Varaico: Literature-Extracted Genetic Variants

Gene:MFN1

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
1–12 of 110 variants
11 papers
NM_033540.3
p.K88T
c.263A>C
8 papers
NM_033540.3
p.T109A
c.325A>G
4 papers
NM_033540.3
p.I328V
c.982A>G
3 papers
NM_033540.3
p.E209A
c.626A>C
3 papers
NM_033540.3
p.R226Q
c.677G>A
3 papers
NM_033540.3
p.S329L
c.986C>T
3 papers
NM_033540.3
p.L691P
c.2072T>C
2 papers
NM_033540.3
p.M1T
c.2T>C
2 papers
NM_033540.3
p.K134delFs
c.401delA
2 papers
NM_033540.3
p.F202L
c.604T>C
2 papers
NM_033540.3
p.F202L
c.606T>A
2 papers
NM_033540.3
p.F202L
c.606T>G
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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."