Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.W296*
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AVPR2

NM_000054.7:p.W296*

Associated Papers

A small molecule stabilizer rescues the surface expression of nearly all missense variants in a GPCR.

Mighell TL et al.

Nature Structural & Molecular Biology, 2025

40983772 (PubMed )
Supplement: 41594_2025_1659_MOESM4_ESM.xlsx › Fig._1b

Pilot clinical trial and phenotypic analysis in chemotherapy-pretreated, metastatic triple-negative breast cancer patients treated with oral TAK-228 and TAK-117 (PIKTOR) to increase DNA damage repair deficiency followed by cisplatin and nab paclitaxel.

Lang JD et al.

Biomarker Research, 2023

37491309 (PubMed )
Supplement: 40364_2023_511_MOESM16_ESM.xlsx › 11JZ

A novel deletion mutation of the arginine vasopressin receptor 2 gene in a Japanese infant with nephrogenic diabetes insipidus.

Daitsu T et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2014

AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.

Spanakis E et al.

Journal of Cellular Physiology, 2008

Correlation between AVPR2 mutations and urinary AQP2 excretion in patients with nephrogenic diabetes insipidus.

Kotnik P et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2007

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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."