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BRCA1 c.4267_4268delinsGA ;(p.S1423D)
Variant ID: 17-41234510-CT-TC
NM_007294.3(
BRCA1
):c.4267_4268delinsGA;(p.S1423D)
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:
BRCA1 transports the DNA damage signal for CDDP-induced centrosome amplification through the centrosomal Aurora A.
Cancer Science
Qi, Huicheng H; Kikuchi, Megumi M; Yoshino, Yuki Y; Fang, Zhenzhou Z; Ohashi, Kazune K; Gotoh, Takato T; Ideta, Ryo R; Ui, Ayako A; Endo, Shino S; Otsuka, Kei K; Shindo, Norihisa N; Gonda, Kohsuke K; Ishioka, Chikashi C; Miki, Yoshio Y; Iwabuchi, Tokuro T; Chiba, Natsuko N
Publication Date: 2022-09-09
Variant appearance in text: BRCA1: S1423D
PubMed Link:
36082621
Variant Present in the following documents:
Main text
CAS-113-4230.pdf
View BVdb publication page
PP2Cδ inhibits p300-mediated p53 acetylation via ATM/BRCA1 pathway to impede DNA damage response in breast cancer.
Science Advances
Li, Qun Q; Hao, Qiongyu Q; Cao, Wei W; Li, Jieqing J; Wu, Ke K; Elshimali, Yahya Y; Zhu, Donghui D; Chen, Qiao-Hong QH; Chen, Guanglin G; Pollack, Jonathan R JR; Vadgama, Jay J; Wu, Yong Y
Publication Date: 2019-10
Variant appearance in text: BRCA1: S1423D
PubMed Link:
31663018
Variant Present in the following documents:
Main text
aaw8417.pdf
View BVdb publication page