Varaico: Literature-Extracted Genetic Variants

Gene:PRKG2
Variant:p.V470G
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PRKG2

NM_006259.3:p.V470G

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

A nonsense mutation in the PRKG2 gene in dalmatian dogs with chondrodysplasia.

Mäkeläinen S et al.

Plos One, 2025

Case Report: Dual pathogenic mechanism of a PRKG2 missense variant underlies an attenuated phenotype of acromesomelic dysplasia.

Akimova D et al.

Frontiers in Genetics, 2025

Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant.

Akgun-Dogan O et al.

European Journal of Human Genetics : Ejhg, 2024

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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."