Varaico: Literature-Extracted Genetic Variants

Gene:MFN1
Variant:p.C418S

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.C418S
c.1253G>C
Surrounding Variants
1 paper
NM_033540.3
p.C418S
c.1252T>A
1 paper
NM_033540.3
p.R419Q
c.1256G>A
1 paper
NM_033540.3
p.D415H
c.1243G>C
1 paper
NM_033540.3
p.C411S
c.1232G>C
1 paper
NM_033540.3
p.C411S
c.1231T>A
1 paper
NM_033540.3
p.S443_E444Splc
c.1329+85T>G
1 paper
NM_033540.3
p.E403K
c.1207G>A
1 paper
NM_033540.3
p.E400K
c.1198G>A
1 paper
NM_033540.3
p.V394A
c.1181T>C
1 paper
NM_033540.3
p.V394I
c.1180G>A
1 paper
NM_033540.3
p.Y368C
c.1103A>G
1 paper
NM_033540.3
p.D463N
c.1387G>A
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