SLC40A1 c.968G>T ;(p.G323V)

Variant ID: 2-190428744-C-A

NM_014585.5(SLC40A1):c.968G>T;(p.G323V)

This variant was identified in 10 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: rs104893671
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: rs104893671
PubMed Link: 33170161
Variant Present in the following documents:
  • Main text
  • ACTA-91-11.pdf
View BVdb publication page



Ferroportin disease: pathogenesis, diagnosis and treatment.

Haematologica
Pietrangelo, Antonello A
Publication Date: 2017-12

Variant appearance in text: SLC40A1: 968G>T
PubMed Link: 29101207
Variant Present in the following documents:
  • 1021972.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: G323V
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: Gly323Val
PubMed Link: 23049448
Variant Present in the following documents:
  • Main text
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: Gly323Val
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: Gly323Val
PubMed Link: 22408404
Variant Present in the following documents:
  • Main text
  • ijms-13-01497.pdf
View BVdb publication page



Ferroportin and erythroid cells: an update.

Advances In Hematology
Cianetti, Luciano L; Gabbianelli, Marco M; Sposi, Nadia Maria NM
Publication Date: 2010

Variant appearance in text: FPN1: G323V
PubMed Link: 20827391
Variant Present in the following documents:
  • AH2010-404173.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: G323V
PubMed Link: 20691492
Variant Present in the following documents:
  • Main text
View BVdb publication page



Wild-type and mutant ferroportins do not form oligomers in transfected cells.

The Biochemical Journal
Gonçalves, Ana Sofia AS; Muzeau, Françoise F; Blaybel, Rand R; Hetet, Gilles G; Driss, Fathi F; Delaby, Constance C; Canonne-Hergaux, François F; Beaumont, Carole C
Publication Date: 2006-06-01

Variant appearance in text: MTP1: G323V
PubMed Link: 16457665
Variant Present in the following documents:
  • Main text
View BVdb publication page



Iron imports. III. Transfer of iron from the mucosa into circulation.

American Journal Of Physiology. Gastrointestinal And Liver Physiology
Wessling-Resnick, Marianne M
Publication Date: 2006-01

Variant appearance in text: SLC11A3: G323V
PubMed Link: 16354771
Variant Present in the following documents:
  • Main text
View BVdb publication page