ESR1 c.1348_1349inv ;(p.S450D)

Variant ID: 6-152382238-TC-GA

NM_000125.3(ESR1):c.1348_1349inv;(p.S450D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Hormonal modulation of ESR1 mutant metastasis.

Oncogene
Gu, Guowei G; Tian, Lin L; Herzog, Sarah K SK; Rechoum, Yassine Y; Gelsomino, Luca L; Gao, Meng M; Du, Lili L; Kim, Jin-Ah JA; Dustin, Derek D; Lo, Hin Ching HC; Beyer, Amanda R AR; Edwards, David G DG; Gonzalez, Thomas T; Tsimelzon, Anna A; Huang, Helen J HJ; Fernandez, Natalie M NM; Grimm, Sandra L SL; Hilsenbeck, Susan G SG; Liu, Dan D; Xu, Jun J; Alaniz, Alyssa A; Li, Shunqiang S; Mills, Gordon B GB; Janku, Filip F; Kittler, Ralf R; Zhang, Xiang H-F XH; Coarfa, Cristian C; Foulds, Charles E CE; Symmans, W Fraser WF; Andò, Sebastiano S; Fuqua, Suzanne A W SAW
Publication Date: 2021-02

Variant appearance in text: ESR1: S450D
PubMed Link: 33323970
Variant Present in the following documents:
  • NIHMS1645970-supplement-1645970_Supp_Method_and_Material.pdf
View BVdb publication page



Functional Annotation of ESR1 Gene Fusions in Estrogen Receptor-Positive Breast Cancer.

Cell Reports
Lei, Jonathan T JT; Shao, Jieya J; Zhang, Jin J; Iglesia, Michael M; Chan, Doug W DW; Cao, Jin J; Anurag, Meenakshi M; Singh, Purba P; He, Xiaping X; Kosaka, Yoshimasa Y; Matsunuma, Ryoichi R; Crowder, Robert R; Hoog, Jeremy J; Phommaly, Chanpheng C; Goncalves, Rodrigo R; Ramalho, Susana S; Peres, Raquel Mary Rodrigues RMR; Punturi, Nindo N; Schmidt, Cheryl C; Bartram, Alex A; Jou, Eric E; Devarakonda, Vaishnavi V; Holloway, Kimberly R KR; Lai, W Victoria WV; Hampton, Oliver O; Rogers, Anna A; Tobias, Ethan E; Parikh, Poojan A PA; Davies, Sherri R SR; Li, Shunqiang S; Ma, Cynthia X CX; Suman, Vera J VJ; Hunt, Kelly K KK; Watson, Mark A MA; Hoadley, Katherine A KA; Thompson, E Aubrey EA; Chen, Xi X; Kavuri, Shyam M SM; Creighton, Chad J CJ; Maher, Christopher A CA; Perou, Charles M CM; Haricharan, Svasti S; Ellis, Matthew J MJ
Publication Date: 2018-08-07

Variant appearance in text: ESR1: S450D
PubMed Link: 30089255
Variant Present in the following documents:
  • Main text
  • nihms-985142.pdf
View BVdb publication page