Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.E465D

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.E465D
c.1395G>C
Surrounding Variants
1 paper
NM_014874.4
p.E465D
c.1395G>T
1 paper
NM_014874.4
p.E465*
c.1393G>T
1 paper
NM_014874.4
p.L466L
c.1398G>A
1 paper
NM_014874.4
p.R468C
c.1402C>T
41 papers
NM_014874.4
p.R468H
c.1403G>A
1 paper
NM_014874.4
p.I470V
c.1408A>G
1 paper
NM_014874.4
p.I470T
c.1409T>C
2 papers
NM_014874.4
p.E472K
c.1414G>A
1 paper
NM_014874.4
p.G473E
c.1418G>A
1 paper
NM_014874.4
p.G475D
c.1424G>A
1 paper
NM_014874.4
p.R476G
c.1426C>G
2 papers
NM_014874.4
p.R476*
c.1426C>T
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