Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.S106R

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
3 papers
NM_014874.4
p.S106R
c.316A>C
Surrounding Variants
1 paper
NM_014874.4
p.S106G
c.316A>G
3 papers
NM_014874.4
p.S106R
c.318C>A
3 papers
NM_014874.4
p.S106R
c.318C>G
2 papers
NM_014874.4
p.T105R
c.314C>G
93 papers
NM_014874.4
p.T105M
c.314C>T
3 papers
NM_014874.4
p.T105A
c.313A>G
1 paper
NM_014874.4
p.T105S
c.313A>T
1 paper
NM_014874.4
p.N107S
c.320A>G
1 paper
NM_014874.4
p.N107K
c.321T>A
1 paper
NM_014874.4
p.N107K
c.321T>G
6 papers
NM_014874.4
p.G108R
c.322G>A
7 papers
NM_014874.4
p.G108R
c.322G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."