Variant: rs137853119 

    present in Gene: TMPRSS6
    present in Chromosome: 22
    Position on Chromosome: 37075180
    Alleles of this Variant: C/T

rs137853119 in TMPRSS6 gene and Iron-Refractory Iron Deficiency Anemia PMID 21618415 2012 A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia.

PMID 20704562 2010 A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA.

PMID 25588876 2015 Functional analysis of matriptase-2 mutations and domains: insights into the molecular basis of iron-refractory iron deficiency anemia.

PMID 20232450 2010 Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA).

PMID 22581667 2012 Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity.

PMID 25156943 2014 Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies.

PMID 18408718 2008 Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA).

PMID 19357398 2009 Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia.

PMID 19592582 2009 Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms.

PMID 19747362 2009 A novel splice site mutation c.2278 (-1) G>C in the TMPRSS6 gene causes deletion of the substrate binding site of the serine protease resulting in refractory iron deficiency anaemia.

PMID 18603562 2008 A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron.

PMID 19708871 2009 Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia.