Varaico: Literature-Extracted Genetic Variants

Gene:MFN1
Variant:p.L691P

MFN1

197 papers

RefSeq Summary

The protein encoded by this gene is a mediator of mitochondrial fusion. This protein and mitofusin 2 are homologs of the Drosophila protein fuzzy onion (Fzo). They are mitochondrial membrane proteins ...

Pfam Domains

Dynamin_Naa 78–238UCSCDynamin family
Fzo_mitofusinaa 575–735UCSCfzo-like conserved region

Gene Aliases

HGNC Name

mitofusin 1

HGNC Alias Symbol

FLJ20693

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_033540.3
p.L691P
c.2072T>C
Surrounding Variants
1 paper
NM_033540.3
p.E701*
c.2101G>T
1 paper
NM_033540.3
p.C681S
c.2042G>C
1 paper
NM_033540.3
p.C681S
c.2041T>A
1 paper
NM_033540.3
p.K707N
c.2121A>C
1 paper
NM_033540.3
p.K707N
c.2121A>T
1 paper
NM_033540.3
p.L734V
c.2200C>G
1 paper
NM_033540.3
p.N664T
c.1991A>C
1 paper
NM_033540.3
p.Q645*
c.1933C>T
1 paper
NM_033540.3
p.A641D
c.1922C>A
1 paper
NM_033540.3
p.A641V
c.1922C>T
1 paper
NM_033540.3
p.W612R
c.1834T>A
1 paper
NM_033540.3
p.W612R
c.1834T>C
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."