Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.C482Y

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.C482Y
c.1445G>A
Surrounding Variants
1 paper
NM_014874.4
p.R481H
c.1442G>A
1 paper
NM_014874.4
p.S483S
c.1449C>G
1 paper
NM_014874.4
p.R481C
c.1441C>T
4 papers
NM_014874.4
p.T484M
c.1451C>T
3 papers
NM_014874.4
p.T484T
c.1452G>A
2 papers
NM_014874.4
p.A485T
c.1453G>A
1 paper
NM_014874.4
p.S479C
c.1436C>G
1 paper
NM_014874.4
p.M478I
c.1434G>A
1 paper
NM_014874.4
p.M478I
c.1434G>C
1 paper
NM_014874.4
p.M478I
c.1434G>T
1 paper
NM_014874.4
p.M478R
c.1433T>G
2 papers
NM_014874.4
p.N488S
c.1463A>G
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