Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.N488S

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
2 papers
NM_014874.4
p.N488S
c.1463A>G
Surrounding Variants
1 paper
NM_014874.4
p.S489P
c.1465T>C
1 paper
NM_014874.4
p.Q491P
c.1472A>C
2 papers
NM_014874.4
p.A485T
c.1453G>A
3 papers
NM_014874.4
p.T484T
c.1452G>A
4 papers
NM_014874.4
p.T484M
c.1451C>T
1 paper
NM_014874.4
p.M493L
c.1477A>C
1 paper
NM_014874.4
p.M493V
c.1477A>G
1 paper
NM_014874.4
p.M493L
c.1477A>T
1 paper
NM_014874.4
p.S483S
c.1449C>G
2 papers
NM_014874.4
p.Q494K
c.1480C>A
1 paper
NM_014874.4
p.Q494*
c.1480C>T
1 paper
NM_014874.4
p.C482Y
c.1445G>A
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