Varaico: Literature-Extracted Genetic Variants

Gene:LHCGR
Variant:p.T461I
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LHCGR

NM_000233.4:p.T461I

Associated Papers

Functional rescue and AI analysis of a human inactivating GPCR mutation using a small molecule.

Das D et al.

Embo Molecular Medicine, 2026

LHCGR inactivating variants: single center experience and systematic review of phenotype-genotype of 46,XY and 46,XX patients.

Barnabas R et al.

Endocrine Connections, 2024

Pharmacoperones for Misfolded Gonadotropin Receptors.

Newton CL et al.

Handbook of Experimental Pharmacology, 2018

Loss-of-Function Mutations in the Human Luteinizing Hormone Receptor Predominantly Cause Intracellular Retention.

Newton CL et al.

Endocrinology, 2016

Mutations in a novel, cryptic exon of the luteinizing hormone/chorionic gonadotropin receptor gene cause male pseudohermaphroditism.

Kossack N et al.

Plos Medicine, 2008

Theoretical study on mutation-induced activation of the luteinizing hormone receptor.

Fanelli F

Journal of Molecular Biology, 2000

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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."