Variant: rs34557412 

    present in Gene: TNFRSF13B
    present in Chromosome: 17
    Position on Chromosome: 16948873
    Alleles of this Variant: A/G

rs34557412 in TNFRSF13B gene and IMMUNODEFICIENCY, COMMON VARIABLE, 2 PMID 19779048 2009 Role of TNFRSF13B variants in patients with common variable immunodeficiency.

PMID 21419480 2011 Functional analysis of transmembrane activator and calcium-modulating cyclophilin ligand interactor (TACI) mutations associated with common variable immunodeficiency.

PMID 17392797 2007 Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency.

PMID 16007086 2005 TACI is mutant in common variable immunodeficiency and IgA deficiency.

PMID 22697072 2012 The impact of TACI mutations: from hypogammaglobulinemia in infancy to autoimmunity in adulthood.

PMID 24051380 2013 CVID-associated TACI mutations affect autoreactive B cell selection and activation.

PMID 21458042 2011 The C76R transmembrane activator and calcium modulator cyclophilin ligand interactor mutation disrupts antibody production and B-cell homeostasis in heterozygous and homozygous mice.

PMID 23237420 2013 TACI mutations and impaired B-cell function in subjects with CVID and healthy heterozygotes.

PMID 20889194 2010 The C104R mutant impairs the function of transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI) through haploinsufficiency.

PMID 27123465 2016 Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes.

PMID 22884984 2012 Sequence variants of the TNFRSF13B gene in Czech CVID and IgAD patients in the context of other populations.

PMID 22983507 2013 Clinical variability of family members with the C104R mutation in transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI).

PMID 16007087 2005 Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans.

rs34557412 in TNFRSF13B gene and Immunoglobulin a deficiency 2 PMID 16007086 2005 TACI is mutant in common variable immunodeficiency and IgA deficiency.

rs34557412 in TNFRSF13B gene and Lymphocyte Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs34557412 in TNFRSF13B gene and Monocyte count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs34557412 in TNFRSF13B gene and Monocyte count result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs34557412 in TNFRSF13B gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.