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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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