ATM c.1105T>G ;(p.S369A)

Variant ID: 11-108119699-T-G

NM_000051.3(ATM):c.1105T>G;(p.S369A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: S369A
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Novel Phosphorylations of IKKγ/NEMO.

Mbio
Lee, Sun Hwa SH; Toth, Zsolt Z; Wong, Lai-Yee LY; Brulois, Kevin K; Nguyen, Jim J; Lee, June-Yong JY; Zandi, Ebrahim E; Jung, Jae U JU
Publication Date: 2012-11-06

Variant appearance in text: ATM: S369A
PubMed Link: 23131831
Variant Present in the following documents:
  • Main text
  • mBio.00411-12.pdf
View BVdb publication page



ATM augments nuclear stabilization of DYRK2 by inhibiting MDM2 in the apoptotic response to DNA damage.

The Journal Of Biological Chemistry
Taira, Naoe N; Yamamoto, Hiroyuki H; Yamaguchi, Tomoko T; Miki, Yoshio Y; Yoshida, Kiyotsugu K
Publication Date: 2010-02-12

Variant appearance in text: ATM: S369A
PubMed Link: 19965871
Variant Present in the following documents:
  • Main text
View BVdb publication page