Varaico: Literature-Extracted Genetic Variants

Gene:CYP17A1
Variant:p.H46H
Back to variants list

CYP17A1

NM_000102.4:p.H46H

Associated Papers

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

Refractory hypokalemia with sexual dysplasia and infertility caused by 17α-hydroxylase deficiency and triple X syndrome: A case report.

Yao JT et al.

Open Life Sciences, 2023

Allele-specific and multiplex PCR based tools for cost-effective and comprehensive genetic testing in Congenital Adrenal Hyperplasia.

Ravichandran L et al.

Methodsx, 2022

Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum.

Fernandez-Rozadilla C et al.

Cancers, 2019

31366136 (PubMed )
Supplement: cancers-11-01081-s001.pdf

Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.

Suarez-Kelly LP et al.

Cold Spring Harbor Molecular Case Studies, 2018

29449315 (PubMed )
Supplement: supp_mcs.a002352_Supplemental_Table_3.xls › SuppTable3.modified.20171216

Discordant Genotypic Sex and Phenotype Variations in Two Spanish Siblings with 17α-Hydroxylase/17,20-Lyase Deficiency Carrying the Most Prevalent Mutated CYP17A1 Alleles of Brazilian Patients.

Fernández-Cancio M et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2017

Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer.

Disciglio V et al.

Chinese Journal of Cancer, 2016

27267075 (PubMed )
Supplement: 40880_2016_115_MOESM5_ESM.xlsx › Table_S5

Profiling genetic variation along the androgen biosynthesis and metabolism pathways implicates several single nucleotide polymorphisms and their combinations as prostate cancer risk factors.

Mononen N et al.

Cancer Research, 2006

Comprehensive evaluation of the association between prostate cancer and genotypes/haplotypes in CYP17A1, CYP3A4, and SRD5A2.

Loukola A et al.

European Journal of Human Genetics : Ejhg, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."