Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.R149C
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AVPR2

NM_000054.7:p.R149C

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._1j

Chromosome Microarray Analysis and Exome Sequencing: Implementation in Prenatal Diagnosis of Fetuses with Digestive System Malformations.

Wang Y et al.

Genes, 2023

37895220 (PubMed )
Supplement: genes-14-01872-s001.zip › Table_S2.pdf
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