Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.R95W

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.R95W
c.283A>T
Surrounding Variants
3 papers
NM_014874.4
p.R95G
c.283A>G
2 papers
NM_014874.4
p.R95T
c.284G>C
153 papers
NM_014874.4
p.R94Q
c.281G>A
2 papers
NM_014874.4
p.R94P
c.281G>C
1 paper
NM_014874.4
p.R95S
c.285G>C
2 papers
NM_014874.4
p.R94L
c.281G>T
2 papers
NM_014874.4
p.R95S
c.285G>T
11 papers
NM_014874.4
p.R94G
c.280C>G
84 papers
NM_014874.4
p.R94W
c.280C>T
1 paper
NM_014874.4
p.R94delFs
c.281delG
1 paper
NM_014874.4
p.H96Q
c.288C>A
1 paper
NM_014874.4
p.H96Q
c.288C>G
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