Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.L710P

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
8 papers
NM_014874.4
p.L710P
c.2129T>C
Surrounding Variants
1 paper
NM_014874.4
p.N709I
c.2126A>T
1 paper
NM_014874.4
p.Q712_A715del4
c.2134_2144del12
1 paper
NM_014874.4
p.E708G
c.2123A>G
1 paper
NM_014874.4
p.R707Q
c.2120G>A
5 papers
NM_014874.4
p.R707P
c.2120G>C
1 paper
NM_014874.4
p.R707L
c.2120G>T
48 papers
NM_014874.4
p.R707W
c.2119C>T
1 paper
NM_014874.4
p.I714V
c.2140A>G
1 paper
NM_014874.4
p.I714T
c.2141T>C
4 papers
NM_014874.4
p.T706P
c.2116A>C
2 papers
NM_014874.4
p.A716ins0
c.2146_2148dupGCC
1 paper
NM_014874.4
p.V705D
c.2114T>A
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