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ATM c.9046A>C ;(p.K3016Q)
Variant ID: 11-108236110-A-C
NM_000051.3(
ATM
):c.9046A>C;(p.K3016Q)
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:
STK38 promotes ATM activation by acting as a reader of histone H4 ufmylation.
Science Advances
Qin, Bo B; Yu, Jia J; Nowsheen, Somaira S; Zhao, Fei F; Wang, Liewei L; Lou, Zhenkun Z
Publication Date: 2020-06
Variant appearance in text: ATM: K3016Q
PubMed Link:
32537488
Variant Present in the following documents:
Main text
aax8214.pdf
View BVdb publication page
SIRT7-mediated ATM deacetylation is essential for its deactivation and DNA damage repair.
Science Advances
Tang, Ming M; Li, Zhiming Z; Zhang, Chaohua C; Lu, Xiaopeng X; Tu, Bo B; Cao, Ziyang Z; Li, Yinglu Y; Chen, Yongcan Y; Jiang, Lu L; Wang, Hui H; Wang, Lina L; Wang, Jiadong J; Liu, Baohua B; Xu, Xingzhi X; Wang, Haiying H; Zhu, Wei-Guo WG
Publication Date: 2019-03
Variant appearance in text: ATM: K3016Q
PubMed Link:
30944854
Variant Present in the following documents:
Main text
aav1118.pdf
View BVdb publication page