Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.R531Q
Back to variants list

TSHR

NM_000369.5:p.R531Q

Associated Papers

Predicting Pathogenicity of TSHR Missense Variants of Uncertain Significance: An Integrative Computational Study.

Hajali TA et al.

International Journal of Molecular Sciences, 2026

41684033 (PubMed )
Supplement: ijms-27-01614-s001.zip › ijms-4117947-supplementary.pdf

Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model.

Makkonen K et al.

Jci Insight, 2024

Actionable Molecular Alterations Are Revealed in Majority of Advanced Non-Small Cell Lung Cancer Patients by Genomic Tumor Profiling at Progression after First Line Treatment.

Frank MS et al.

Cancers, 2021

35008297 (PubMed )
Supplement: cancers-14-00132-s001.zip › Supplementary_Table_S1.xlsx › Overview_ver2

Current loss-of-function mutations in the thyrotropin receptor gene: when to investigate, clinical effects, and treatment.

Cassio A et al.

Journal of Clinical Research in Pediatric Endocrinology, 2013

TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis.

Cangul H et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012

An intracellular loop (IL2) residue confers different basal constitutive activities to the human lutropin receptor and human thyrotropin receptor through structural communication between IL2 and helix 6, via helix 3.

Feng X et al.

Endocrinology, 2008

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."