Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.I714V

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.I714V
c.2140A>G
Surrounding Variants
1 paper
NM_014874.4
p.I714T
c.2141T>C
2 papers
NM_014874.4
p.A716ins0
c.2146_2148dupGCC
15 papers
NM_014874.4
p.A716T
c.2146G>A
1 paper
NM_014874.4
p.A716P
c.2146G>C
1 paper
NM_014874.4
p.A716S
c.2146G>T
2 papers
NM_014874.4
p.A716V
c.2147C>T
1 paper
NM_014874.4
p.Q712_A715del4
c.2134_2144del12
8 papers
NM_014874.4
p.L710P
c.2129T>C
1 paper
NM_014874.4
p.N709I
c.2126A>T
1 paper
NM_014874.4
p.K719R
c.2156A>G
1 paper
NM_014874.4
p.E708G
c.2123A>G
1 paper
NM_014874.4
p.K720E
c.2158A>G
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