Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.R104W

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
62 papers
NM_014874.4
p.R104W
c.310C>T
Surrounding Variants
10 papers
NM_014874.4
p.R104Q
c.311G>A
6 papers
NM_014874.4
p.R104L
c.311G>T
2 papers
NM_014874.4
p.R104Splc
c.311+1G>T
1 paper
NM_014874.4
p.G103fs
c.307_308fs
1 paper
NM_014874.4
p.G103_R104insA
c.307_311ins3
2 papers
NM_014874.4
p.F101V
c.301T>G
2 papers
NM_014874.4
p.F102insFs
c.306dupT
5 papers
NM_014874.4
p.A100G
c.299C>G
1 paper
NM_014874.4
p.A100T
c.298G>A
1 paper
NM_014874.4
p.A100S
c.298G>T
3 papers
NM_014874.4
p.V99M
c.295G>A
1 paper
NM_014874.4
p.K98R
c.293A>G
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