Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.V69I

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.V69I
c.205G>A
Surrounding Variants
13 papers
NM_014874.4
p.V69F
c.205G>T
1 paper
NM_014874.4
p.V69D
c.206T>A
1 paper
NM_014874.4
p.T71A
c.211A>G
1 paper
NM_014874.4
p.T71S
c.211A>T
1 paper
NM_014874.4
p.L66P
c.197T>C
1 paper
NM_014874.4
p.E65D
c.195A>T
1 paper
NM_014874.4
p.E65G
c.194A>G
1 paper
NM_014874.4
p.E65Q
c.193G>C
4 papers
NM_014874.4
p.E65*
c.193G>T
1 paper
NM_014874.4
p.A64T
c.190G>A
2 papers
NM_014874.4
p.Q74R
c.221A>G
3 papers
NM_014874.4
p.N63H
c.187A>C
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