SLC40A1 c.542A>T ;(p.D181V)

Variant ID: 2-190430298-T-A

NM_014585.5(SLC40A1):c.542A>T;(p.D181V)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Clinical assessment for diet prescription.

Journal Of Preventive Medicine And Hygiene
Kiani, Aysha Karim AK; Medori, Maria Chiara MC; Dhuli, Kristjana K; Donato, Kevin K; Caruso, Paola P; Fioretti, Francesco F; Perrone, Marco Alfonso MA; Ceccarini, Maria Rachele MR; Manganotti, Paolo P; Nodari, Savina S; Codini, Michela M; Beccari, Tommaso T; Bertelli, Matteo M
Publication Date: 2022-06

Variant appearance in text: rs104893672
PubMed Link: 36479490
Variant Present in the following documents:
  • Main text
  • jpmh-2022-02-e102.pdf
View BVdb publication page



Genetic test for the prescription of diets in support of physical activity.

Acta Bio-Medica : Atenei Parmensis
Naureen, Zakira Z; Miggiano, Giacinto Abele Donato GAD; Aquilanti, Barbara B; Velluti, Valeria V; Matera, Giuseppina G; Gagliardi, Lucilla L; Zulian, Alessandra A; Romanelli, Roberta R; Bertelli, Matteo M
Publication Date: 2020-11-09

Variant appearance in text: rs104893672
PubMed Link: 33170161
Variant Present in the following documents:
  • Main text
  • ACTA-91-11.pdf
View BVdb publication page



Reduced iron export associated with hepcidin resistance can explain the iron overload spectrum in ferroportin disease.

Liver International : Official Journal Of The International Association For The Study Of The Liver
Viveiros, André A; Panzer, Marlene M; Baumgartner, Nadja N; Schaefer, Benedikt B; Finkenstedt, Armin A; Henninger, Benjamin B; Theurl, Igor I; Nachbaur, Karin K; Weiss, Günter G; Haubner, Roland R; Decristoforo, Clemens C; Tilg, Herbert H; Zoller, Heinz H
Publication Date: 2020-08

Variant appearance in text: SLC40A1: D181V
PubMed Link: 32450003
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evidence for dimerization of ferroportin in a human hepatic cell line using proximity ligation assays.

Bioscience Reports
Rishi, Gautam G; Secondes, Eriza S ES; Wallace, Daniel F DF; Subramaniam, V Nathan VN
Publication Date: 2020-05-29

Variant appearance in text: SLC40A1: D181V
PubMed Link: 32301493
Variant Present in the following documents:
  • bsr-40-bsr20191499.pdf
View BVdb publication page



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: Asp181Val
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: 542A>T
PubMed Link: 29101207
Variant Present in the following documents:
  • 1021972.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: D181V
PubMed Link: 28930842
Variant Present in the following documents:
  • Main text
  • medi-96-e8064.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: SLC40A1: D181V
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
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: Asp181Val
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 PCJL; Krieger, Jose E JE; Pereira, Alexandre C AC
Publication Date: 2012

Variant appearance in text: SLC40A1: Asp181Val
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 PC; Krieger, Jose E JE; Pereira, Alexandre C AC
Publication Date: 2012

Variant appearance in text: SLC40A1: Asp181Val
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: D181V
PubMed Link: 20691492
Variant Present in the following documents:
  • Main text
View BVdb publication page