Variant ID: 6-26093144-A-C

NM_000410.3(HFE):c.848A>C;(p.Gln283Pro)

This variant was identified in 12 publications




Publications:


Detection of a rare mutation in the ferroportin gene through targeted next generation sequencing.

Blood Transfusion = Trasfusione Del Sangue
L Ferbo, PM Manzini, S Badar, N Campostrini, A Ferrarini, M Delledonne, T Francisci, V Tassi, A Valfrè, AM Dall'omo, S D'antico, D Girelli, A Roetto, M De Gobbi
Publication Date: 2016-11

Variant appearance in text: HFE: Q283P
PMID: 27177411
View BVdb publication page



Molecular basis of HFE-hemochromatosis.

Frontiers In Pharmacology
M Vujić
Publication Date: 2014

Variant appearance in text: HFE: Q283P
PMID: 24653703
View BVdb publication page



Lymphocyte subsets in alcoholic liver disease.

World Journal Of Hepatology
LC Matos, P Batista, N Monteiro, J Ribeiro, MA Cipriano, P Henriques, F Girão, A Carvalho
Publication Date: 2013-02-27

Variant appearance in text: HFE: Q283P
PMID: 23646229
View BVdb publication page



Iranian hereditary hemochromatosis patients: baseline characteristics, laboratory data and gene mutations.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
F Zamani, Z Bagheri, M Bayat, SM Fereshtehnejad, A Basi, H Najmabadi, H Ajdarkosh
Publication Date: 2012-10

Variant appearance in text: HFE: Q283P
PMID: 23018356
View BVdb publication page



Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

International Journal Of Molecular Sciences
PC Santos, JE Krieger, AC Pereira
Publication Date: 2012

Variant appearance in text: HFE: Gln283Pro
PMID: 22408404
View BVdb publication page



Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.

Haematologica
P Aguilar-Martinez, B Grandchamp, S Cunat, E Cadet, F Blanc, M Nourrit, K Lassoued, JF Schved, J Rochette
Publication Date: 2011-04

Variant appearance in text: HFE: Q283P
PMID: 21228038
View BVdb publication page



Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

American Journal Of Epidemiology
OA Panagiotou, E Evangelou, JP Ioannidis
Publication Date: 2010-10-15

Variant appearance in text: HFE: Gln283Pro
PMID: 20876667
View BVdb publication page



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

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
S Chandrasekharan, E Pitlick, C Heaney, R Cook-Deegan
Publication Date: 2010-04

Variant appearance in text: HFE: Q283P
PMID: 20393306
View BVdb publication page



Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis.

Clinics (Sao Paulo, Brazil)
PL Bittencourt, ML Marin, CA Couto, EL Cançado, FJ Carrilho, AC Goldberg
Publication Date: 2009

Variant appearance in text: HFE: Q283P
PMID: 19759876
View BVdb publication page



Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major.

Haematologica
M Andreani, FC Radio, M Testi, C De Bernardo, M Troiano, S Majore, P Bertucci, P Polchi, R Rosati, P Grammatico
Publication Date: 2009-09

Variant appearance in text: HFE: Q283P
PMID: 19734422
View BVdb publication page



Hyperferritinemia is a risk factor for steatosis in chronic liver disease.

World Journal Of Gastroenterology
A Licata, ME Nebbia, G Cabibbo, GL Iacono, F Barbaria, V Brucato, N Alessi, S Porrovecchio, V Di Marco, A Craxì, C Cammà
Publication Date: 2009-05-07

Variant appearance in text: HFE: Q283P
PMID: 19418586
View BVdb publication page



Heterozygous beta-globin gene mutations as a risk factor for iron accumulation and liver fibrosis in chronic hepatitis C.

Gut
M Sartori, S Andorno, M Pagliarulo, C Rigamonti, C Bozzola, P Pergolini, R Rolla, A Suno, R Boldorini, G Bellomo, E Albano
Publication Date: 2007-05

Variant appearance in text: HFE: Q283P
PMID: 17135308
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000309234.6 c.848A>C p.Gln283Pro missense_variant 4/6 -
ENST00000317896.7 c.572A>C p.Gln191Pro missense_variant 3/5 -
ENST00000336625.8 c.530A>C p.Gln177Pro missense_variant 3/5 -
ENST00000349999.4 c.584A>C p.Gln195Pro missense_variant 3/5 -
ENST00000352392.4 c.77-203A>C - intron_variant - 1/2
ENST00000353147.5 c.308A>C p.Gln103Pro missense_variant 2/4 -
ENST00000357618.5 c.848A>C p.Gln283Pro missense_variant 4/6 -
ENST00000397022.3 c.779A>C p.Gln260Pro missense_variant 4/6 -
ENST00000461397.1 c.806A>C p.Gln269Pro missense_variant 4/6 -
ENST00000470149.1 c.839A>C p.Gln280Pro missense_variant 5/7 -
ENST00000483782.1 n.1179A>C - non_coding_transcript_exon_variant 3/3 -
ENST00000486147.1 n.691A>C - non_coding_transcript_exon_variant 3/5 -
ENST00000488199.1 c.542A>C p.Gln181Pro missense_variant 3/5 -
NM_000410.3 c.848A>C p.Gln283Pro missense_variant 4/6 -
NM_001300749.2 c.848A>C p.Gln283Pro missense_variant 4/6 -
NM_139003.3 c.530A>C p.Gln177Pro missense_variant 3/5 -
NM_139004.3 c.572A>C p.Gln191Pro missense_variant 3/5 -
NM_139006.3 c.806A>C p.Gln269Pro missense_variant 4/6 -
NM_139007.3 c.584A>C p.Gln195Pro missense_variant 3/5 -
NM_139008.3 c.542A>C p.Gln181Pro missense_variant 3/5 -
NM_139009.3 c.779A>C p.Gln260Pro missense_variant 4/6 -
NM_139010.3 c.308A>C p.Gln103Pro missense_variant 2/4 -
NM_139011.3 c.77-203A>C - intron_variant - 1/2