Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.S27A

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.S27A
c.79T>G
Surrounding Variants
1 paper
NM_014874.4
p.S27F
c.80C>T
1 paper
NM_014874.4
p.A26T
c.76G>A
1 paper
NM_014874.4
p.V24V
c.72G>C
1 paper
NM_014874.4
p.E23K
c.67G>A
1 paper
NM_014874.4
p.A22A
c.66T>G
1 paper
NM_014874.4
p.A22T
c.64G>A
8 papers
NM_014874.4
p.M21V
c.61A>G
1 paper
NM_014874.4
p.V33_A35Fs
c.98_104delinsTCCFs
3 papers
NM_014874.4
p.T34A
c.100A>G
1 paper
NM_014874.4
p.H20fs
c.58_59fs
12 papers
NM_014874.4
p.H20Y
c.58C>T
1 paper
NM_014874.4
p.H20_A22del3
c.58_65del9
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