ATM c.389A>T ;(p.D130V)

Variant ID: 11-108106454-A-T

NM_000051.3(ATM):c.389A>T;(p.D130V)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: ATM: D130V
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: ATM: 389A>T
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 3
  • pone.0249324.s003.xlsx, sheet 1
  • pone.0249324.s003.xlsx, sheet 2
View BVdb publication page



Ataxia telangiectasia-mutated (ATM) kinase activity is regulated by ATP-driven conformational changes in the Mre11/Rad50/Nbs1 (MRN) complex.

The Journal Of Biological Chemistry
Lee, Ji-Hoon JH; Mand, Michael R MR; Deshpande, Rajashree A RA; Kinoshita, Eri E; Yang, Soo-Hyun SH; Wyman, Claire C; Paull, Tanya T TT
Publication Date: 2013-05-03

Variant appearance in text: ATM: D130V
PubMed Link: 23525106
Variant Present in the following documents:
  • Main text
  • zbc12840.pdf
View BVdb publication page



Human Mre11/human Rad50/Nbs1 and DNA ligase IIIalpha/XRCC1 protein complexes act together in an alternative nonhomologous end joining pathway.

The Journal Of Biological Chemistry
Della-Maria, Julie J; Zhou, Yi Y; Tsai, Miaw-Sheue MS; Kuhnlein, Jeff J; Carney, James P JP; Paull, Tanya T TT; Tomkinson, Alan E AE
Publication Date: 2011-09-30

Variant appearance in text: ATM: D130V
PubMed Link: 21816818
Variant Present in the following documents:
  • Main text
View BVdb publication page