ATM c.6661G>A ;(p.E2221K)

Variant ID: 11-108196125-G-A

NM_000051.3(ATM):c.6661G>A;(p.E2221K)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


NGS-based targeted gene mutational profiles in Korean patients with pancreatic cancer.

Scientific Reports
Jung, Kwangrok K; Lee, Sejoon S; Na, Hee Young HY; Kim, Ji-Won JW; Lee, Jong-Chan JC; Hwang, Jin-Hyeok JH; Kim, Jin Won JW; Kim, Jaihwan J
Publication Date: 2022-12-03

Variant appearance in text: ATM: 6661G>A
PubMed Link: 36463295
Variant Present in the following documents:
  • 41598_2022_24732_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein.

Scientific Reports
Mariani, L L LL; Rivaud-PĂ©choux, S S; Charles, P P; Ewenczyk, C C; Meneret, A A; Monga, B B BB; Fleury, M-C MC; Hainque, E E; Maisonobe, T T; Degos, B B; Echaniz-Laguna, A A; Renaud, M M; Wirth, T T; Grabli, D D; Brice, A A; Vidailhet, M M; Stoppa-Lyonnet, D D; Dubois-d'Enghien, C C; Le Ber, I I; Koenig, M M; Roze, E E; Tranchant, C C; Durr, A A; Gaymard, B B; Anheim, M M
Publication Date: 2017-11-10

Variant appearance in text: ATM: E2221K
PubMed Link: 29127364
Variant Present in the following documents:
View BVdb publication page



Activating mutations in TOR are in similar structures as oncogenic mutations in PI3KCalpha.

Acs Chemical Biology
Sturgill, Thomas W TW; Hall, Michael N MN
Publication Date: 2009-12-18

Variant appearance in text: ATM: E2221K
PubMed Link: 19902965
Variant Present in the following documents:
  • Main text
  • cb900193e.pdf
View BVdb publication page