ATM c.2255T>C ;(p.L752P)

Variant ID: 11-108128212-T-C

NM_000051.3(ATM):c.2255T>C;(p.L752P)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: ATM: 2255T>C; L752P
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Background mutations in parental cells account for most of the genetic heterogeneity of induced pluripotent stem cells.

Cell Stem Cell
Young, Margaret A MA; Larson, David E DE; Sun, Chiao-Wang CW; George, Daniel R DR; Ding, Li L; Miller, Christopher A CA; Lin, Ling L; Pawlik, Kevin M KM; Chen, Ken K; Fan, Xian X; Schmidt, Heather H; Kalicki-Veizer, Joelle J; Cook, Lisa L LL; Swift, Gary W GW; Demeter, Ryan T RT; Wendl, Michael C MC; Sands, Mark S MS; Mardis, Elaine R ER; Wilson, Richard K RK; Townes, Tim M TM; Ley, Timothy J TJ
Publication Date: 2012-05-04

Variant appearance in text: ATM: L752P
PubMed Link: 22542160
Variant Present in the following documents:
  • Main text
View BVdb publication page



Somatic coding mutations in human induced pluripotent stem cells.

Nature
Gore, Athurva A; Li, Zhe Z; Fung, Ho-Lim HL; Young, Jessica E JE; Agarwal, Suneet S; Antosiewicz-Bourget, Jessica J; Canto, Isabel I; Giorgetti, Alessandra A; Israel, Mason A MA; Kiskinis, Evangelos E; Lee, Je-Hyuk JH; Loh, Yuin-Han YH; Manos, Philip D PD; Montserrat, Nuria N; Panopoulos, Athanasia D AD; Ruiz, Sergio S; Wilbert, Melissa L ML; Yu, Junying J; Kirkness, Ewen F EF; Izpisua Belmonte, Juan Carlos JC; Rossi, Derrick J DJ; Thomson, James A JA; Eggan, Kevin K; Daley, George Q GQ; Goldstein, Lawrence S B LS; Zhang, Kun K
Publication Date: 2011-03-03

Variant appearance in text: ATM: L752P
PubMed Link: 21368825
Variant Present in the following documents:
  • NIHMS264158-supplement-6.xls, sheet 1
View BVdb publication page