Varaico: Literature-Extracted Genetic Variants

Gene:HCRTR2
Variant:p.I293V
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HCRTR2

NM_001384272.1:p.I293V

Associated Papers

The curious case of a heterozygous loss-of-function PSEN1 variant associated with early-onset Alzheimer's disease.

Sanjuan-Ruiz I et al.

Molecular Neurodegeneration Advances, 2025

41127441 (PubMed )
Supplement: 44477_2025_4_MOESM2_ESM.xlsx › Sheet1

Pharmacological Characteristics of Porcine Orexin 2 Receptor and Mutants.

Liu M et al.

Frontiers in Endocrinology, 2020

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism
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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."