Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.V226E
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AVPR2

NM_000054.7:p.V226E

Associated Papers

Novel and recurrent variants in AVPR2 in 19 families with X-linked congenital nephrogenic diabetes insipidus.

Joshi S et al.

European Journal of Pediatrics, 2018

How genetic errors in GPCRs affect their function: Possible therapeutic strategies.

Stoy H et al.

Genes & Diseases, 2015

26229975 (PubMed )
Supplement: mmc1.docx

Derlin-1 and p97/valosin-containing protein mediate the endoplasmic reticulum-associated degradation of human V2 vasopressin receptors.

Schwieger I et al.

Molecular Pharmacology, 2008

Pharmacological chaperones in nephrogenic diabetes insipidus: possibilities for clinical application.

Robben JH et al.

Biodrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy, 2007

Disease-causing V(2) vasopressin receptors are retained in different compartments of the early secretory pathway.

Hermosilla R et al.

Traffic (copenhagen, Denmark), 2004

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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."