APC c.2836A>G ;(p.T946A)

Variant ID: 5-112174127-A-G

NM_000038.5(APC):c.2836A>G;(p.T946A)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Detection of enterovirus RNA in peripheral blood mononuclear cells correlates with the presence of the predisposing allele of the type 1 diabetes risk gene IFIH1 and with disease stage.

Diabetologia
Sioofy-Khojine, Amir-Babak AB; Richardson, Sarah J SJ; Locke, Jonathan M JM; Oikarinen, Sami S; Nurminen, Noora N; Laine, Antti-Pekka AP; Downes, Kate K; Lempainen, Johanna J; Todd, John A JA; Veijola, Riitta R; Ilonen, Jorma J; Knip, Mikael M; Morgan, Noel G NG; Hyöty, Heikki H; Peakman, Mark M; Eichmann, Martin M
Publication Date: 2022-10

Variant appearance in text: APC: Thr946Ala
PubMed Link: 35867130
Variant Present in the following documents:
  • Main text
  • 125_2022_Article_5753.pdf
View BVdb publication page



De-coding genetic risk variants in type 1 diabetes.

Immunology And Cell Biology
Shapiro, Melanie R MR; Thirawatananond, Puchong P; Peters, Leeana L; Sharp, Robert C RC; Ogundare, Similoluwa S; Posgai, Amanda L AL; Perry, Daniel J DJ; Brusko, Todd M TM
Publication Date: 2021-05

Variant appearance in text: APC: T946A
PubMed Link: 33483996
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dissecting diabetes/metabolic disease mechanisms using pluripotent stem cells and genome editing tools.

Molecular Metabolism
Teo, Adrian Kee Keong AK; Gupta, Manoj K MK; Doria, Alessandro A; Kulkarni, Rohit N RN
Publication Date: 2015-09

Variant appearance in text: APC: T946A
PubMed Link: 26413465
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



The genetic basis of graves' disease.

Current Genomics
Płoski, Rafał R; Szymański, Konrad K; Bednarczuk, Tomasz T
Publication Date: 2011-12

Variant appearance in text: APC: Thr946Ala
PubMed Link: 22654555
Variant Present in the following documents:
  • Main text
  • CG-12-542.pdf
View BVdb publication page



Reduced expression of IFIH1 is protective for type 1 diabetes.

Plos One
Downes, Kate K; Pekalski, Marcin M; Angus, Karen L KL; Hardy, Matthew M; Nutland, Sarah S; Smyth, Deborah J DJ; Walker, Neil M NM; Wallace, Chris C; Todd, John A JA
Publication Date: 2010-09-09

Variant appearance in text: APC: Thr946Ala
PubMed Link: 20844740
Variant Present in the following documents:
  • Main text
  • pone.0012646.pdf
View BVdb publication page