Varaico: Literature-Extracted Genetic Variants

Gene:COMMD1
Variant:p.T174M
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COMMD1

NM_152516.4:p.T174M

Associated Papers

Retromer retrieves the Wilson disease protein ATP7B from endolysosomes in a copper-dependent manner.

Das S et al.

Journal of Cell Science, 2020

Evaluation of COMMD1 in copper toxicosis in Labrador retrievers and Dobermans.

Wu X et al.

Veterinary Journal (london, England : 1997), 2020

Association of Variants in the CP, ATOX1 and COMMD1 Genes with Wilson Disease Symptoms in Latvia.

Zarina A et al.

Balkan Journal of Medical Genetics : Bjmg, 2019

COMMD1 and PtdIns(4,5)P2 interaction maintain ATP7B copper transporter trafficking fidelity in HepG2 cells.

Stewart DJ et al.

Journal of Cell Science, 2019

A glimpse into the regulation of the Wilson disease protein, ATP7B, sheds light on the complexity of mammalian apical trafficking pathways.

Gupta A et al.

Metallomics : Integrated Biometal Science, 2018

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s2.xlsx › S6T2

Canine models of copper toxicosis for understanding mammalian copper metabolism.

Fieten H et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2012

A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient.

Gupta A et al.

Behavioral and Brain Functions : Bbf, 2010

Wilson's Disease Update: An Indian Perspective.

Kumar N et al.

Annals of Indian Academy of Neurology, 0

35002122 (PubMed )
Supplement: AIAN-24-652_Suppl1.pdf
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