Varaico: Literature-Extracted Genetic Variants

Gene:ADCY4
Variant:p.E453V
Back to variants list

ADCY4

NM_001198568.2:p.E453V

Associated Papers

Transcriptome Meta-Analysis Confirms the Hidradenitis Suppurativa Pathogenic Triad: Upregulated Inflammation, Altered Epithelial Organization, and Dysregulated Metabolic Signaling.

de Oliveira ASLE et al.

Biomolecules, 2022

A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4.

Mohamadian M et al.

Journal of Clinical Laboratory Analysis, 2020

33079427 (PubMed )
Supplement: JCLA-34-e23484-s001.xlsx › Sheet2

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Germline_SNPs

Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death.

Bagnall RD et al.

Bmc Medical Genetics, 2014

25224718 (PubMed )
Supplement: 12881_2014_99_MOESM2_ESM.xlsx › Supplementary_Table_2
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."