Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.C187G
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HFE

NM_000410.4:p.C187G

Associated Papers

A haemochromatosis-causing HFE mutation is associated with SARS-CoV-2 susceptibility in the Czech population.

Hubacek JA et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023

Iron-regulatory genes are associated with Neuroimaging measures in HIV infection.

Fennema-Notestine C et al.

Brain Imaging and Behavior, 2020

Higher iron stores and the HFE 187C>G variant delay onset of peripheral neuropathy during combination antiretroviral therapy.

Kallianpur AR et al.

Plos One, 2020

Hemochromatosis (HFE) Gene Variants Are Associated with Increased Mitochondrial DNA Levels During HIV-1 Infection and Antiretroviral Therapy.

Kallianpur AR et al.

Aids Research and Human Retroviruses, 2018

Serum hepcidin levels, iron status, and HFE gene alterations during the first year of life in healthy Spanish infants.

Aranda N et al.

Annals of Hematology, 2018

ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency.

Joly P et al.

Plos One, 2017

Ancestral association between HLA and HFE H63D and C282Y gene mutations from northwest Colombia.

Rodriguez LM et al.

Genetics and Molecular Biology, 2015

Association of the apolipoprotein E 2 allele with concurrent occurrence of endometrial hyperplasia and endometrial carcinoma.

Ivanova TI et al.

Oxidative Medicine and Cellular Longevity, 2015

Genetic variation in iron metabolism is associated with neuropathic pain and pain severity in HIV-infected patients on antiretroviral therapy.

Kallianpur AR et al.

Plos One, 2014

Predictors of haemoconcentration at delivery: association with low birth weight.

Aranda N et al.

European Journal of Nutrition, 2013

An association study of HFE gene mutation with idiopathic male infertility in the Chinese Han population.

Yu XY et al.

Asian Journal of Andrology, 2012

Genotyping of the hemochromatosis HFE p.H63D and p.C282Y mutations by high-resolution melting with the Rotor-Gene 6000® instrument.

Santos PC et al.

Clinical Chemistry and Laboratory Medicine, 2011

Prevalence of H63D, S65C, and C282Y hereditary hemochromatosis gene variants in Madeira Island (Portugal).

Spínola C et al.

Annals of Hematology, 2011

Effects of C282Y, H63D, and S65C HFE gene mutations, diet, and life-style factors on iron status in a general Mediterranean population from Tarragona, Spain.

Aranda N et al.

Annals of Hematology, 2010

HFE gene mutations and iron status of Brazilian blood donors.

Santos PC et al.

Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2010

Association between HFE 187 C>G (H63D) mutation and early-onset familial Alzheimer's disease PSEN-1 839A>C (E280A) mutation.

Avila-Gomez IC et al.

Annals of Hematology, 2008

A novel homozygous frameshift deletion c.471del of HFE associated with hemochromatosis.

Cukjati M et al.

Clinical Genetics, 2007

Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis.

King C et al.

Bmc Medical Genetics, 2006

Frequency of hemochromatosis gene (HFE) mutations in Russian healthy women and patients with estrogen-dependent cancers.

Kondrashova TV et al.

Biochimica Et Biophysica Acta, 2006

[Molecular basis in hereditary haemochromatosis].

Cadet E et al.

La Revue De Medecine Interne, 2005

Iron, the HFE gene, and hepatitis C.

Eisenbach C et al.

Clinics in Liver Disease, 2004

Evaluation of HFE (hemochromatosis) mutations as genetic modifiers in sporadic AD and MCI.

Berlin D et al.

Neurobiology of Aging, 2004

Prevalence of the C282Y, H63D, and S65C mutations of the HFE gene in 1,146 newborns from a region of Northern Spain.

Altes A et al.

Genetic Testing, 2004

Linked linear amplification for simultaneous analysis of the two most common hemochromatosis mutations.

Killeen AA et al.

Clinical Chemistry, 2003

Lack of evidence for the pathogenic role of iron and HFE gene mutations in Brazilian patients with nonalcoholic steatohepatitis.

Deguti MM et al.

Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2003

Haemochromatosis: understanding the mechanism of disease and implications for diagnosis and patient management following the recent cloning of novel genes involved in iron metabolism.

Fletcher LM et al.

Journal of Internal Medicine, 2002

Hemochromatosis gene in leukemia and lymphoma.

Dorak MT et al.

Leukemia & Lymphoma, 2002

A very rare association of three mutations of the HFE gene for hemochromatosis.

Menardi G et al.

Genetic Testing, 2002

Genetic testing for HFE gene mutations related to hereditary hemochromatosis.

Unknown Author

Tecnologica. Map Supplement. Blue Cross and Blue Shield Association. Medical Advisory Panel, 2001

Mutation detection using fluorescent hybridization probes and melting curve analysis.

Lyon E

Expert Review of Molecular Diagnostics, 2001

Hereditary hemochromatosis since discovery of the HFE gene.

Lyon E et al.

Clinical Chemistry, 2001

Molecular diagnosis of hereditary hemochromatosis.

Huber S et al.

Methods in Molecular Medicine, 2001

Iron overload in thalassaemias and genetic haemochromatosis.

Aguilar-Martinez P et al.

European Journal of Haematology, 2000

Rapid genotyping of hemochromatosis gene mutations on the LightCycler with fluorescent hybridization probes.

Mangasser-Stephan K et al.

Clinical Chemistry, 1999

A new polymorphism in the human HFE gene.

Höhler T et al.

Immunogenetics, 1999

Heterozygosity for the C282Y mutation in the hemochromatosis gene is associated with increased serum iron, transferrin saturation, and hemoglobin in young women: a protective role against iron deficiency?

Datz C et al.

Clinical Chemistry, 1998

Determination of gene frequencies for two common haemochromatosis mutations in the Danish population by a novel polymerase chain reaction with sequence-specific primers.

Steffensen R et al.

Tissue Antigens, 1998

Association of HFE mutations (C282Y and H63D) with iron overload in blood donors from Mexico City.

Baptista-González HA et al.

Annals of Hepatology, 0

Prevalence of H63D, S65C and C282Y mutations of the HFE gene in 1120 voluntary blood donors from Antioquia region of northwest Colombia.

Avila-Gomez IC et al.

Blood Cells, Molecules & Diseases, 0

[The polymorphism of catechol-O-methyltransferase (COMT) and hemochromatosis (HFE) genes in the radiocontaminated regions residents with different chromosome aberration frequency].

Ivanova TI et al.

Radiatsionnaia Biologiia, Radioecologiia, 0

Hemochromatosis: discovery of the HFE gene.

Bacon BR

Missouri Medicine, 0

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