SLC40A1 c.263G>C ;(p.R88T)

Variant ID: 2-190439895-C-G

NM_014585.5(SLC40A1):c.263G>C;(p.R88T)

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: Arg88Thr
PubMed Link: 31505869
Variant Present in the following documents:
  • Main text
  • pharmaceuticals-12-00132.pdf
View BVdb publication page



Ferroportin disease: pathogenesis, diagnosis and treatment.

Haematologica
Pietrangelo, Antonello A
Publication Date: 2017-12

Variant appearance in text: SLC40A1: 263G>C
PubMed Link: 29101207
Variant Present in the following documents:
  • 1021972.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: Arg88Thr
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: Arg88Thr
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: Arg88Thr
PubMed Link: 22408404
Variant Present in the following documents:
  • Main text
  • ijms-13-01497.pdf
View BVdb publication page