Varaico: Literature-Extracted Genetic Variants

Gene:AFG3L2
Variant:p.P688T
Back to variants list

AFG3L2

NM_006796.3:p.P688T

Associated Papers

Multifaceted Roles of AFG3L2, a Mitochondrial ATPase in Relation to Neurological Disorders.

Ghosh Dastidar R et al.

Molecular Neurobiology, 2024

ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.

Caporali L et al.

Annals of Neurology, 2020

Unique Structural Features of the Mitochondrial AAA+ Protease AFG3L2 Reveal the Molecular Basis for Activity in Health and Disease.

Puchades C et al.

Molecular Cell, 2019

Neurocognitive Characterization of an SCA28 Family Caused by a Novel AFG3L2 Gene Mutation.

Szpisjak L et al.

Cerebellum (london, England), 2017

SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy.

Svenstrup K et al.

Cerebellum (london, England), 2017

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."