Varaico: Literature-Extracted Genetic Variants

Gene:MFN1
Variant:p.Q330R

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
2 papers
NM_033540.3
p.Q330R
c.989A>G
Surrounding Variants
3 papers
NM_033540.3
p.S329L
c.986C>T
1 paper
NM_033540.3
p.S329P
c.985T>C
4 papers
NM_033540.3
p.I328V
c.982A>G
1 paper
NM_033540.3
p.C327S
c.980G>C
2 papers
NM_033540.3
p.K336N
c.1008G>C
2 papers
NM_033540.3
p.K336N
c.1008G>T
2 papers
NM_033540.3
p.K345R
c.1034A>G
1 paper
NM_033540.3
p.K352R
c.1055A>G
1 paper
NM_033540.3
p.E325_E326Splc
c.976-194T>C
1 paper
NM_033540.3
p.Y368C
c.1103A>G
1 paper
NM_033540.3
p.V394I
c.1180G>A
1 paper
NM_033540.3
p.V394A
c.1181T>C
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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."