Varaico: Literature-Extracted Genetic Variants

Gene:COPA
Variant:p.E241A
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COPA

NM_004371.4:p.E241A

Associated Papers

STING: a multifaced player in cellular homeostasis.

Song K et al.

Human Molecular Genetics, 2025

COPA syndrome caused by a novel p.Arg227Cys COPA gene variant.

Zheng Y et al.

Molecular Genetics & Genomic Medicine, 2024

COPA Syndrome from Diagnosis to Treatment: A Clinician's Guide.

Simchoni N et al.

Rheumatic Diseases Clinics of North America, 2023

A Novel Mutation c.841C>T in COPA Syndrome of an 11-Year-Old Boy: A Case Report and Short Literature Review.

Zeng J et al.

Frontiers in Pediatrics, 2021

Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling.

Lepelley A et al.

The Journal of Experimental Medicine, 2020

An unprecedented COPA gene mutation in two patients in the same family: comparative clinical analysis of newly reported patients with other known COPA gene mutations.

Patwardhan A et al.

Pediatric Rheumatology Online Journal, 2019

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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."