ATM c.5547T>A ;(p.I1849=)

Variant ID: 11-108175452-T-A

NM_000051.3(ATM):c.5547T>A;(p.I1849=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2.

Biomedicines
Jaudon, Fanny F; Baldassari, Simona S; Musante, Ilaria I; Thalhammer, Agnes A; Zara, Federico F; Cingolani, Lorenzo A LA
Publication Date: 2020-09-05

Variant appearance in text: ATM: 5547T>A
PubMed Link: 32899500
Variant Present in the following documents:
  • Main text
  • biomedicines-08-00332.pdf
View BVdb publication page



Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.

Oncotarget
Kong, Say Li SL; Liu, Xingliang X; Suhaimi, Nur-Afidah Mohamed NM; Koh, Kenneth Jia Hao KJH; Hu, Min M; Lee, Daniel Yoke San DYS; Cima, Igor I; Phyo, Wai Min WM; Lee, Esther Xing Wei EXW; Tai, Joyce A JA; Foong, Yu Miin YM; Vo, Jess Honganh JH; Koh, Poh Koon PK; Zhang, Tong T; Ying, Jackie Y JY; Lim, Bing B; Tan, Min-Han MH; Hillmer, Axel M AM
Publication Date: 2017-09-15

Variant appearance in text: ATM: I1849I
PubMed Link: 28978093
Variant Present in the following documents:
  • oncotarget-08-68026-s002.xlsx, sheet 3
View BVdb publication page