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HR c.3259_3260inv ;(p.S1087L)
Variant ID: 8-21974506-CT-AG
NM_005144.4(
HR
):c.3259_3260inv;(p.S1087L)
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:
Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.
Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07
Variant appearance in text: HR: S1087L
PubMed Link:
31925297
Variant Present in the following documents:
42003_2019_736_MOESM13_ESM.xlsx, sheet 1
View BVdb publication page
Structural basis for functional cooperation between tandem helicase cassettes in Brr2-mediated remodeling of the spliceosome.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Santos, Karine F KF; Jovin, Sina Mozaffari SM; Weber, Gert G; Pena, Vladimir V; Lührmann, Reinhard R; Wahl, Markus C MC
Publication Date: 2012-10-23
Variant appearance in text: HR: S1087L
PubMed Link:
23045696
Variant Present in the following documents:
Main text
View BVdb publication page