SMARCA4 c.1174C>G ;(p.L392V)

Variant ID: 19-11100048-C-G

NM_003072.3(SMARCA4):c.1174C>G;(p.L392V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cancer-Associated Gain-of-Function Mutations Activate a SWI/SNF-Family Regulatory Hub.

Molecular Cell
Clapier, Cedric R CR; Verma, Naveen N; Parnell, Timothy J TJ; Cairns, Bradley R BR
Publication Date: 2020-11-19

Variant appearance in text: BRG1: L392V
PubMed Link: 33058778
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
View BVdb publication page



The HSA domain binds nuclear actin-related proteins to regulate chromatin-remodeling ATPases.

Nature Structural & Molecular Biology
Szerlong, Heather H; Hinata, Kaede K; Viswanathan, Ramya R; Erdjument-Bromage, Hediye H; Tempst, Paul P; Cairns, Bradley R BR
Publication Date: 2008-05

Variant appearance in text: BRG1: L392V
PubMed Link: 18408732
Variant Present in the following documents:
  • Main text
View BVdb publication page