Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.A54A

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.A54A
c.162C>A
Surrounding Variants
1 paper
NM_014874.4
p.T55P
c.163A>C
1 paper
NM_014874.4
p.T55S
c.163A>T
1 paper
NM_014874.4
p.A54G
c.161C>G
1 paper
NM_014874.4
p.A54V
c.161C>T
1 paper
NM_014874.4
p.T55S
c.164C>G
2 papers
NM_014874.4
p.T55I
c.164C>T
2 papers
NM_014874.4
p.A54T
c.160G>A
1 paper
NM_014874.4
p.S53R
c.159C>A
1 paper
NM_014874.4
p.S53R
c.159C>G
3 papers
NM_014874.4
p.T55T
c.165C>T
2 papers
NM_014874.4
p.S53N
c.158G>A
1 paper
NM_014874.4
p.S53R
c.157A>C
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