Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.V723I

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.V723I
c.2167G>A
Surrounding Variants
1 paper
NM_014874.4
p.E722D
c.2166G>C
1 paper
NM_014874.4
p.E722D
c.2166G>T
1 paper
NM_014874.4
p.V723A
c.2168T>C
5 papers
NM_014874.4
p.L724P
c.2171T>C
3 papers
NM_014874.4
p.I721T
c.2162T>C
1 paper
NM_014874.4
p.I721F
c.2161A>T
1 paper
NM_014874.4
p.D725V
c.2174A>T
1 paper
NM_014874.4
p.K720E
c.2158A>G
1 paper
NM_014874.4
p.S726P
c.2176T>C
1 paper
NM_014874.4
p.K719R
c.2156A>G
1 paper
NM_014874.4
p.Q728K
c.2182C>A
1 paper
NM_014874.4
p.Q728R
c.2183A>G
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