Variant: rs1057516261 

    present in Gene: BLM
    present in Chromosome: 15
    Position on Chromosome: 90811327
    Alleles of this Variant: AGGAA/-

rs1057516261 in BLM gene and Bloom Syndrome PMID 27657136 2016 Regulation of BLM Nucleolar Localization.

PMID 9388480 1997 BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal.

PMID 10569803 1999 Localization of the Bloom syndrome helicase to punctate nuclear structures and the nuclear matrix and regulation during the cell cycle: comparison with the Werner's syndrome helicase.