Variant: rs587781250 

    present in Gene: HSPB1
    present in Chromosome: 7
    Position on Chromosome: 76303817
    Alleles of this Variant: G/A;T

rs587781250 in HSPB1 gene and Charcot-Marie-Tooth Disease PMID 25025039 2014 Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

PMID 15122254 2004 Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.

PMID 20660910 2010 Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy.

PMID 22031878 2011 Small heat-shock protein HSPB1 mutants stabilize microtubules in Charcot-Marie-Tooth neuropathy.

PMID 20178975 2010 Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy.