ATM c.2962A>G ;(p.K988E)

Variant ID: 11-108142018-A-G

NM_000051.3(ATM):c.2962A>G;(p.K988E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mapping molecular subtype specific alterations in breast cancer brain metastases identifies clinically relevant vulnerabilities.

Nature Communications
Cosgrove, Nicola N; Varešlija, Damir D; Keelan, Stephen S; Elangovan, Ashuvinee A; Atkinson, Jennifer M JM; Cocchiglia, Sinéad S; Bane, Fiona T FT; Singh, Vikrant V; Furney, Simon S; Hu, Chunling C; Carter, Jodi M JM; Hart, Steven N SN; Yadav, Siddhartha S; Goetz, Matthew P MP; Hill, Arnold D K ADK; Oesterreich, Steffi S; Lee, Adrian V AV; Couch, Fergus J FJ; Young, Leonie S LS
Publication Date: 2022-01-26

Variant appearance in text: ATM: K988E
PubMed Link: 35082299
Variant Present in the following documents:
  • 41467_2022_27987_MOESM22_ESM.xlsx, sheet 1
View BVdb publication page



Mapping molecular subtype specific alterations in breast cancer brain metastases identifies clinically relevant vulnerabilities.

Nature Communications
Cosgrove, Nicola N; Varešlija, Damir D; Keelan, Stephen S; Elangovan, Ashuvinee A; Atkinson, Jennifer M JM; Cocchiglia, Sinéad S; Bane, Fiona T FT; Singh, Vikrant V; Furney, Simon S; Hu, Chunling C; Carter, Jodi M JM; Hart, Steven N SN; Yadav, Siddhartha S; Goetz, Matthew P MP; Hill, Arnold D K ADK; Oesterreich, Steffi S; Lee, Adrian V AV; Couch, Fergus J FJ; Young, Leonie S LS
Publication Date: 2022-01-26

Variant appearance in text: ATM: K988E
PubMed Link: 35082299
Variant Present in the following documents:
  • 41467_2022_27987_MOESM22_ESM.xlsx, sheet 1
View BVdb publication page



Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications
Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2018-10-04

Variant appearance in text: ATM: 2962A>G; Lys988Glu; rs772327699
PubMed Link: 30287823
Variant Present in the following documents:
  • 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page