Varaico: Literature-Extracted Genetic Variants

Gene:ADGRG6
Variant:p.V769E
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ADGRG6

NM_198569.3:p.V769E

Associated Papers

ADGRG6-related disorder: a novel mutation resulting in distal arthrogryposis and a patchy neuropathy.

Perrain V et al.

Neuromuscular Disorders : Nmd, 2025

A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9.

Shravya MS et al.

Clinical Genetics, 2023

Progesterone activates GPR126 to promote breast cancer development via the Gi pathway.

An W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

The adhesion GPCR Adgrg6 (Gpr126): Insights from the zebrafish model.

Baxendale S et al.

Genesis (new York, N.y. : 2000), 2021

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

The 17β-estradiol induced upregulation of the adhesion G-protein coupled receptor (ADGRG7) is modulated by ESRα and SP1 complex.

Hassan A et al.

Biology Open, 2019

GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability.

Hosseini M et al.

American Journal of Medical Genetics. Part A, 2019

The role of GPCRs in bone diseases and dysfunctions.

Luo J et al.

Bone Research, 2019

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.

Todd EJ et al.

Orphanet Journal of Rare Diseases, 2015

Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.

Ravenscroft G et al.

American Journal of Human Genetics, 2015

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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."