TSC2 c.3605C>A ;(p.P1202H)

Variant ID: 16-2130373-C-A

NM_000548.3(TSC2):c.3605C>A;(p.P1202H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Conditional cell reprogramming involves non-canonical β-catenin activation and mTOR-mediated inactivation of Akt.

Plos One
Suprynowicz, Frank A FA; Kamonjoh, Christopher M CM; Krawczyk, Ewa E; Agarwal, Seema S; Wellstein, Anton A; Agboke, Fadeke A FA; Choudhury, Sujata S; Liu, Xuefeng X; Schlegel, Richard R
Publication Date: 2017

Variant appearance in text: TSC2: P1202H
PubMed Link: 28700668
Variant Present in the following documents:
  • Main text
  • pone.0180897.pdf
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: P1202H
PubMed Link: 23514105
Variant Present in the following documents:
  • 2040-2392-4-5-S5.xls, sheet 1
View BVdb publication page