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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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