ATM c.3991C>T ;(p.Q1331*)

Variant ID: 11-108155198-C-T

NM_000051.3(ATM):c.3991C>T;(p.Q1331*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


RAD54B mutations enhance the sensitivity of ovarian cancer cells to poly(ADP-ribose) polymerase (PARP) inhibitors.

The Journal Of Biological Chemistry
Liu, Peng P; Lin, Chunxiu C; Liu, Lanlan L; Lu, Ziwen Z; Tu, Zhigang Z; Liu, Hanqing H
Publication Date: 2022-09

Variant appearance in text: ATM: 3991C>T; Gln1331*
PubMed Link: 35952757
Variant Present in the following documents:
  • mmc3.xls, sheet 7
View BVdb publication page



Identification of Germline Mutations in Upper Tract Urothelial Carcinoma With Suspected Lynch Syndrome.

Frontiers In Oncology
Guan, Bao B; Wang, Jie J; Li, Xuesong X; Lin, Lin L; Fang, Dong D; Kong, Wenwen W; Tian, Chuangyu C; Li, Juan J; Yang, Kunlin K; Han, Guanpeng G; Wu, Yucai Y; He, Yuhui Y; Peng, Yiji Y; Yu, Yanfei Y; He, Qun Q; He, Shiming S; Gong, Yanqing Y; Zhou, Liqun L; Tang, Qi Q
Publication Date: 2022

Variant appearance in text: ATM: 3991C>T; Gln1331*
PubMed Link: 35372080
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page