Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.Q331_I332Splc
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TP53

NM_000546.6:p.Q331_I332Splc

Associated Papers

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

Hekimoglu G et al.

Genes, 2026

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_MOESM1_ESM.xlsx › Table_S1

Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.

Fortuno C et al.

Human Genomics, 2025

39780207 (PubMed )
Supplement: 40246_2024_714_MOESM4_ESM.xlsx › Supplementary_Table_1

An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.

Szafron LA et al.

International Journal of Molecular Sciences, 2024

39456660 (PubMed )
Supplement: ijms-25-10876-s001.zip › Supplement-variants.xlsx › 44.genes.SNP_all_variants

Utility of Circulating Tumor DNA Assay in Identifying Mutations and Guiding Matched Targeted Therapy in Lung Cancers.

Li K et al.

Clinical Medicine Insights. Oncology, 2024

39429681 (PubMed )
Supplement: sj-xlsx-9-onc-10.1177_11795549241285238.xlsx › Sheet1

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2b._All_genes

Duplication of AKT2 Gene in Ovarian Cancer: A Potentially Novel Mechanism for Tumor-Induced Hypoglycemia.

Alkaissi HR et al.

Cureus, 2022

Comparative Genomic Analysis Reveals Genetic Variations in Multiple Primary Esophageal Squamous Cell Carcinoma of Chinese Population.

Liang J et al.

Frontiers in Oncology, 2022

35515115 (PubMed )
Supplement: Table_3.xlsx › Sheet_1

Characterization of frequently mutated cancer genes in Chinese breast tumors: a comparison of Chinese and TCGA cohorts.

Zhang G et al.

Annals of Translational Medicine, 2019

Landscape of somatic mutations in 560 breast cancer whole-genome sequences.

Nik-Zainal S et al.

Nature, 2016

27135926 (PubMed )
Supplement: NIHMS68344-supplement-Supplementary_Tables_1-21.zip › nature17676-s3 › Supplementary_Table_14.Driver.Events.By.Mutation.Type.01052015.v2.xlsx › Subs.indels

The dark matter of the cancer genome: aberrations in regulatory elements, untranslated regions, splice sites, non-coding RNA and synonymous mutations.

Diederichs S et al.

Embo Molecular Medicine, 2016

26992833 (PubMed )
Supplement: EMMM-8-442-s002.docx

Establishment and Characterization of 10 Human Pancreatic Cancer Cell Lines Including a HER2 Overexpressed Cell Line.

Kim SC et al.

Pancreas, 0

31688591 (PubMed )
Supplement: mpa-48-1285-s001.pdf

Surgical Treatment of Craniofacial Fibrous Dysplasia With TP53 Gene Mutation.

Chen L et al.

The Journal of Craniofacial Surgery, 0

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