Varaico: Literature-Extracted Genetic Variants

Gene:MFN1
Variant:p.K134delFs

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.K134delFs
c.401delA
Surrounding Variants
1 paper
NM_033540.3
p.Y124_G129delFs
c.372_387del16
8 papers
NM_033540.3
p.T109A
c.325A>G
1 paper
NM_033540.3
p.I108T
c.323T>C
1 paper
NM_033540.3
p.H107R
c.320A>G
1 paper
NM_033540.3
p.G106D
c.317G>A
1 paper
NM_033540.3
p.G106S
c.316G>A
1 paper
NM_033540.3
p.P102L
c.305C>T
1 paper
NM_033540.3
p.K99T
c.296A>C
1 paper
NM_033540.3
p.L96S
c.287T>C
11 papers
NM_033540.3
p.K88T
c.263A>C
1 paper
NM_033540.3
p.K88R
c.263A>G
1 paper
NM_033540.3
p.A143V
c.428C>T
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