Varaico: Literature-Extracted Genetic Variants

Gene:TFRC
Variant:p.S65C
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TFRC

NM_001128148.3:p.S65C

Associated Papers

HFE mutations in patients with iron overload in Santa Catarina: a cross-sectional study.

Pagliosa CM et al.

Sao Paulo Medical Journal = Revista Paulista De Medicina, 2025

HFE Mutations in Neurodegenerative Disease as a Model of Hormesis.

Marshall Moscon SL et al.

International Journal of Molecular Sciences, 2024

A Rare Case of Heterozygous C282Y Mutation Causing Hereditary Hemochromatosis With Acute Pancreatitis.

Tonna RF et al.

Cureus, 2024

H63D Homozygous Mutation: An Unusual Cause of Deranged Liver Function Test in an Elderly Patient.

Nasrullah H et al.

Cureus, 2022

Diagnosis and Treatment of Genetic HFE-Hemochromatosis: The Danish Aspect.

Milman NT et al.

Gastroenterology Research, 2019

Polycythemia in Patients With Hereditary Hemochromatosis: Real or Myth?

Asif S et al.

Journal of Clinical Medicine Research, 2019

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

The clinical management of hereditary haemochromatosis.

Pericleous M et al.

Frontline Gastroenterology, 2018

Hepatic Iron Overload following Liver Transplantation from a C282Y/H63D Compound Heterozygous Donor.

Veitsman E et al.

Case Reports in Hepatology, 2018

Genetic Testing in Liver Disease: What to Order, in Whom, and When.

Schonfeld EA et al.

Clinics in Liver Disease, 2017

Haplotype analysis of the HFE gene among populations of Northern Eurasia, in patients with metabolic disorders or stomach cancer, and in long-lived people.

Mikhailova SV et al.

Bmc Genetics, 2016

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

Barton JC et al.

Gene, 2015

Gender and plasma iron biomarkers, but not HFE gene mutations, increase the risk of colorectal cancer and polyps.

Castiella A et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2015

Exome sequencing for molecular characterization of non-HFE hereditary hemochromatosis.

Farrell CP et al.

Blood Cells, Molecules & Diseases, 2015

Diagnosis and management of hereditary hemochromatosis.

Salgia RJ et al.

Clinics in Liver Disease, 2015

HFE gene variants and iron-induced oxygen radical generation in idiopathic pulmonary fibrosis.

Sangiuolo F et al.

The European Respiratory Journal, 2015

Carriers of the Complex Allele HFE c.[187C>G;340+4T>C] Have Increased Risk of Iron Overload in São Miguel Island Population (Azores, Portugal).

Branco CC et al.

Plos One, 2015

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

Unique frequencies of HFE gene variants in Roma/Gypsies.

Gabriková D et al.

Journal of Applied Genetics, 2012

Iron overload and HFE gene mutations in Czech patients with chronic liver diseases.

Dostalikova-Cimburova M et al.

Disease Markers, 2012

Simultaneous detection of HFE C282Y, H63D and S65C mutations associated with type 1 haemochromatosis using a multiplex luminex bead assay.

Cardoso SP et al.

Tissue Antigens, 2011

Unsuspected hereditary hemochromatosis at forensic autopsy: its presentation, confirmation, and implications.

Panella M et al.

The American Journal of Forensic Medicine and Pathology, 2011

Hereditary hemochromatosis (HFE) genotypes in heart failure: relation to etiology and prognosis.

Møller DV et al.

Bmc Medical Genetics, 2010

Impact of gene patents and licensing practices on access to genetic testing for hereditary hemochromatosis.

Chandrasekharan S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010

Hemochromatosis in Italy in the last 30 years: role of genetic and acquired factors.

Fracanzani AL et al.

Hepatology (baltimore, Md.), 2010

An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study.

Tomaiuolo R et al.

Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2009

Marked iron in liver explants in the absence of major hereditary hemochromatosis gene defects: a risk factor for cardiac failure.

Fenton H et al.

Transplantation, 2009

Hereditary haemochromatosis.

Janssen MC et al.

Best Practice & Research. Clinical Gastroenterology, 2009

High prevalence of HFE gene mutations in patients with porphyria cutanea tarda in the Czech Republic.

Kratka K et al.

The British Journal of Dermatology, 2008

The HFE gene heterozygosis H63D: a cofactor for liver damage in patients with steatohepatitis? Epidemiological and clinical considerations.

Neri S et al.

Internal Medicine Journal, 2008

Frequency of mutations related to hereditary haemochromatosis in northwestern Poland.

Raszeja-Wyszomirska J et al.

Journal of Applied Genetics, 2008

Frequency of the hemochromatosis gene (HFE) 282C-->Y, 63H-->D, and 65S-->C mutations in a general Mediterranean population from Tarragona, Spain.

Aranda N et al.

Annals of Hematology, 2007

Gene symbol: SLC40A1. Disease: primary iron overload.

Zaahl MG et al.

Human Genetics, 2005

The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein.

Ka C et al.

Human Genetics, 2005

Analysis of HFE and TFR2 gene mutations in patients with acute leukemia.

Veneri D et al.

Leukemia Research, 2005

Gene symbol: SLC40A1. Disease: Primary iron overload.

Zaahl MG et al.

Human Genetics, 2005

HFE gene mutations in susceptibility to childhood leukemia: HuGE review.

Dorak MT et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2005

Non-HFE hemochromatosis: genetics, pathogenesis, and clinical management.

Nelson JE et al.

Current Gastroenterology Reports, 2005

A 6-year survey of HFE gene test for hemochromatosis diagnosis.

Mura C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2005

Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload.

Zaahl MG et al.

Human Genetics, 2004

Screening selected blood donors with biochemical iron overload for hemochromatosis: a regional experience.

De Gobbi M et al.

Haematologica, 2004

Sudden cardiac death in hereditary hemochromatosis: an underestimated cause of death?

Klintschar M et al.

International Journal of Legal Medicine, 2004

Molecular diagnosis of hereditary hemochromatosis: application of a newly-developed reverse-hybridization assay in the South African population.

Kotze MJ et al.

Clinical Genetics, 2004

Screening for hemochromatosis: patients with liver disease, families, and populations.

Galhenage SP et al.

Current Gastroenterology Reports, 2004

The role of HFE mutations on iron metabolism in beta-thalassemia carriers.

Martins R et al.

Journal of Human Genetics, 2004

Frequency of HFE H63D, S65C, and C282Y mutations in patients with iron overload and controls from Toledo, Spain.

de Diego C et al.

Genetic Testing, 2004

Identification of hemochromatosis gene polymorphisms in chronically transfused patients with sickle cell disease.

Jeng MR et al.

American Journal of Hematology, 2003

Iron overload in acute myeloid leukemia patients is not related to HFE and TFR2 gene mutations.

Veneri D et al.

Haematologica, 2003

[Polymorphism of the HFE gene associated with hereditary hemochromatosis in populations of Russia].

Mikhaĭlova SV et al.

Genetika, 2003

Analysis of HFE and TFR2 mutations in selected blood donors with biochemical parameters of iron overload.

De Gobbi M et al.

Haematologica, 2003

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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."