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RUNX2 c.541_542delinsGC ;(p.R181A)
Variant ID: 6-45399717-AG-GC
NM_001024630.3(
RUNX2
):c.541_542delinsGC;(p.R181A)
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:
Structural basis of autoinhibition and activation of the DNA-targeting ADP-ribosyltransferase pierisin-1.
The Journal Of Biological Chemistry
Oda, Takashi T; Hirabayashi, Hirokazu H; Shikauchi, Gen G; Takamura, Ryouma R; Hiraga, Kiyoshi K; Minami, Hiroshi H; Hashimoto, Hiroshi H; Yamamoto, Masafumi M; Wakabayashi, Keiji K; Shimizu, Toshiyuki T; Sato, Mamoru M
Publication Date: 2017-09-15
Variant appearance in text: CCD: R181A
PubMed Link:
28765284
Variant Present in the following documents:
Main text
View BVdb publication page
Capturing snapshots of APE1 processing DNA damage.
Nature Structural & Molecular Biology
Freudenthal, Bret D BD; Beard, William A WA; Cuneo, Matthew J MJ; Dyrkheeva, Nadezhda S NS; Wilson, Samuel H SH
Publication Date: 2015-11
Variant appearance in text: CCD: R181A
PubMed Link:
26458045
Variant Present in the following documents:
Main text
nihms721537.pdf
View BVdb publication page