Varaico: Literature-Extracted Genetic Variants

Gene:ACTG2
Variant:p.D185Y
Back to variants list

ACTG2

NM_001615.4:p.D185Y

Associated Papers

Actg2D245G Mutation Causes Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome by Impairing Smooth Muscle Contractility.

Zhou J et al.

Journal of Pediatric Surgery, 2025

Heterozygous Actg2R257C mice mimic the phenotype of megacystis microcolon intestinal hypoperistalsis syndrome.

Cai H et al.

Neurogastroenterology and Motility, 2023

Variants in the Enteric Smooth Muscle Actin γ-2 Cause Pediatric Intestinal Pseudo-obstruction in Chinese Patients.

Wei Z et al.

Journal of Pediatric Gastroenterology and Nutrition, 2021

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."