Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.V272L
Back to variants list

HFE

NM_000410.4:p.V272L

Associated Papers

HFE gene: Structure, function, mutations, and associated iron abnormalities.

Barton JC et al.

Gene, 2015

The functional significance of E277K and V295A HFE mutations.

Silva B et al.

British Journal of Haematology, 2012

Heteroduplex analysis for the three common HFE variants: methodology, reliability and analysis of over 5000 requests for testing.

Kingston J et al.

Journal of Clinical Pathology, 2007

Of mice and men: genetic determinants of iron status.

McGregor J et al.

The Proceedings of the Nutrition Society, 2004

Complete scanning of the hereditary hemochromatosis gene (HFE) by use of denaturing HPLC.

Le Gac G et al.

Clinical Chemistry, 2001

Detection of C282Y and H63D in the HFE gene.

Pointon JJ et al.

Genetic Testing, 2000

Uncommon mutations and polymorphisms in the hemochromatosis gene.

Pointon JJ et al.

Genetic Testing, 2000

Iron storage disease in red deer (Cervus elaphus elaphus) is not associated with mutations in the HFE gene.

Olias P et al.

Journal of Comparative Pathology, 0

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."