Varaico: Literature-Extracted Genetic Variants

Gene:ESR1
Variant:p.D538N
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ESR1

NM_000125.4:p.D538N

Associated Papers

Diagnostic utility of ESR1 mutation detection in liquid biopsy of metastatic breast cancer patients.

Sandbothe M et al.

Virchows Archiv : an International Journal of Pathology, 2025

39392509 (PubMed )
Supplement: 428_2024_3942_MOESM2_ESM.xlsx › liquid_biopsy

Quantitative Evaluation of the Transcriptional Activity of Steroid Hormone Receptor Mutants and Variants Using a Single Vector With Two Reporters and a Receptor Expression Cassette.

Ji H et al.

Frontiers in Endocrinology, 2020

Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites.

Nassar AH et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019

30593515 (PubMed )
Supplement: 10780432ccr183147-sup-209386_2_supp_5192871_ptz639.xlsx › S1.3_Raw_SNV_and_small_indels

Targeted mutation detection in breast cancer using MammaSeq™.

Smith NG et al.

Breast Cancer Research : Bcr, 2019

30736836 (PubMed )
Supplement: 13058_2019_1102_MOESM7_ESM.xlsx › Solid_Tumors

Estrogen receptor-alpha as a predictive biomarker in endometrioid endometrial cancer.

Backes FJ et al.

Gynecologic Oncology, 2016

Association of vascular endothelial growth factor--a gene polymorphisms and haplotypes with breast cancer metastases.

Langsenlehner U et al.

Acta Oncologica (stockholm, Sweden), 2015

ESR1 ligand-binding domain mutations in hormone-resistant breast cancer.

Toy W et al.

Nature Genetics, 2013

24185512 (PubMed )
Supplement: NIHMS531250-supplement-1.pdf

Genetic polymorphisms in the vascular endothelial growth factor gene and breast cancer risk. The Austrian "tumor of breast tissue: incidence, genetics, and environmental risk factors" study.

Langsenlehner U et al.

Breast Cancer Research and Treatment, 2008

Coactivation of estrogen receptor alpha (ER alpha)/Sp1 by vitamin D receptor interacting protein 150 (DRIP150).

Lee J et al.

Archives of Biochemistry and Biophysics, 2007

T:G mismatch-specific thymine-DNA glycosylase potentiates transcription of estrogen-regulated genes through direct interaction with estrogen receptor alpha.

Chen D et al.

The Journal of Biological Chemistry, 2003

Three-dimensional models of estrogen receptor ligand binding domain complexes, based on related crystal structures and mutational and structure-activity relationship data.

Wurtz JM et al.

Journal of Medicinal Chemistry, 1998

Enhancement of estrogen receptor transcriptional activity by the coactivator GRIP-1 highlights the role of activation function 2 in determining estrogen receptor pharmacology.

Norris JD et al.

The Journal of Biological Chemistry, 1998

Hormone binding and transcription activation by estrogen receptors: analyses using mammalian and yeast systems.

Katzenellenbogen BS et al.

The Journal of Steroid Biochemistry and Molecular Biology, 1993

William L. McGuire Memorial Symposium. Estrogen receptors: ligand discrimination and antiestrogen action.

Katzenellenbogen BS et al.

Breast Cancer Research and Treatment, 1993

Human estrogen receptor mutants with altered estrogen and antiestrogen ligand discrimination.

Pakdel F et al.

The Journal of Biological Chemistry, 1992

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."