Varaico: Literature-Extracted Genetic Variants

Gene:MFN2

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
1–12 of 1079 variants
153 papers
NM_014874.4
p.R94Q
c.281G>A
93 papers
NM_014874.4
p.T105M
c.314C>T
84 papers
NM_014874.4
p.R94W
c.280C>T
82 papers
NM_014874.4
p.R364W
c.1090C>T
63 papers
NM_014874.4
p.R280H
c.839G>A
62 papers
NM_014874.4
p.R104W
c.310C>T
48 papers
NM_014874.4
p.R707W
c.2119C>T
41 papers
NM_014874.4
p.R468H
c.1403G>A
35 papers
NM_014874.4
p.L76P
c.227T>C
33 papers
NM_014874.4
p.T362M
c.1085C>T
29 papers
NM_014874.4
p.W740S
c.2219G>C
28 papers
NM_014874.4
p.H361Y
c.1081C>T
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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."