TSC2 c.4914G>C ;(p.K1638N)

Variant ID: 16-2136797-G-C

NM_000548.3(TSC2):c.4914G>C;(p.K1638N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Structural insights into TSC complex assembly and GAP activity on Rheb.

Nature Communications
Yang, Huirong H; Yu, Zishuo Z; Chen, Xizi X; Li, Jiabei J; Li, Ningning N; Cheng, Jiaxuan J; Gao, Ning N; Yuan, Hai-Xin HX; Ye, Dan D; Guan, Kun-Liang KL; Xu, Yanhui Y
Publication Date: 2021-01-12

Variant appearance in text: TSC2: K1638N
PubMed Link: 33436626
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_20522.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: K1638N
PubMed Link: 23514105
Variant Present in the following documents:
  • 2040-2392-4-5-S5.xls, sheet 1
View BVdb publication page