Varaico: Literature-Extracted Genetic Variants

Gene:SARM1
Variant:p.E596K
Back to variants list

SARM1

NM_015077.4:p.E596K

Associated Papers

SARM1 participates in axonal degeneration and mitochondrial dysfunction in prion disease.

Lai MY et al.

Neural Regeneration Research, 2022

SARM1 is a metabolic sensor activated by an increased NMN/NAD+ ratio to trigger axon degeneration.

Figley MD et al.

Neuron, 2021

Structural basis for SARM1 inhibition and activation under energetic stress.

Sporny M et al.

Elife, 2020

The SARM1 Toll/Interleukin-1 Receptor Domain Possesses Intrinsic NAD+ Cleavage Activity that Promotes Pathological Axonal Degeneration.

Essuman K et al.

Neuron, 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."