SLC40A1 c.1469G>A ;(p.G490D)

Variant ID: 2-190426851-C-T

NM_014585.5(SLC40A1):c.1469G>A;(p.G490D)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


The novel SLC40A1 (T419I) variant results in a loss-of-function phenotype and may provide insights into the mechanism of large granular lymphocytic leukemia and pure red cell aplasia.

Blood Science (Baltimore, Md.)
Wu, Hongfei H; Ren, Xiang X; Ge, Meili M; Dong, Peiyuan P; Wang, Shichong S; Yi, Huiming H; Li, Xingxin X; Huo, Jiali J; Zheng, Xuan X; Gao, Mengying M; Huang, Jinbo J; Zhang, Jing J; Wang, Min M; Jin, Peng P; Nie, Neng N; Shao, Yingqi Y; Zheng, Yizhou Y
Publication Date: 2022-01

Variant appearance in text: FPN1: G490D
PubMed Link: 35399544
Variant Present in the following documents:
  • Main text
  • bls-4-29.pdf
View BVdb publication page



Response prediction and risk stratification of patients with rectal cancer after neoadjuvant therapy through an analysis of circulating tumour DNA.

Ebiomedicine
Liu, Wenyang W; Li, Yifei Y; Tang, Yuan Y; Song, Qianqian Q; Wang, Jingjing J; Li, Ning N; Chen, Silin S; Shi, Jinming J; Wang, Shulian S; Li, Yexiong Y; Jiao, Yuchen Y; Zeng, Yixin Y; Jin, Jing J
Publication Date: 2022-04

Variant appearance in text: SLC40A1: 1469G>A
PubMed Link: 35306340
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
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: Gly490Asp
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: 1469G>A
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: G490D
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: Gly490Asp
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: Gly490Asp
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: Gly490Asp
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: G490D
PubMed Link: 20827391
Variant Present in the following documents:
  • Main text
  • 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: G490D
PubMed Link: 20691492
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hereditary hemochromatosis due to resistance to hepcidin: high hepcidin concentrations in a family with C326S ferroportin mutation.

Blood
Sham, Ronald L RL; Phatak, Pradyumna D PD; Nemeth, Elizabeta E; Ganz, Tomas T
Publication Date: 2009-07-09

Variant appearance in text: SLC40A1: G490D
PubMed Link: 19589941
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigation of the biophysical and cell biological properties of ferroportin, a multipass integral membrane protein iron exporter.

Journal Of Molecular Biology
Rice, Adrian E AE; Mendez, Michael J MJ; Hokanson, Craig A CA; Rees, Douglas C DC; Björkman, Pamela J PJ
Publication Date: 2009-02-27

Variant appearance in text: IREG1: G490D
PubMed Link: 19150361
Variant Present in the following documents:
  • Main text
View BVdb publication page



SLC40A1 Q248H allele frequencies and Q248H-associated risk of non-HFE iron overload in persons of sub-Saharan African descent.

Blood Cells, Molecules & Diseases
Barton, James C JC; Acton, Ronald T RT; Lee, Pauline L PL; West, Carol C
Publication Date: 2007

Variant appearance in text: SLC40A1: G490D
PubMed Link: 17490902
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: G490D
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: G490D
PubMed Link: 16354771
Variant Present in the following documents:
  • Main text
View BVdb publication page



The molecular basis of ferroportin-linked hemochromatosis.

Proceedings Of The National Academy Of Sciences Of The United States Of America
De Domenico, Ivana I; Ward, Diane McVey DM; Nemeth, Elizabeta E; Vaughn, Michael B MB; Musci, Giovanni G; Ganz, Tomas T; Kaplan, Jerry J
Publication Date: 2005-06-21

Variant appearance in text: SLC40A1: G490D
PubMed Link: 15956209
Variant Present in the following documents:
  • Main text
View BVdb publication page