ATM c.1141_1143delinsTGA ;(p.S381*)

Variant ID: 11-108119735-AGT-TGA

NM_000051.3(ATM):c.1141_1143delinsTGA;(p.S381*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Evaluation of ATM heterozygous mutations underlying individual differences in radiosensitivity using genome editing in human cultured cells.

Scientific Reports
Royba, Ekaterina E; Miyamoto, Tatsuo T; Natsuko Akutsu, Silvia S; Hosoba, Kosuke K; Tauchi, Hiroshi H; Kudo, Yoshiki Y; Tashiro, Satoshi S; Yamamoto, Takashi T; Matsuura, Shinya S
Publication Date: 2017-07-20

Variant appearance in text: ATM: S381X
PubMed Link: 28729543
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_6393.pdf
View BVdb publication page



Ancient and recent adaptive evolution of primate non-homologous end joining genes.

Plos Genetics
Demogines, Ann A; East, Alysia M AM; Lee, Ji-Hoon JH; Grossman, Sharon R SR; Sabeti, Pardis C PC; Paull, Tanya T TT; Sawyer, Sara L SL
Publication Date: 2010-10-21

Variant appearance in text: ATM: S381*
PubMed Link: 20975951
Variant Present in the following documents:
  • pgen.1001169.pdf
View BVdb publication page