TBC1D1, TBC1 domain family member 1, 23216

N. diseases: 25; N. variants: 7
Disease: Familial obesity ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs35859249
rs35859249
Entrez Id: 23216
Gene Symbol: TBC1D1
TBC1D1
CUI: C1281440
Disease:
Familial obesity 		0.030 GeneticVariation BEFREE The interaction enhances the efficiency by which AMPK phosphorylates TBC1D1 on its key regulatory site, Ser<sup>237</sup> Furthermore, the interaction is reduced by a naturally occurring R125W mutation in the PTB1 domain of TBC1D1, previously found to be associated with severe familial obesity in females, with a concomitant reduction in Ser<sup>237</sup> phosphorylation. 30135087 2018
dbSNP: rs35859249
rs35859249
Entrez Id: 23216
Gene Symbol: TBC1D1
TBC1D1
CUI: C1281440
Disease:
Familial obesity 		0.030 GeneticVariation BEFREE A non-synonymous polymorphism (rs35859249, p.Arg125Trp) in the N-terminal TBC1D1 phosphotyrosine-binding (PTB) domain has shown a replicated association with familial obesity in women. 23667688 2013
dbSNP: rs35859249
rs35859249
Entrez Id: 23216
Gene Symbol: TBC1D1
TBC1D1
CUI: C1281440
Disease:
Familial obesity 		0.030 GeneticVariation BEFREE These results confirm a putative role of TBC1D1 R125W variant in familial obesity predisposition. 18325908 2008