Varaico: Literature-Extracted Genetic Variants

Gene:FANCI
Variant:p.P55L
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FANCI

NM_001113378.2:p.P55L

Associated Papers

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table2.xls › Sheet1

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

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM14_ESM.xlsx › S14

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

The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature.

Thompson AS et al.

Molecular Genetics & Genomic Medicine, 2021

33960719 (PubMed )
Supplement: MGG3-9-e1693-s005.docx

Mutation Spectrum of Cancer-Associated Genes in Patients With Early Onset of Colorectal Cancer.

Zhunussova G et al.

Frontiers in Oncology, 2019

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Soukupova J et al.

Plos One, 2018

29649263 (PubMed )
Supplement: pone.0195761.s005.xlsx › S5

The Fanconi anemia ID2 complex: dueling saxes at the crossroads.

Boisvert RA et al.

Cell Cycle (georgetown, Tex.), 2014

Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Haiman CA et al.

Plos Genetics, 2013

Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition.

García MJ et al.

Carcinogenesis, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII

Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair.

Smogorzewska A et al.

Cell, 2007

Identification of the Fanconi anemia complementation group I gene, FANCI.

Dorsman JC et al.

Cellular Oncology : the Official Journal of the International Society for Cellular Oncology, 2007

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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."