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BRCA1 c.190_191delinsGC ;(p.C64A)
Variant ID: 17-41258494-CA-GC
NM_007294.3(
BRCA1
):c.190_191delinsGC;(p.C64A)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
APE1 assembles biomolecular condensates to promote the ATR-Chk1 DNA damage response in nucleolus.
Nucleic Acids Research
Li, Jia J; Zhao, Haichao H; McMahon, Anne A; Yan, Shan S
Publication Date: 2022-10-14
Variant appearance in text: BRCA1: C64A
PubMed Link:
36200829
Variant Present in the following documents:
Main text
gkac853.pdf
View BVdb publication page
Structural characterization of the Z RING-eIF4E complex reveals a distinct mode of control for eIF4E.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Volpon, Laurent L; Osborne, Michael J MJ; Capul, Althea A AA; de la Torre, Juan C JC; Borden, Katherine L B KL
Publication Date: 2010-03-23
Variant appearance in text: BRCA1: C64A
PubMed Link:
20212144
Variant Present in the following documents:
Main text
View BVdb publication page
Redox regulation of DNA repair: implications for human health and cancer therapeutic development.
Antioxidants & Redox Signaling
Luo, Meihua M; He, Hongzhen H; Kelley, Mark R MR; Georgiadis, Millie M MM
Publication Date: 2010-06-01
Variant appearance in text: BRCA1: C64A
PubMed Link:
19764832
Variant Present in the following documents:
Main text
View BVdb publication page