SLC40A1 c.1467A>T ;(p.R489S)

Variant ID: 2-190426853-T-A

NM_014585.5(SLC40A1):c.1467A>T;(p.R489S)

This variant was identified in 4 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: Arg489Ser
PubMed Link: 31505869
Variant Present in the following documents:
  • Main text
  • pharmaceuticals-12-00132.pdf
View BVdb publication page



A 10-year Follow-up Study of a Japanese Family with Ferroportin Disease A: Mild Iron Overload with Mild Hyperferritinemia Co-occurring with Hyperhepcidinemia May Be Benign.

Internal Medicine (Tokyo, Japan)
Hayashi, Hisao H; Yano, Motoyoshi M; Urawa, Naohito N; Mizutani, Akane A; Hamaoka, Shima S; Araki, Jun J; Kojima, Yuji Y; Naito, Yutaka Y; Kato, Ayako A; Tatsumi, Yasuaki Y; Kato, Koichi K
Publication Date: 2018-10-01

Variant appearance in text: SLC40A1: R489S
PubMed Link: 29780118
Variant Present in the following documents:
  • Main text
  • 1349-7235-57-2865.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: Arg489Ser
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: Arg489Ser
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: Arg489Ser
PubMed Link: 22408404
Variant Present in the following documents:
  • Main text
  • ijms-13-01497.pdf
View BVdb publication page