TSC2 c.1118A>C ;(p.Q373P)

Variant ID: 16-2110813-A-C

NM_000548.3(TSC2):c.1118A>C;(p.Q373P)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Structure of the Tuberous Sclerosis Complex 2 (TSC2) N Terminus Provides Insight into Complex Assembly and Tuberous Sclerosis Pathogenesis.

The Journal Of Biological Chemistry
Zech, Reinhard R; Kiontke, Stephan S; Mueller, Uwe U; Oeckinghaus, Andrea A; Kümmel, Daniel D
Publication Date: 2016-09-16

Variant appearance in text: TSC2: Q373P
PubMed Link: 27493206
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Molecular Autism
Bahl, Samira S; Chiang, Colby C; Beauchamp, Roberta L RL; Neale, Benjamin M BM; Daly, Mark J MJ; Gusella, James F JF; Talkowski, Michael E ME; Ramesh, Vijaya V
Publication Date: 2013-03-20

Variant appearance in text: TSC2: Q373P
PubMed Link: 23514105
Variant Present in the following documents:
  • 2040-2392-4-5-S5.xls, sheet 1
View BVdb publication page



A reliable cell-based assay for testing unclassified TSC2 gene variants.

European Journal Of Human Genetics : Ejhg
Coevoets, Ricardo R; Arican, Sermin S; Hoogeveen-Westerveld, Marianne M; Simons, Erik E; van den Ouweland, Ans A; Halley, Dicky D; Nellist, Mark M
Publication Date: 2009-03

Variant appearance in text: TSC2: Q373P
PubMed Link: 18854862
Variant Present in the following documents:
  • Main text
View BVdb publication page