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SLC40A1 c.1014T>A ;(p.S338R)
Variant ID: 2-190428698-A-T
NM_014585.5(
SLC40A1
):c.1014T>A;(p.S338R)
This variant was identified in 6 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: Ser338Arg
PubMed Link:
31505869
Variant Present in the following documents:
Main text
pharmaceuticals-12-00132.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: S338R
PubMed Link:
25396007
Variant Present in the following documents:
Main text
PG-9-23748.pdf
View BVdb publication page
Ceruloplasmin-ferroportin system of iron traffic in vertebrates.
World Journal Of Biological Chemistry
Musci, Giovanni G; Polticelli, Fabio F; Bonaccorsi di Patti, Maria Carmela MC
Publication Date: 2014-05-26
Variant appearance in text: SLC40A1: S338R
PubMed Link:
24921009
Variant Present in the following documents:
Main text
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: Ser338Arg
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: Ser338Arg
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: Ser338Arg
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: S338R
PubMed Link:
20691492
Variant Present in the following documents:
Main text
View BVdb publication page