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.




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