102 (PubMed )
Supplement: 41523_2018_70_MOESM1_ESM.xlsx › Suppl_Table_S1_SNVs

p53 transactivation and the impact of mutations, cofactors and small molecules using a simplified yeast-based screening system.

Andreotti V et al.

Plos One, 2011

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

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