Varaico: Literature-Extracted Genetic Variants

Gene:MFN1
Variant:p.C156S

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.C156S
c.467G>C
Surrounding Variants
1 paper
NM_033540.3
p.C156S
c.466T>A
1 paper
NM_033540.3
p.R159C
c.475C>T
1 paper
NM_033540.3
p.A165V
c.494C>T
1 paper
NM_033540.3
p.C167Y
c.500G>A
1 paper
NM_033540.3
p.H144R
c.431A>G
1 paper
NM_033540.3
p.A143V
c.428C>T
1 paper
NM_033540.3
p.D173A
c.518A>C
1 paper
NM_033540.3
p.D178A
c.533A>C
1 paper
NM_033540.3
p.S179Splc
c.537-1G>A
1 paper
NM_033540.3
p.D198N
c.592G>A
2 papers
NM_033540.3
p.F202L
c.604T>C
2 papers
NM_033540.3
p.F202L
c.606T>A
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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."