Varaico: Literature-Extracted Genetic Variants

Gene:ADCY5
Variant:p.R603C
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ADCY5

NM_183357.3:p.R603C

Associated Papers

Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.

Hennick K et al.

Biorxiv : the Preprint Server for Biology, 2025

40950053 (PubMed )
Supplement: media-31.xlsx › sex-gene-DNMs

Structure of adenylyl cyclase 5 in complex with Gβγ offers insights into ADCY5-related dyskinesia.

Yen YC et al.

Nature Structural & Molecular Biology, 2024

Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.

Li K et al.

Ebiomedicine, 2024

38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4

Isoform Specific Regulation of Adenylyl Cyclase 5 by Gβγ.

Yen YC et al.

Biorxiv : the Preprint Server for Biology, 2023

Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Wang T et al.

Ebiomedicine, 2022

35665681 (PubMed )
Supplement: mmc24.xlsx › Sheet1

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_

Systematic reconstruction of autism biology from massive genetic mutation profiles.

Luo W et al.

Science Advances, 2018

29651456 (PubMed )
Supplement: 1701799_SM.pdf

De novo genic mutations among a Chinese autism spectrum disorder cohort.

Wang T et al.

Nature Communications, 2016

27824329 (PubMed )
Supplement: ncomms13316-s7.xlsx › Supplementary_Data_6

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

O'Roak BJ et al.

Nature, 2012

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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."