Variant: rs104894492 

    present in Gene: NR2E3
    present in Chromosome: 15
    Position on Chromosome: 71811590
    Alleles of this Variant: C/A;T

rs104894492 in NR2E3 gene and Enhanced S-Cone Syndrome PMID 18294254 2008 Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.

PMID 10655056 2000 Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

PMID 24069298 2013 The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation.

PMID 16225923 2005 Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.

PMID 15459973 2004 Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.

PMID 12963616 2003 Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.

PMID 11071390 2000 The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.

PMID 19006237 2009 Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.