Variant: rs74315507 

    present in Gene: RAC2
    present in Chromosome: 22
    Position on Chromosome: 37232857
    Alleles of this Variant: C/T

rs74315507 in RAC2 gene and Neutrophil Immunodeficiency Syndrome PMID 11278678 2001 Biochemical and biological characterization of a human Rac2 GTPase mutant associated with phagocytic immunodeficiency.

PMID 21167572 2011 Human phagocyte defect caused by a Rac2 mutation detected by means of neonatal screening for T-cell lymphopenia.

PMID 14676277 2004 Rac2D57N, a dominant inhibitory Rac2 mutant that inhibits p38 kinase signaling and prevents surface ruffling in bone-marrow-derived macrophages.

PMID 10758162 2000 Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation.

PMID 10961859 2000 Dominant negative mutation of the hematopoietic-specific Rho GTPase, Rac2, is associated with a human phagocyte immunodeficiency.