Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.Q276ins1

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.Q276ins1
c.826_827insGGC
Surrounding Variants
13 papers
NM_014874.4
p.V273G
c.818T>G
2 papers
NM_014874.4
p.V273L
c.817G>C
2 papers
NM_014874.4
p.V273L
c.817G>T
12 papers
NM_014874.4
p.R274W
c.820C>T
9 papers
NM_014874.4
p.R274Q
c.821G>A
4 papers
NM_014874.4
p.R275W
c.823C>T
3 papers
NM_014874.4
p.R275Q
c.824G>A
1 paper
NM_014874.4
p.Q276K
c.826C>A
1 paper
NM_014874.4
p.Q276*
c.826C>T
12 papers
NM_014874.4
p.Q276R
c.827A>G
6 papers
NM_014874.4
p.Q276H
c.828G>C
7 papers
NM_014874.4
p.Q276H
c.828G>T
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