Varaico: Literature-Extracted Genetic Variants

Gene:FANCG
Variant:p.L71P
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FANCG

NM_004629.2:p.L71P

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.

Yang W et al.

Journal of Translational Medicine, 2025

41444968 (PubMed )
Supplement: 12967_2025_7595_MOESM1_ESM.xlsx › Table_S1

Erratum to: Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population.

Steinberg-Shemer O et al.

Haematologica, 2025

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1

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

Identification of a Hypomorphic FANCG Variant in Bernese Mountain Dogs.

Meek K et al.

Genes, 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

Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population.

Steinberg-Shemer O et al.

Haematologica, 2020

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

Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry.

Tamary H et al.

Haematologica, 2010

HES1 is a novel interactor of the Fanconi anemia core complex.

Tremblay CS et al.

Blood, 2008

Four human FANCG polymorphic variants show normal biological function in hamster CHO cells.

Hinz JM et al.

Mutation Research, 2006

Tetratricopeptide-motif-mediated interaction of FANCG with recombination proteins XRCC3 and BRCA2.

Hussain S et al.

Dna Repair, 2006

The Fanconi anemia gene network is conserved from zebrafish to human.

Titus TA et al.

Gene, 2006

Fanconi anemia FANCG protein in mitigating radiation- and enzyme-induced DNA double-strand breaks by homologous recombination in vertebrate cells.

Yamamoto K et al.

Molecular and Cellular Biology, 2003

Fanconi anemia protein complex: mapping protein interactions in the yeast 2- and 3-hybrid systems.

Gordon SM et al.

Blood, 2003

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

Demuth I et al.

European Journal of Human Genetics : Ejhg, 2000

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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."