Varaico: Literature-Extracted Genetic Variants

Gene:FANCI
Variant:p.M525V
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FANCI

NM_001113378.2:p.M525V

Associated Papers

Molecular Characterization of Vascular Transformation of Lymph Node Sinuses via Oncomine Comprehensive Assay.

Hegazy S et al.

International Journal of Surgical Pathology, 2025

Identification of novel candidate predisposing genes in familial nonmedullary thyroid carcinoma implicating DNA damage repair pathways.

Pires C et al.

International Journal of Cancer, 2025

Prevalence of germline variants in Brazilian pancreatic carcinoma patients.

Rodrigues LM et al.

Scientific Reports, 2024

39256447 (PubMed )
Supplement: 41598_2024_71884_MOESM1_ESM.docx

Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.

Meijer TG et al.

Cancers, 2024

38398132 (PubMed )
Supplement: cancers-16-00741-s001.zip › Table_S1-2_WES_results.xlsx › Table_S1

Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.

Adamson AW et al.

Journal of Ovarian Research, 2023

37460928 (PubMed )
Supplement: 13048_2023_1234_MOESM2_ESM.xlsx › Table_S10__

Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene.

Fierheller CT et al.

Genes, 2023

RosettaDDGPrediction for high-throughput mutational scans: From stability to binding.

Sora V et al.

Protein Science : a Publication of the Protein Society, 2023

A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene.

Fierheller CT et al.

Genome Medicine, 2021

Genetic Variants and Somatic Alterations Associated with MITF-E318K Germline Mutation in Melanoma Patients.

Vergani E et al.

Genes, 2021

Pathogenic Germ Line Variants in a Patient With Severe Toxicity From Breast Radiotherapy.

Wilhite TJ et al.

Clinical Breast Cancer, 2019

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › individual

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › MultCaCa_AR

A novel molecular diagnostics platform for somatic and germline precision oncology.

Cabanillas R et al.

Molecular Genetics & Genomic Medicine, 2017

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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."