Variant: rs776749939 

    present in Gene: SQSTM1
    present in Chromosome: 5
    Position on Chromosome: 179833777
    Alleles of this Variant: C/T

rs776749939 in SQSTM1 gene and FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 PMID 24899140 2014 Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.

PMID 22084127 2011 SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.

PMID 25114083 2015 A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation.

PMID 24042580 2013 SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.

rs776749939 in SQSTM1 gene and PAGET DISEASE OF BONE 3 PMID 12374763 2002 Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease.

PMID 14584883 2003 Three novel mutations in SQSTM1 identified in familial Paget's disease of bone.

PMID 15176995 2004 Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences.

PMID 15125799 2004 Two novel mutations at exon 8 of the Sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's disease of bone (PDB).

PMID 19931284 2010 Dimerisation of the UBA domain of p62 inhibits ubiquitin binding and regulates NF-kappaB signalling.

PMID 11992264 2002 Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone.

PMID 15207768 2004 Identification of SQSTM1 mutations in familial Paget's disease in Australian pedigrees.

PMID 15146436 2004 Familial Paget's disease in The Netherlands: occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations.