Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.Q58L
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AR

NM_000044.6:p.Q58L

Associated Papers

Blood-Based Genomic Alteration Signature for Predicting Progression-Free Survival in De Novo Metastatic Hormone-Sensitive Prostate Cancer: A Real-World Study.

Wang R et al.

Cancer Research Communications, 2025

41217768 (PubMed )
Supplement: crc-25-0384_supplementary_table_s2_suppst2.xlsx › Supplementary_Table_2

Deep Sequencing Reveals Novel Mutations in Androgen Receptor-Related Genes in Prostate Cancer.

Pedroza-Torres A et al.

International Journal of Molecular Sciences, 2025

41009328 (PubMed )
Supplement: ijms-26-08758-s001.zip › Suppl_Table_1.xlsx › Hoja1

Functional and clinical insights into nuclear receptor variants for advancing precision diagnostics in male infertility.

Gaikwad AS et al.

Ebiomedicine, 2025

40882352 (PubMed )
Supplement: mmc2.pdf

A Novel Mutation in the Androgen Receptor Gene of Female Patients with 46,XY Karyotype.

Uslu IN et al.

Current Issues in Molecular Biology, 2025

Clinical relevance of somatic mutations in Chinese lung adenocarcinoma and their prognostic implications for survival.

Li T et al.

Cancer Medicine, 2024

38770632 (PubMed )
Supplement: CAM4-13-e7227-s001.xlsx › Table_S2

Implication of androgen receptor gene dysfunction in human Müllerian duct anomalies.

Li L et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2024

Small Indels in the Androgen Receptor Gene: Phenotype Implications and Mechanisms of Mutagenesis.

Ramos RM et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Metastasising ameloblastoma or ameloblastic carcinoma? A case report with mutation analyses.

Hurník P et al.

Bmc Oral Health, 2023

37573343 (PubMed )
Supplement: 12903_2023_3259_MOESM2_ESM.xlsx › 202112658_MT_SNP_Table

Mutational Screening of Androgen Receptor Gene in 8224 Men of Infertile Couples.

Rocca MS et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Genomic analysis of aggressive ductal adenocarcinoma of the prostate.

Kobayashi H et al.

Cancer Medicine, 2023

Clinical characteristics, AR gene variants, and functional domains in 64 patients with androgen insensitivity syndrome.

Liu Q et al.

Journal of Endocrinological Investigation, 2023

Cell-Free DNA Variant Sequencing Using Plasma and AR-V7 Testing of Circulating Tumor Cells in Prostate Cancer Patients.

Lieb V et al.

Cells, 2021

34831445 (PubMed )
Supplement: cells-10-03223-s001.zip › Suppl._Table_S1.xlsx › variant_score

The molecular characteristics of high-grade gastroenteropancreatic neuroendocrine neoplasms.

Venizelos A et al.

Endocrine-related Cancer, 2021

34647903 (PubMed )
Supplement: supplementary_table_4.xlsx › Targetable_in_NEC

Significant impact of circulating tumour DNA mutations on survival in metastatic breast cancer patients.

Muendlein A et al.

Scientific Reports, 2021

Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndrome.

Hage M et al.

Andrologia, 2021

Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Wu N et al.

Journal of Cellular and Molecular Medicine, 2020

32277576 (PubMed )
Supplement: JCMM-24-4931-s011.xlsx › Sheet1

Identification of gene variants in 130 Han Chinese patients with hypospadias by targeted next-generation sequencing.

Zhang W et al.

Molecular Genetics & Genomic Medicine, 2019

Whole exome sequencing identified sixty-five coding mutations in four neuroblastoma tumors.

Miller AL et al.

Scientific Reports, 2017

Is there any clinical relevant difference between non mosaic Klinefelter Syndrome patients with or without Androgen Receptor variations?

Valente U et al.

Scientific Reports, 2017

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Baetens D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27490115 (PubMed )
Supplement: gim2016118x1.zip › 20160703_supplemental_data_FINAL_160706.docx

AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity.

Akcay T et al.

Andrology, 2014

Promoter-dependent activity on androgen receptor N-terminal domain mutations in androgen insensitivity syndrome.

Tadokoro-Cuccaro R et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2014

Minor hypospadias: the "tip of the iceberg" of the partial androgen insensitivity syndrome.

Kalfa N et al.

Plos One, 2013

Identification of a novel mutation in exon 1 of androgen receptor gene in an azoospermic patient with mild androgen insensitivity syndrome: case report and literature review.

Goglia U et al.

Fertility and Sterility, 2011

Treatment-dependent androgen receptor mutations in prostate cancer exploit multiple mechanisms to evade therapy.

Steinkamp MP et al.

Cancer Research, 2009

Profiling human androgen receptor mutations reveals treatment effects in a mouse model of prostate cancer.

O'Mahony OA et al.

Molecular Cancer Research : Mcr, 2008

A novel sequence variation in the transactivation regulating domain of the androgen receptor in two infertile Finnish men.

Lund A et al.

Fertility and Sterility, 2003

A novel mutation in the transactivation-regulating domain of the androgen receptor in a patient with azoospermia.

Mirfakhraie R et al.

Journal of Andrology, 0

An insertion mutation in the androgen receptor gene in a patient with azoospermia.

Chen YH et al.

Asian Journal of Andrology, 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."