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SLC40A1 c.546G>C ;(p.Q182H)
Variant ID: 2-190430294-C-G
NM_014585.5(
SLC40A1
):c.546G>C;(p.Q182H)
This variant was identified in 9 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features.
Pharmaceuticals (Basel, Switzerland)
Vlasveld, L Tom LT; Janssen, Roel R; Bardou-Jacquet, Edouard E; Venselaar, Hanka H; Hamdi-Roze, Houda H; Drakesmith, Hal H; Swinkels, Dorine W DW
Publication Date: 2019-09-09
Variant appearance in text: FPN1: Gln182His
PubMed Link:
31505869
Variant Present in the following documents:
Main text
pharmaceuticals-12-00132.pdf
View BVdb publication page
Type 4B hereditary hemochromatosis associated with a novel mutation in the SLC40A1 gene: A case report and a review of the literature.
Medicine
Zhang, Wei W; Lv, Tingxia T; Huang, Jian J; Ou, Xiaojuan X
Publication Date: 2017-09
Variant appearance in text: SLC40A1: Q182H
PubMed Link:
28930842
Variant Present in the following documents:
Main text
medi-96-e8064.pdf
View BVdb publication page
Ferroportin-related haemochromatosis associated with novel Y64H mutation of the SCL40A1 gene.
Przeglad Gastroenterologiczny
Raszeja-Wyszomirska, Joanna J; Caleffi, Angela A; Milkiewicz, Piotr P; Pietrangelo, Antonello A
Publication Date: 2014
Variant appearance in text: SLC40A1: Q182H
PubMed Link:
25396007
Variant Present in the following documents:
Main text
PG-9-23748.pdf
View BVdb publication page
Non-HFE hemochromatosis.
Revista Brasileira De Hematologia E Hemoterapia
Santos, Paulo Caleb Júnior de Lima PC; Dinardo, Carla Luana CL; Cançado, Rodolfo Delfini RD; Schettert, Isolmar Tadeu IT; Krieger, José Eduardo JE; Pereira, Alexandre Costa AC
Publication Date: 2012
Variant appearance in text: SLC40A1: Gln182His
PubMed Link:
23049448
Variant Present in the following documents:
Main text
rbhh-34-311.pdf
View BVdb publication page
Molecular diagnostic and pathogenesis of hereditary hemochromatosis.
International Journal Of Molecular Sciences
Santos, Paulo C J L PC; Krieger, Jose E JE; Pereira, Alexandre C AC
Publication Date: 2012
Variant appearance in text: SLC40A1: Gln182His
PubMed Link:
22408404
Variant Present in the following documents:
Main text
ijms-13-01497.pdf
View BVdb publication page
Molecular diagnostic and pathogenesis of hereditary hemochromatosis.
International Journal Of Molecular Sciences
Santos, Paulo C J L PCJL; Krieger, Jose E JE; Pereira, Alexandre C AC
Publication Date: 2012
Variant appearance in text: SLC40A1: Gln182His
PubMed Link:
22408404
Variant Present in the following documents:
Main text
ijms-13-01497.pdf
View BVdb publication page
Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.
Journal Of Hepatology
Mayr, Roman R; Janecke, Andreas R AR; Schranz, Melanie M; Griffiths, William J H WJ; Vogel, Wolfgang W; Pietrangelo, Antonello A; Zoller, Heinz H
Publication Date: 2010-11
Variant appearance in text: SLC40A1: Q182H
PubMed Link:
20691492
Variant Present in the following documents:
Main text
View BVdb publication page
Investigation of the biophysical and cell biological properties of ferroportin, a multipass integral membrane protein iron exporter.
Journal Of Molecular Biology
Rice, Adrian E AE; Mendez, Michael J MJ; Hokanson, Craig A CA; Rees, Douglas C DC; Björkman, Pamela J PJ
Publication Date: 2009-02-27
Variant appearance in text: IREG1: Q182H
PubMed Link:
19150361
Variant Present in the following documents:
Main text
View BVdb publication page
Iron imports. III. Transfer of iron from the mucosa into circulation.
American Journal Of Physiology. Gastrointestinal And Liver Physiology
Wessling-Resnick, Marianne M
Publication Date: 2006-01
Variant appearance in text: SLC11A3: Q182H
PubMed Link:
16354771
Variant Present in the following documents:
Main text
View BVdb publication page
The molecular basis of ferroportin-linked hemochromatosis.
Proceedings Of The National Academy Of Sciences Of The United States Of America
De Domenico, Ivana I; Ward, Diane McVey DM; Nemeth, Elizabeta E; Vaughn, Michael B MB; Musci, Giovanni G; Ganz, Tomas T; Kaplan, Jerry J
Publication Date: 2005-06-21
Variant appearance in text: SLC40A1: Q182H
PubMed Link:
15956209
Variant Present in the following documents:
Main text
View BVdb publication page