ESR1 c.64G>C ;(p.E22Q)

Variant ID: 6-152129111-G-C

NM_000125.3(ESR1):c.64G>C;(p.E22Q)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Characterization of the Genomic and Immunologic Diversity of Malignant Brain Tumors through Multisector Analysis.

Cancer Discovery
Schaettler, Maximilian O MO; Richters, Megan M MM; Wang, Anthony Z AZ; Skidmore, Zachary L ZL; Fisk, Bryan B; Miller, Katherine E KE; Vickery, Tammi L TL; Kim, Albert H AH; Chicoine, Michael R MR; Osbun, Joshua W JW; Leuthardt, Eric C EC; Dowling, Joshua L JL; Zipfel, Gregory J GJ; Dacey, Ralph G RG; Lu, Hsiang-Chih HC; Johanns, Tanner M TM; Griffith, Obi L OL; Mardis, Elaine R ER; Griffith, Malachi M; Dunn, Gavin P GP
Publication Date: 2022-01

Variant appearance in text: ESR1: 64G>C
PubMed Link: 34610950
Variant Present in the following documents:
  • cd-21-0291_supplementary_table_3_suppst3.xlsx, sheet 32
View BVdb publication page



Understanding Colour Tuning Rules and Predicting Absorption Wavelengths of Microbial Rhodopsins by Data-Driven Machine-Learning Approach.

Scientific Reports
Karasuyama, Masayuki M; Inoue, Keiichi K; Nakamura, Ryoko R; Kandori, Hideki H; Takeuchi, Ichiro I
Publication Date: 2018-10-22

Variant appearance in text: ESR: E22Q
PubMed Link: 30349075
Variant Present in the following documents:
  • 41598_2018_33984_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Insights into the Molecular Mechanisms of Alzheimer's and Parkinson's Diseases with Molecular Simulations: Understanding the Roles of Artificial and Pathological Missense Mutations in Intrinsically Disordered Proteins Related to Pathology.

International Journal Of Molecular Sciences
Coskuner-Weber, Orkid O; Uversky, Vladimir N VN
Publication Date: 2018-01-24

Variant appearance in text: ESR: E22Q
PubMed Link: 29364151
Variant Present in the following documents:
  • Main text
  • ijms-19-00336.pdf
View BVdb publication page



E22Δ Mutation in Amyloid β-Protein Promotes β-Sheet Transformation, Radical Production, and Synaptotoxicity, But Not Neurotoxicity.

International Journal Of Alzheimer'S Disease
Suzuki, Takayuki T; Murakami, Kazuma K; Izuo, Naotaka N; Kume, Toshiaki T; Akaike, Akinori A; Nagata, Tetsu T; Nishizaki, Tomoyuki T; Tomiyama, Takami T; Takuma, Hiroshi H; Mori, Hiroshi H; Irie, Kazuhiro K
Publication Date: 2010-12-19

Variant appearance in text: ESR: E22Q
PubMed Link: 21234376
Variant Present in the following documents:
  • Main text
  • IJAD2011-431320.pdf
View BVdb publication page