Varaico: Literature-Extracted Genetic Variants

Gene:FANCG
Variant:p.G546R
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FANCG

NM_004629.2:p.G546R

Associated Papers

Re-definition and supporting evidence toward Fanconi Anemia as a mitochondrial disease: Prospects for new design in clinical management.

Pagano G et al.

Redox Biology, 2021

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

Several tetratricopeptide repeat (TPR) motifs of FANCG are required for assembly of the BRCA2/D1-D2-G-X3 complex, FANCD2 monoubiquitylation and phleomycin resistance.

Wilson JB et al.

Mutation Research, 2010

Defective mitochondrial peroxiredoxin-3 results in sensitivity to oxidative stress in Fanconi anemia.

Mukhopadhyay SS et al.

The Journal of Cell Biology, 2006

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

Hussain S et al.

Dna Repair, 2006

Direct interaction of the Fanconi anaemia protein FANCG with BRCA2/FANCD1.

Hussain S et al.

Human Molecular Genetics, 2003

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

Gordon SM et al.

Blood, 2003

Evolutionary clues to the molecular function of fanconi anemia genes.

Blom E et al.

Acta Haematologica, 2002

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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."