ESR1 c.1181G>A ;(p.R394H)

Variant ID: 6-152332875-G-A

NM_000125.3(ESR1):c.1181G>A;(p.R394H)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Bioinformatic Evaluation of Features on Cis-regulatory Elements at 6q25.1.

Bioinformatics And Biology Insights
Sreekar, N N; Shrestha, Smeeta S
Publication Date: 2023

Variant appearance in text: rs1131692059
PubMed Link: 37124129
Variant Present in the following documents:
  • Main text
  • 10.1177_11779322231167971.pdf
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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: 1181G>A; R394H
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



The circulating tumor DNA (ctDNA) alteration level predicts therapeutic response in metastatic breast cancer: Novel prognostic indexes based on ctDNA.

Breast (Edinburgh, Scotland)
Liu, Binliang B; Hu, Zheyu Z; Ran, Jialu J; Xie, Ning N; Tian, Can C; Tang, Yu Y; Ouyang, Quchang Q
Publication Date: 2022-10

Variant appearance in text: ESR1: R394H
PubMed Link: 35926241
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Biotechnological Agents for Patients With Tumor Necrosis Factor Receptor Associated Periodic Syndrome-Therapeutic Outcome and Predictors of Response: Real-Life Data From the AIDA Network.

Frontiers In Medicine
Vitale, Antonio A; Obici, Laura L; Cattalini, Marco M; Lopalco, Giuseppe G; Merlini, Giampaolo G; Ricco, Nicola N; Soriano, Alessandra A; La Torre, Francesco F; Verrecchia, Elena E; Insalaco, Antonella A; Dagna, Lorenzo L; Jaber, Masen Abdel MA; Montin, Davide D; Emmi, Giacomo G; Ciarcia, Luisa L; Barneschi, Sara S; Parronchi, Paola P; Ruscitti, Piero P; Maggio, Maria Cristina MC; Viapiana, Ombretta O; Sota, Jurgen J; Gaggiano, Carla C; Giacomelli, Roberto R; Sicignano, Ludovico Luca LL; Manna, Raffaele R; Renieri, Alessandra A; Lo Rizzo, Caterina C; Frediani, Bruno B; Rigante, Donato D; Cantarini, Luca L
Publication Date: 2021

Variant appearance in text: ESR: R394H
PubMed Link: 34307404
Variant Present in the following documents:
  • Main text
  • fmed-08-668173.pdf
View BVdb publication page



A mutant form of ERα associated with estrogen insensitivity affects the coupling between ligand binding and coactivator recruitment.

Science Signaling
Li, Yin Y; Coons, Laurel A LA; Houtman, René R; Carlson, Kathryn E KE; Martin, Teresa A TA; Mayne, Christopher G CG; Melchers, Diana D; Jefferson, Tanner B TB; Ramsey, J Tyler JT; Katzenellenbogen, John A JA; Korach, Kenneth S KS
Publication Date: 2020-09-22

Variant appearance in text: ESR1: R394H
PubMed Link: 32963012
Variant Present in the following documents:
  • Main text
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: R394H
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: ESR1: R394H
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



ESR1 Mutations Associated With Estrogen Insensitivity Syndrome Change Conformation of Ligand-Receptor Complex and Altered Transcriptome Profile.

Endocrinology
Li, Yin Y; Hamilton, Katherine J KJ; Perera, Lalith L; Wang, Tianyuan T; Gruzdev, Artiom A; Jefferson, Tanner B TB; Zhang, Austin X AX; Mathura, Emilie E; Gerrish, Kevin E KE; Wharey, Laura L; Martin, Negin P NP; Li, Jian-Liang JL; Korach, Kenneth S KS
Publication Date: 2020-06-01

Variant appearance in text: ESR1: R394H
PubMed Link: 32242619
Variant Present in the following documents:
  • Main text
View BVdb publication page



Estrogens in Human Male Gonadotropin Secretion and Testicular Physiology From Infancy to Late Puberty.

Frontiers In Endocrinology
Guercio, Gabriela G; Saraco, Nora N; Costanzo, Mariana M; Marino, Roxana R; Ramirez, Pablo P; Berensztein, Esperanza E; Rivarola, Marco A MA; Belgorosky, Alicia A
Publication Date: 2020

Variant appearance in text: ESR1: Arg394His
PubMed Link: 32158430
Variant Present in the following documents:
  • Main text
  • fendo-11-00072.pdf
View BVdb publication page



Long-Term Follow-Up and Treatment of a Female With Complete Estrogen Insensitivity.

The Journal Of Clinical Endocrinology And Metabolism
Brakta, Soumia S; Chorich, Lynn P LP; Kim, Hyung-Goo HG; Coons, Laurel A LA; Katzenellenbogen, John A JA; Hall, Janet E JE; Korach, Kenneth S KS; Layman, Lawrence C LC
Publication Date: 2020-05-01

Variant appearance in text: ESR1: R394H
PubMed Link: 32152632
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic disorders of nuclear receptors.

The Journal Of Clinical Investigation
Achermann, John C JC; Schwabe, John J; Fairall, Louise L; Chatterjee, Krishna K
Publication Date: 2017-04-03

Variant appearance in text: ESR1: Arg394His
PubMed Link: 28368288
Variant Present in the following documents:
  • Main text
View BVdb publication page



Familial Multiplicity of Estrogen Insensitivity Associated With a Loss-of-Function ESR1 Mutation.

The Journal Of Clinical Endocrinology And Metabolism
Bernard, Valérie V; Kherra, Sakina S; Francou, Bruno B; Fagart, Jérôme J; Viengchareun, Say S; Guéchot, Jérôme J; Ladjouze, Asmahane A; Guiochon-Mantel, Anne A; Korach, Kenneth S KS; Binart, Nadine N; Lombès, Marc M; Christin-Maitre, Sophie S
Publication Date: 2017-01-01

Variant appearance in text: ESR1: 1181G>A; R394H
PubMed Link: 27754803
Variant Present in the following documents:
  • Main text
View BVdb publication page



Protein-structure-guided discovery of functional mutations across 19 cancer types.

Nature Genetics
Niu, Beifang B; Scott, Adam D AD; Sengupta, Sohini S; Bailey, Matthew H MH; Batra, Prag P; Ning, Jie J; Wyczalkowski, Matthew A MA; Liang, Wen-Wei WW; Zhang, Qunyuan Q; McLellan, Michael D MD; Sun, Sam Q SQ; Tripathi, Piyush P; Lou, Carolyn C; Ye, Kai K; Mashl, R Jay RJ; Wallis, John J; Wendl, Michael C MC; Chen, Feng F; Ding, Li L
Publication Date: 2016-08

Variant appearance in text: ESR1: Arg394His
PubMed Link: 27294619
Variant Present in the following documents:
  • Main text
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: R394H
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: ESR1: R394H
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page