Variant: rs1346865805 

    present in Gene: OPTN
    present in Chromosome: 10
    Position on Chromosome: 13110416
    Alleles of this Variant: G/C

rs1346865805 in OPTN gene and Glaucoma, Primary Open Angle PMID 22854040 2012 Optineurin mediates a negative regulation of Rab8 by the GTPase-activating protein TBC1D17.

PMID 15226658 2004 Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population.

PMID 23669351 2013 Enhanced optineurin E50K-TBK1 interaction evokes protein insolubility and initiates familial primary open-angle glaucoma.

PMID 17389490 2007 A glaucoma-associated mutant of optineurin selectively induces death of retinal ganglion cells which is inhibited by antioxidants.

PMID 12939304 2003 Among them, only E103D, H486R, V148V, and IVS13+21C-->G were found exclusively in patients with POAG, whereas P199P, T202T, and IVS8+20G-->A were present only in control subjects.

PMID 15326130 2004 Defining the pathogenicity of optineurin in juvenile open-angle glaucoma.

PMID 11834836 2002 Adult-onset primary open-angle glaucoma caused by mutations in optineurin.

PMID 14597044 2003 Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma.

PMID 15557444 2004 Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma.

PMID 24752605 2014 E50K-OPTN-induced retinal cell death involves the Rab GTPase-activating protein, TBC1D17 mediated block in autophagy.

PMID 20085643 2010 Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant.