ATM c.3012_3014del ;(p.N1005del)

Variant ID: 11-108142068-GCAA-G

NM_000051.3(ATM):c.3012_3014del;(p.N1005del)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports
Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J
Publication Date: 2021-11-23

Variant appearance in text: ATM: 3012_3014delCAA; N1005del
PubMed Link: 34818533
Variant Present in the following documents:
  • NIHMS1761779-supplement-Table_S8.xlsx, sheet 1
View BVdb publication page



A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports
Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J
Publication Date: 2021-11-23

Variant appearance in text: ATM: 3012_3014delCAA; N1005del
PubMed Link: 34818533
Variant Present in the following documents:
  • NIHMS1761779-supplement-Table_S8.xlsx, sheet 1
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: ATM: 3012_3014del; N1005del
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



BAP1 loss defines a new class of renal cell carcinoma.

Nature Genetics
Peña-Llopis, Samuel S; Vega-Rubín-de-Celis, Silvia S; Liao, Arnold A; Leng, Nan N; Pavía-Jiménez, Andrea A; Wang, Shanshan S; Yamasaki, Toshinari T; Zhrebker, Leah L; Sivanand, Sharanya S; Spence, Patrick P; Kinch, Lisa L; Hambuch, Tina T; Jain, Suneer S; Lotan, Yair Y; Margulis, Vitaly V; Sagalowsky, Arthur I AI; Summerour, Pia Banerji PB; Kabbani, Wareef W; Wong, S W Wendy SW; Grishin, Nick N; Laurent, Marc M; Xie, Xian-Jin XJ; Haudenschild, Christian D CD; Ross, Mark T MT; Bentley, David R DR; Kapur, Payal P; Brugarolas, James J
Publication Date: 2012-06-10

Variant appearance in text: ATM: 3012_3014del
PubMed Link: 22683710
Variant Present in the following documents:
  • NIHMS377160-supplement-Suppl__Data_2.xlsx, sheet 1
View BVdb publication page