Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.R280P

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.R280P
c.839G>C
Surrounding Variants
63 papers
NM_014874.4
p.R280H
c.839G>A
1 paper
NM_014874.4
p.R280L
c.839G>T
2 papers
NM_014874.4
p.R280G
c.838C>G
10 papers
NM_014874.4
p.R280C
c.838C>T
10 papers
NM_014874.4
p.C281S
c.841T>A
11 papers
NM_014874.4
p.C281S
c.842G>C
1 paper
NM_014874.4
p.T282P
c.844A>C
1 paper
NM_014874.4
p.T282A
c.844A>G
1 paper
NM_014874.4
p.M278T
c.833T>C
6 papers
NM_014874.4
p.H277R
c.830A>G
1 paper
NM_014874.4
p.S283T
c.848G>C
3 papers
NM_014874.4
p.H277Y
c.829C>T
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