Variant: rs771966860 

    present in Gene: SQSTM1;MRNIP
    present in Chromosome: 5
    Position on Chromosome: 179836480
    Alleles of this Variant: A/G

rs771966860 in SQSTM1;MRNIP gene and PAGET DISEASE OF BONE 3 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 15146436 2004 Familial Paget's disease in The Netherlands: occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations.

PMID 12374763 2002 Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease.

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

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