TSC2 c.631T>G ;(p.S211A)

Variant ID: 16-2106228-T-G

NM_000548.3(TSC2):c.631T>G;(p.S211A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


TSC2 regulates lysosome biogenesis via a non-canonical RAGC and TFEB-dependent mechanism.

Nature Communications
Alesi, Nicola N; Akl, Elie W EW; Khabibullin, Damir D; Liu, Heng-Jia HJ; Nidhiry, Anna S AS; Garner, Emma R ER; Filippakis, Harilaos H; Lam, Hilaire C HC; Shi, Wei W; Viswanathan, Srinivas R SR; Morroni, Manrico M; Ferguson, Shawn M SM; Henske, Elizabeth P EP
Publication Date: 2021-07-12

Variant appearance in text: TSC2: S211A
PubMed Link: 34253722
Variant Present in the following documents:
  • 41467_2021_24499_MOESM1_ESM.pdf
View BVdb publication page