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SMARCA4 c.2062_2063delinsGC ;(p.K688A)
Variant ID: 19-11118638-AA-GC
NM_003072.3(
SMARCA4
):c.2062_2063delinsGC;(p.K688A)
This variant was identified in 1 publication
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: K688A
PubMed Link:
33058778
Variant Present in the following documents:
Main text
mmc2.pdf
View BVdb publication page