ATM c.1215T>A ;(p.N405K)

Variant ID: 11-108119809-T-A

NM_000051.3(ATM):c.1215T>A;(p.N405K)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: ATM: N405K
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Differential Response to Olaparib Treatment Among Men with Metastatic Castration-resistant Prostate Cancer Harboring BRCA1 or BRCA2 Versus ATM Mutations.

European Urology
Marshall, Catherine H CH; Sokolova, Alexandra O AO; McNatty, Andrea L AL; Cheng, Heather H HH; Eisenberger, Mario A MA; Bryce, Alan H AH; Schweizer, Michael T MT; Antonarakis, Emmanuel S ES
Publication Date: 2019-10

Variant appearance in text: ATM: N405K
PubMed Link: 30797618
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

Journal Of Medical Genetics
Decker, Brennan B; Allen, Jamie J; Luccarini, Craig C; Pooley, Karen A KA; Shah, Mitul M; Bolla, Manjeet K MK; Wang, Qin Q; Ahmed, Shahana S; Baynes, Caroline C; Conroy, Don M DM; Brown, Judith J; Luben, Robert R; Ostrander, Elaine A EA; Pharoah, Paul Dp PD; Dunning, Alison M AM; Easton, Douglas F DF
Publication Date: 2017-11

Variant appearance in text: ATM: Asn405Lys
PubMed Link: 28779002
Variant Present in the following documents:
  • jmedgenet-2017-104588supp005.pdf
View BVdb publication page