Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.V286G

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
1 paper
NM_014874.4
p.V286G
c.857T>G
Surrounding Variants
1 paper
NM_014874.4
p.V286A
c.857T>C
1 paper
NM_014874.4
p.E288K
c.862G>A
5 papers
NM_014874.4
p.F284Y
c.851T>A
3 papers
NM_014874.4
p.E288D
c.864G>C
3 papers
NM_014874.4
p.E288D
c.864G>T
1 paper
NM_014874.4
p.L289L
c.865C>T
1 paper
NM_014874.4
p.S283T
c.848G>C
1 paper
NM_014874.4
p.G290D
c.869G>A
1 paper
NM_014874.4
p.T282P
c.844A>C
1 paper
NM_014874.4
p.T282A
c.844A>G
1 paper
NM_014874.4
p.G290G
c.870C>T
11 papers
NM_014874.4
p.C281S
c.842G>C
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