Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.E65G

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.E65G
c.194A>G
Surrounding Variants
1 paper
NM_014874.4
p.E65D
c.195A>T
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.L66P
c.197T>C
1 paper
NM_014874.4
p.A64T
c.190G>A
3 papers
NM_014874.4
p.N63H
c.187A>C
2 papers
NM_014874.4
p.V69I
c.205G>A
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.T60K
c.179C>A
2 papers
NM_014874.4
p.T60M
c.179C>T
1 paper
NM_014874.4
p.T60A
c.178A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."