Varaico: Literature-Extracted Genetic Variants

Gene:FANCG
Variant:p.E105*
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FANCG

NM_004629.2:p.E105*

Associated Papers

Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.

Bates BA et al.

Hgg Advances, 2025

39799398 (PubMed )
Supplement: mmc2.xlsx › variantCounts

Incidental germline findings during comprehensive genomic profiling of pancreatic and colorectal cancer: single-centre, molecular tumour board experience.

Eid M et al.

Mutagenesis, 2025

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Laurie S et al.

Nature Medicine, 2025

39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing

A comprehensive study evaluating germline FANCG variants in predisposition to breast and ovarian cancer.

Soukupova J et al.

Cancer Medicine, 2024

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma.

Horackova K et al.

Cancers, 2022

The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.

Yang Y et al.

Bmc Urology, 2022

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1

Fanconi Anemia Patients from an Indigenous Community in Mexico Carry a New Founder Pathogenic Variant in FANCG.

Reyes P et al.

International Journal of Molecular Sciences, 2022

A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects.

George M et al.

Human Mutation, 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

Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.

Song H et al.

Journal of Medical Genetics, 2021

32546565 (PubMed )
Supplement: jmedgenet-2019-106739supp001.xlsx › Supp._Table_3

Common germline-somatic variant interactions in advanced urothelial cancer.

Vosoughi A et al.

Nature Communications, 2020

33273457 (PubMed )
Supplement: 41467_2020_19971_MOESM6_ESM.xlsx › Suppl._Data_4

Screening for mutations in two exons of FANCG gene in Pakistani population.

Aymun U et al.

Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia, 2017

Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing.

Gille JJ et al.

Anemia, 2012

Targeting Fanconi anemia/BRCA2 pathway defects in cancer: the significance of preclinical pharmacogenomic models.

Gallmeier E et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2007

Two common founder mutations of the fanconi anemia group G gene FANCG/XRCC9 in the Japanese population.

Yagasaki H et al.

Human Mutation, 2003

Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study.

Auerbach AD et al.

Human Mutation, 2003

Functional analysis of patient-derived mutations in the Fanconi anemia gene, FANCG/XRCC9.

Nakanishi K et al.

Experimental Hematology, 2001

The emerging genetic and molecular basis of Fanconi anaemia.

Joenje H et al.

Nature Reviews. Genetics, 2001

The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG.

de Winter JP et al.

Human Molecular Genetics, 2000

Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9.

Demuth I et al.

European Journal of Human Genetics : Ejhg, 2000

A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA.

Waisfisz Q et al.

Proceedings of the National Academy of Sciences of the United States of America, 1999

The Fanconi anaemia group G gene FANCG is identical with XRCC9.

de Winter JP et al.

Nature Genetics, 1998

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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."