Varaico: Literature-Extracted Genetic Variants

Gene:MFN1
Variant:p.S179Splc

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.S179Splc
c.537-1G>A
Surrounding Variants
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
2 papers
NM_033540.3
p.F202L
c.606T>G
1 paper
NM_033540.3
p.V205D
c.614T>A
1 paper
NM_033540.3
p.S208_T215del0
c.624_644del21
1 paper
NM_033540.3
p.S208F
c.623C>T
3 papers
NM_033540.3
p.E209A
c.626A>C
1 paper
NM_033540.3
p.L212V
c.634C>G
1 paper
NM_033540.3
p.L212L
c.634C>T
2 papers
NM_033540.3
p.T215M
c.644C>T
1 paper
NM_033540.3
p.K222Q
c.664A>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."