Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.R1224Q
Back to variants list

ATP7B

NM_000053.4:p.R1224Q

Associated Papers

Mutational and transcriptional profiling of cuproptosis-associated genes in amyotrophic lateral sclerosis.

He D et al.

Genes & Diseases, 2025

39314515 (PubMed )
Supplement: mmc1.xlsx › Table_S4

Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach.

Jang JH et al.

Journal of Human Genetics, 2017

Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.

Dulak AM et al.

Nature Genetics, 2013

23525077 (PubMed )
Supplement: NIHMS474888-supplement-5.xlsx › S._Table_15
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."