Varaico: Literature-Extracted Genetic Variants

Gene:ESR1
Variant:p.G160C
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ESR1

NM_000125.4:p.G160C

Associated Papers

Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.

Berg T et al.

Neoplasia (new York, N.y.), 2025

40121945 (PubMed )
Supplement: mmc5.xlsx › Ark1

Exploring pathogenic SNPs and estrogen receptor alpha interactions in breast cancer: An in silico approach.

Alamri AM et al.

Heliyon, 2024

39286133 (PubMed )
Supplement: mmc1.docx

Acquired mutations and transcriptional remodeling in long-term estrogen-deprived locoregional breast cancer recurrences.

Priedigkeit N et al.

Breast Cancer Research : Bcr, 2021

33407744 (PubMed )
Supplement: 13058_2020_1379_MOESM2_ESM.xlsx › S4

Leveraging Human Genetics to Identify Safety Signals Prior to Drug Marketing Approval and Clinical Use.

Jerome RN et al.

Drug Safety, 2020

Multimodal Targeted Deep Sequencing of Circulating Tumor Cells and Matched Cell-Free DNA Provides a More Comprehensive Tool to Identify Therapeutic Targets in Metastatic Breast Cancer Patients.

Keup C et al.

Cancers, 2020

32349306 (PubMed )
Supplement: cancers-12-01084-s001.zip › supplementary › Table_S3.xlsx › Table_S3

High Frequency of ERBB2 Activating Mutations in Invasive Lobular Breast Carcinoma with Pleomorphic Features.

Rosa-Rosa JM et al.

Cancers, 2019

30641862 (PubMed )
Supplement: cancers-11-00074-s001.zip › Cancers-399636-Supplementary_Tables.xlsx › Table_S5

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A091-01A.domain

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1464.524

Investigating the phenotypes and genotypes of breast cancer in women with African ancestry: the need for more genetic epidemiology.

Hayanga AJ et al.

The Surgical Clinics of North America, 2007

Mutational analysis of the estrogen receptor-alpha gene in familial ovarian cancer.

Wu HJ et al.

The Journal of Obstetrics and Gynaecology Research, 2005

Polymorphisms in the estrogen receptor-alpha gene and breast cancer risk.

Kang HJ et al.

Cancer Letters, 2002

Scanning of estrogen receptor alpha (ERalpha) and thyroid hormone receptor alpha (TRalpha) genes in patients with psychiatric diseases: four missense mutations identified in ERalpha gene.

Feng J et al.

American Journal of Medical Genetics, 2001

Screening of 229 family cancer patients for a germline estrogen receptor gene (ESR) base mutation.

Zelada-Hedman M et al.

Human Mutation, 1997

Screening for ESR mutations in breast and ovarian cancer patients.

Anderson TI et al.

Human Mutation, 1997

[ESR1 gene allelic polymorphism analysis in population of Ukraine].

Livshyts' GB et al.

Tsitologiia I Genetika, 0

[A population genetics study of the allelic polymorphism in the hypervariable region of the apolipoprotein B gene in the population of different regions of Ukraine].

Kravchenko SA et al.

Tsitologiia I Genetika, 0

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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."