Varaico: Literature-Extracted Genetic Variants

Gene:MFN1
Variant:p.L691P
Back to variants list

MFN1

NM_033540.3:p.L691P

Associated Papers

Defective nucleotide-dependent assembly and membrane fusion in Mfn2 CMT2A variants improved by Bax.

Samanas NB et al.

Life Science Alliance, 2020

A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family.

Dankwa L et al.

Journal of the Peripheral Nervous System : Jpns, 2018

Mitochondrial dynamics in mammalian health and disease.

Liesa M et al.

Physiological Reviews, 2009

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."