ESR1 c.148G>A ;(p.A50T)

Variant ID: 6-152129195-G-A

NM_000125.3(ESR1):c.148G>A;(p.A50T)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience
Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X
Publication Date: 2022-09-16

Variant appearance in text: ESR1: 148G>A; A50T
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Genomic clonal evolution correlated with phenotype and prognosis in gastric cancer.

Clinical And Translational Medicine
Ge, Jie J; Li, Xuan X; Deng, Zhenghao Z; Gao, Xuan X; Liu, Yaoyao Y; Xiong, Xingui X; Zhao, Xianhui X; Peng, Huan H; Yi, Xin X; Xia, Xuefeng X; Chen, Zihua Z; Li, Lifeng L; Zhou, Haiyan H; Liu, Heli H
Publication Date: 2022-04

Variant appearance in text: ESR1: 148G>A; A50T
PubMed Link: 35384329
Variant Present in the following documents:
  • CTM2-12-e799-s006.xlsx, sheet 2
View BVdb publication page



A Rare CD4-CD8+ Adult T-Cell Leukemia/Lymphoma with Unique Molecular Mutations: A Case Report with Literature Review.

Case Reports In Hematology
Choudhuri, Jui J; Geiser Roberts, Leah L; Zhang, Yan Y; Wang, Yanhua Y; Fang, Yanan Y
Publication Date: 2020

Variant appearance in text: ESR1: 148G>A; A50T
PubMed Link: 33178468
Variant Present in the following documents:
  • CRIHEM2020-8890502.pdf
View BVdb publication page



Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications
Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U
Publication Date: 2020-07-20

Variant appearance in text: ESR1: A50T
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



DNA demethylation is associated with malignant progression of lower-grade gliomas.

Scientific Reports
Nomura, Masashi M; Saito, Kuniaki K; Aihara, Koki K; Nagae, Genta G; Yamamoto, Shogo S; Tatsuno, Kenji K; Ueda, Hiroki H; Fukuda, Shiro S; Umeda, Takayoshi T; Tanaka, Shota S; Takayanagi, Shunsaku S; Otani, Ryohei R; Nejo, Takahide T; Hana, Taijun T; Takahashi, Satoshi S; Kitagawa, Yosuke Y; Omata, Mayu M; Higuchi, Fumi F; Nakamura, Taishi T; Muragaki, Yoshihiro Y; Narita, Yoshitaka Y; Nagane, Motoo M; Nishikawa, Ryo R; Ueki, Keisuke K; Saito, Nobuhito N; Aburatani, Hiroyuki H; Mukasa, Akitake A
Publication Date: 2019-02-13

Variant appearance in text: ESR1: A50T
PubMed Link: 30760837
Variant Present in the following documents:
  • 41598_2019_38510_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: ESR1: A50T
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page