ESR1 c.1782G>C ;(p.T594=)

Variant ID: 6-152420095-G-C

NM_000125.3(ESR1):c.1782G>C;(p.T594=)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: ESR1: T594T
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
View BVdb publication page



Establishment and characterization of novel highly aggressive HER2‑positive and triple‑negative breast cancer cell lines.

Oncology Reports
Thongchot, Suyanee S; Jamjuntra, Pranisa P; Prasopsiri, Jaturawitt J; Thuwajit, Peti P; Sawasdee, Nunghathai N; Poungvarin, Naravat N; Warnnissorn, Malee M; Sa-Nguanraksa, Doonyapat D; O-Charoenrat, Pornchai P; Yenchitsomanus, Pa-Thai PT; Thuwajit, Chanitra C
Publication Date: 2021-12

Variant appearance in text: ESR1: T594T
PubMed Link: 34651665
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine
Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z
Publication Date: 2020-05

Variant appearance in text: ESR1: Thr594=
PubMed Link: 32277576
Variant Present in the following documents:
  • JCMM-24-4931-s010.xlsx, sheet 1
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Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Plos One
Soukupova, Jana J; Zemankova, Petra P; Lhotova, Klara K; Janatova, Marketa M; Borecka, Marianna M; Stolarova, Lenka L; Lhota, Filip F; Foretova, Lenka L; Machackova, Eva E; Stranecky, Viktor V; Tavandzis, Spiros S; Kleiblova, Petra P; Vocka, Michal M; Hartmannova, Hana H; Hodanova, Katerina K; Kmoch, Stanislav S; Kleibl, Zdenek Z
Publication Date: 2018

Variant appearance in text: ESR1: T594T
PubMed Link: 29649263
Variant Present in the following documents:
  • pone.0195761.s003.xlsx, sheet 1
View BVdb publication page



Investigation of variants in estrogen receptor genes and perinatal depression.

Neuropsychiatric Disease And Treatment
Tan, Ene-Choo EC; Lim, Hwee-Woon HW; Chua, Tze-Ern TE; Tan, Hui-San HS; Lee, Theresa My TM; Chen, Helen Y HY
Publication Date: 2018

Variant appearance in text: ESR1: Thr594Thr
PubMed Link: 29636617
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeted next-generation sequencing reveals multiple deleterious variants in OPLL-associated genes.

Scientific Reports
Chen, Xin X; Guo, Jun J; Cai, Tao T; Zhang, Fengshan F; Pan, Shengfa S; Zhang, Li L; Wang, Shaobo S; Zhou, Feifei F; Diao, Yinze Y; Zhao, Yanbin Y; Chen, Zhen Z; Liu, Xiaoguang X; Chen, Zhongqiang Z; Liu, Zhongjun Z; Sun, Yu Y; Du, Jie J
Publication Date: 2016-06-01

Variant appearance in text: ESR1: T594T
PubMed Link: 27246988
Variant Present in the following documents:
  • srep26962-s1.pdf
View BVdb publication page



Evaluation of functional genetic variants at 6q25.1 and risk of breast cancer in a Chinese population.

Breast Cancer Research : Bcr
Wang, Yanru Y; He, Yisha Y; Qin, Zhenzhen Z; Jiang, Yue Y; Jin, Guangfu G; Ma, Hongxia H; Dai, Juncheng J; Chen, Jiaping J; Hu, Zhibin Z; Guan, Xiaoxiang X; Shen, Hongbing H
Publication Date: 2014-08-14

Variant appearance in text: ESR1: Thr594Thr
PubMed Link: 25116933
Variant Present in the following documents:
  • Main text
  • 13058_2014_Article_422.pdf
View BVdb publication page



Genetic polymorphisms in the EGFR (R521K) and estrogen receptor (T594T) genes, EGFR and ErbB-2 protein expression, and breast cancer risk in Tunisia.

Journal Of Biomedicine & Biotechnology
Kallel, Imen I; Rebai, Maha M; Khabir, Abdelmajid A; Farid, Nadir R NR; Rebaï, Ahmed A
Publication Date: 2009

Variant appearance in text: ESR1: T594T
PubMed Link: 19636371
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms in estrogen-metabolizing and estrogen receptor genes and the risk of developing breast cancer among a cohort of women with benign breast disease.

Bmc Cancer
Gallicchio, Lisa L; Berndt, Sonja I SI; McSorley, Meghan A MA; Newschaffer, Craig J CJ; Thuita, Lucy W LW; Argani, Pedram P; Hoffman, Sandra C SC; Helzlsouer, Kathy J KJ
Publication Date: 2006-06-29

Variant appearance in text: ESR1: Thr594Thr
PubMed Link: 16808847
Variant Present in the following documents:
  • Main text
View BVdb publication page