Varaico: Literature-Extracted Genetic Variants

Gene:TACR3
Variant:p.R295S
Back to variants list

TACR3

NM_001059.3:p.R295S

Associated Papers

Functional Rescue of Inactivating Mutations of the Human Neurokinin 3 Receptor Using Pharmacological Chaperones.

Anderson RC et al.

International Journal of Molecular Sciences, 2022

A novel stopgain mutation c.G992A (p.W331X) in TACR3 gene was identified in nonobstructive azoospermia by targeted next-generation sequencing.

Geng D et al.

Journal of Clinical Laboratory Analysis, 2019

TACR3 mutations disrupt NK3R function through distinct mechanisms in GnRH-deficient patients.

Noel SD et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2014

Central hypogonadotropic hypogonadism: genetic complexity of a complex disease.

Marino M et al.

International Journal of Endocrinology, 2014

G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease.

Noel SD et al.

Molecular and Cellular Endocrinology, 2011

TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood.

Gianetti E et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

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."