Varaico: Literature-Extracted Genetic Variants

Gene:MFN1
Variant:p.G32R

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
1 paper
NM_033540.3
p.G32R
c.94G>A
Surrounding Variants
1 paper
NM_033540.3
p.H34R
c.101A>G
1 paper
NM_033540.3
p.E3del1
c.7_8delGAA
2 papers
NM_033540.3
p.M1T
c.2T>C
1 paper
NM_033540.3
p.P43L
c.128C>T
1 paper
NM_033540.3
p.D53Y
c.157G>T
1 paper
NM_033540.3
p.V55A
c.164T>C
1 paper
NM_033540.3
p.E69*
c.205G>T
1 paper
NM_033540.3
p.L71P
c.212T>C
1 paper
NM_033540.3
p.R73Q
c.218G>A
1 paper
NM_033540.3
p.M76T
c.227T>C
1 paper
NM_033540.3
p.A79T
c.235G>A
1 paper
NM_033540.3
p.R83W
c.247A>T
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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."