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HR c.2020_2021delinsGC ;(p.S674A)
Variant ID: 8-21980106-CT-GC
NM_005144.4(
HR
):c.2020_2021delinsGC;(p.S674A)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The multi-functionality of UHRF1: epigenome maintenance and preservation of genome integrity.
Nucleic Acids Research
Mancini, Monica M; Magnani, Elena E; Macchi, Filippo F; Bonapace, Ian Marc IM
Publication Date: 2021-06-21
Variant appearance in text: HR: S674A
PubMed Link:
33939809
Variant Present in the following documents:
Main text
View BVdb publication page
A cell cycle-dependent BRCA1-UHRF1 cascade regulates DNA double-strand break repair pathway choice.
Nature Communications
Zhang, Haoxing H; Liu, Hailong H; Chen, Yali Y; Yang, Xu X; Wang, Panfei P; Liu, Tongzheng T; Deng, Min M; Qin, Bo B; Correia, Cristina C; Lee, Seungbaek S; Kim, Jungjin J; Sparks, Melanie M; Nair, Asha A AA; Evans, Debra L DL; Kalari, Krishna R KR; Zhang, Pumin P; Wang, Liewei L; You, Zhongsheng Z; Kaufmann, Scott H SH; Lou, Zhenkun Z; Pei, Huadong H
Publication Date: 2016-01-05
Variant appearance in text: HR: S674A
PubMed Link:
26727879
Variant Present in the following documents:
Main text
ncomms10201-s1.pdf
ncomms10201.pdf
View BVdb publication page
53BP1 and the LINC Complex Promote Microtubule-Dependent DSB Mobility and DNA Repair.
Cell
Lottersberger, Francisca F; Karssemeijer, Roos Anna RA; Dimitrova, Nadya N; de Lange, Titia T
Publication Date: 2015-11-05
Variant appearance in text: HR: S674A
PubMed Link:
26544937
Variant Present in the following documents:
Main text
View BVdb publication page
Regulation of DNA end joining, resection, and immunoglobulin class switch recombination by 53BP1.
Molecular Cell
Bothmer, Anne A; Robbiani, Davide F DF; Di Virgilio, Michela M; Bunting, Samuel F SF; Klein, Isaac A IA; Feldhahn, Niklas N; Barlow, Jacqueline J; Chen, Hua-Tang HT; Bosque, David D; Callen, Elsa E; Nussenzweig, André A; Nussenzweig, Michel C MC
Publication Date: 2011-05-06
Variant appearance in text: HR: S674A
PubMed Link:
21549309
Variant Present in the following documents:
Main text
View BVdb publication page