Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.G51G
Back to variants list

HFE

NM_000410.4:p.G51G

Associated Papers

Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population.

Faria R et al.

Blood Cells, Molecules & Diseases, 2016

The role of genetic factors in patients with hepatocellular carcinoma and iron overload - a prospective series of 234 patients.

Funakoshi N et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2016

The hepcidin gene promoter nc.-1010C > T; -582A > G haplotype modulates serum ferritin in individuals carrying the common H63D mutation in HFE gene.

Silva B et al.

Annals of Hematology, 2014

Identification of a novel mutation in the HAMP gene that causes non-detectable hepcidin molecules in a Japanese male patient with juvenile hemochromatosis.

Hattori A et al.

Blood Cells, Molecules & Diseases, 2012

A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis.

Island ML et al.

Haematologica, 2009

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."