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SMARCA4 c.3701_3712del ;(p.F1234_K1237del)
Variant ID: 19-11144117-TGTTCGACCAGAA-T
NM_003072.3(
SMARCA4
):c.3701_3712del;(p.F1234_K1237del)
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:
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: SMARCA4: 3701_3712del; F1234_K1237del
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page
Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.
Plos Genetics
Padovan-Merhar, Olivia M OM; Raman, Pichai P; Ostrovnaya, Irina I; Kalletla, Karthik K; Rubnitz, Kaitlyn R KR; Sanford, Eric M EM; Ali, Siraj M SM; Miller, Vincent A VA; Mossé, Yael P YP; Granger, Meaghan P MP; Weiss, Brian B; Maris, John M JM; Modak, Shakeel S
Publication Date: 2016-12
Variant appearance in text: SMARCA4: 3701_3712delTCGACCAGAAGT
PubMed Link:
27997549
Variant Present in the following documents:
pgen.1006501.s002.xlsx, sheet 1
View BVdb publication page