Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.S729R

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.S729R
c.2187C>G
Surrounding Variants
1 paper
NM_014874.4
p.S729R
c.2187C>A
1 paper
NM_014874.4
p.S729R
c.2185A>C
1 paper
NM_014874.4
p.S729G
c.2185A>G
1 paper
NM_014874.4
p.Q728R
c.2183A>G
1 paper
NM_014874.4
p.Q728K
c.2182C>A
1 paper
NM_014874.4
p.K732R
c.2195A>G
1 paper
NM_014874.4
p.S726P
c.2176T>C
1 paper
NM_014874.4
p.D725V
c.2174A>T
3 papers
NM_014874.4
p.L734V
c.2200C>G
1 paper
NM_014874.4
p.L734L
c.2202C>G
1 paper
NM_014874.4
p.R735insFs
c.2204dupG
2 papers
NM_014874.4
p.R735G
c.2203A>G
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