Varaico: Literature-Extracted Genetic Variants

Gene:SLC11A2
Variant:p.R416C
Back to variants list

SLC11A2

NM_000617.3:p.R416C

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

Marked microcytosis and increased transferrin saturation: Think about variants in SLC11A2 (DMT1).

Raynor A et al.

Blood Cells, Molecules & Diseases, 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

Molecular Mechanism of Nramp-Family Transition Metal Transport.

Bozzi AT et al.

Journal of Molecular Biology, 2021

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

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

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

Iolascon A et al.

Seminars in Hematology, 2009

Natural history of recessive inheritance of DMT1 mutations.

Iolascon A et al.

The Journal of Pediatrics, 2008

Defective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosis.

Silvestri L et al.

Blood, 2007

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

Beaumont C et al.

Blood, 2006

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

Iolascon A et al.

Blood, 2006

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."