Varaico: Literature-Extracted Genetic Variants

Gene:ADCY5
Variant:p.E634D
Back to variants list

ADCY5

NM_183357.3:p.E634D

Associated Papers

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

Yen YC et al.

Nature Structural & Molecular Biology, 2024

Isoform Specific Regulation of Adenylyl Cyclase 5 by Gβγ.

Yen YC et al.

Biorxiv : the Preprint Server for Biology, 2023

In vivo anti-tumor effect of PARP inhibition in IDH1/2 mutant MDS/AML resistant to targeted inhibitors of mutant IDH1/2.

Gbyli R et al.

Leukemia, 2022

35273342 (PubMed )
Supplement: NIHMS1782098-supplement-Supplemental_material.pdf

Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease.

Izarzugaza JMG et al.

Genome Medicine, 2020

32859249 (PubMed )
Supplement: 13073_2020_772_MOESM1_ESM.pdf

Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.

Ostrowski J et al.

Scientific Reports, 2016

28008999 (PubMed )
Supplement: srep39831-s2.xls › Table_S7

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 580.240
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."