Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.K109T

MFN2

940 papers

RefSeq Summary

This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in ...

Pfam Domains

Dynamin_Naa 99–259UCSCDynamin family
Fzo_mitofusinaa 594–754UCSCfzo-like conserved region

Gene Aliases

HGNC Name

mitofusin 2

HGNC Alias Symbols

CPRP1; KIAA0214; CMT2A2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_014874.4
p.K109T
c.326A>C
Surrounding Variants
7 papers
NM_014874.4
p.K109R
c.326A>G
1 paper
NM_014874.4
p.K109K
c.327G>A
1 paper
NM_014874.4
p.S110C
c.328A>T
1 paper
NM_014874.4
p.S110N
c.329G>A
1 paper
NM_014874.4
p.S110T
c.329G>C
6 papers
NM_014874.4
p.G108R
c.322G>A
7 papers
NM_014874.4
p.G108R
c.322G>C
2 papers
NM_014874.4
p.T111A
c.331A>G
1 paper
NM_014874.4
p.T111S
c.331A>T
1 paper
NM_014874.4
p.N107K
c.321T>A
1 paper
NM_014874.4
p.N107K
c.321T>G
1 paper
NM_014874.4
p.N107S
c.320A>G
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