Varaico: Literature-Extracted Genetic Variants

Gene:ATG5
Variant:p.K130R
Back to variants list

ATG5

NM_004849.4:p.K130R

Associated Papers

STAR/STARD1: A mitochondrial intermembrane space cholesterol shuttle degraded through mitophagy.

Koganti PP et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

STAR/STARD1: a mitochondrial intermembrane space cholesterol shuttle degraded through mitophagy.

Koganti PP et al.

Biorxiv : the Preprint Server for Biology, 2025

Mitochondrial bioenergetics stimulates autophagy for pathological MAPT/Tau clearance in tauopathy neurons.

Jia N et al.

Autophagy, 2025

The ATG5 interactome links clathrin-mediated vesicular trafficking with the autophagosome assembly machinery.

Baines K et al.

Autophagy Reports, 2022

35449600 (PubMed )
Supplement: KAUO_A_2042054_SM3247.zip › Supplementary_information › Baines_et_al_Supplemental_Figures.docx

Nuclear translocation of ATG5 induces DNA mismatch repair deficiency (MMR-D)/microsatellite instability (MSI) via interacting with Mis18α in colorectal cancer.

Sun SY et al.

British Journal of Pharmacology, 2021

BECN1 promotes radiation-induced G2/M arrest through regulation CDK1 activity: a potential role for autophagy in G2/M checkpoint.

Huang R et al.

Cell Death Discovery, 2020

ATG5 cancer mutations and alternative mRNA splicing reveal a conjugation switch that regulates ATG12-ATG5-ATG16L1 complex assembly and autophagy.

Wible DJ et al.

Cell Discovery, 2019

Genetic inhibition of autophagy promotes p53 loss-of-heterozygosity and tumorigenesis.

Lee E et al.

Oncotarget, 2016

Atg5-mediated autophagy deficiency in proximal tubules promotes cell cycle G2/M arrest and renal fibrosis.

Li H et al.

Autophagy, 2016

Interaction between FIP200 and ATG16L1 distinguishes ULK1 complex-dependent and -independent autophagy.

Gammoh N et al.

Nature Structural & Molecular Biology, 2013

Rab5 modulates aggregation and toxicity of mutant huntingtin through macroautophagy in cell and fly models of Huntington disease.

Ravikumar B et al.

Journal of Cell Science, 2008

Mouse Apg16L, a novel WD-repeat protein, targets to the autophagic isolation membrane with the Apg12-Apg5 conjugate.

Mizushima N et al.

Journal of Cell Science, 2003

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."