Varaico: Literature-Extracted Genetic Variants

Gene:SLC11A2
Variant:p.E399D
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SLC11A2

NM_000617.3:p.E399D

Associated Papers

The solute carrier family 11 transporters: a bridge between iron homeostasis and tumor biology.

Banerjee R et al.

Cell Communication and Signaling : Ccs, 2025

DOES SLC11A2 GENE MUTATION ASSOCIATE WITH IRON-REFRACTORY IRON-DEFICIENCY ANEMIA AFTER BARIATRIC SURGERY?

Piatto VB et al.

Arquivos Brasileiros De Cirurgia Digestiva : Abcd = Brazilian Archives of Digestive Surgery, 2022

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

Identification and characterization of the first SLC11A2 isoform 1a mutation causing a defect in splicing process and an hypomorphic allele expression of the SLC11A2 gene.

De Falco L et al.

British Journal of Haematology, 2012

Erythropoietin-driven signaling ameliorates the survival defect of DMT1-mutant erythroid progenitors and erythroblasts.

Horvathova M et al.

Haematologica, 2012

H(+)-coupled divalent metal-ion transporter-1: functional properties, physiological roles and therapeutics.

Shawki A et al.

Current Topics in Membranes, 2012

Genotype and allele frequencies of divalent metal transporter 1 polymorphism in Turkish population.

Kayaalti Z et al.

Molecular Biology Reports, 2011

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

Mutations in the gene encoding DMT1: clinical presentation and treatment.

Iolascon A et al.

Seminars in Hematology, 2009

Site-directed mutagenesis investigation of coupling properties of metal ion transport by DCT1.

Nevo Y

Biochimica Et Biophysica Acta, 2008

Natural history of recessive inheritance of DMT1 mutations.

Iolascon A et al.

The Journal of Pediatrics, 2008

Molecular genetic studies of DMT1 on 12q in French-Canadian restless legs syndrome patients and families.

Xiong L et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2007

DMT1 mutation: response of anemia to darbepoetin administration and implications for iron homeostasis.

Pospisilova D et al.

Blood, 2006

Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload.

Beaumont C et al.

Blood, 2006

Distinct targeting and recycling properties of two isoforms of the iron transporter DMT1 (NRAMP2, Slc11A2).

Lam-Yuk-Tseung S et al.

Biochemistry, 2006

Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2).

Iolascon A et al.

Blood, 2006

Functional consequences of the human DMT1 (SLC11A2) mutation on protein expression and iron uptake.

Priwitzerova M et al.

Blood, 2005

Analysis of the E399D mutation in SLC11A2.

Gunshin H et al.

Blood, 2005

Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload.

Mims MP et al.

Blood, 2005

A novel R416C mutation in human DMT1 (SLC11A2) displays pleiotropic effects on function and causes microcytic anemia and hepatic iron overload.

Lam-Yuk-Tseung S et al.

Blood Cells, Molecules & Diseases, 0

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