Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.V33_A35Fs

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.V33_A35Fs
c.98_104delinsTCCFs
Surrounding Variants
3 papers
NM_014874.4
p.T34A
c.100A>G
1 paper
NM_014874.4
p.T34I
c.101C>T
2 papers
NM_014874.4
p.A35T
c.103G>A
1 paper
NM_014874.4
p.A35insFs
c.103_104insA
2 papers
NM_014874.4
p.A35S
c.103G>T
7 papers
NM_014874.4
p.K38del1
c.112_113delAAG
1 paper
NM_014874.4
p.I39M
c.117C>G
1 paper
NM_014874.4
p.S27F
c.80C>T
1 paper
NM_014874.4
p.N40S
c.119A>G
1 paper
NM_014874.4
p.S27A
c.79T>G
1 paper
NM_014874.4
p.G41S
c.121G>A
1 paper
NM_014874.4
p.G41R
c.121G>C
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."