Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.Q367R

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.Q367R
c.1100A>G
Surrounding Variants
4 papers
NM_014874.4
p.Q367P
c.1100A>C
9 papers
NM_014874.4
p.Q367H
c.1101G>C
8 papers
NM_014874.4
p.Q367H
c.1101G>T
1 paper
NM_014874.4
p.I368_I375del8
c.1102_1124del24
1 paper
NM_014874.4
p.I368M
c.1104T>G
1 paper
NM_014874.4
p.A365V
c.1094C>T
1 paper
NM_014874.4
p.A369V
c.1106C>T
1 paper
NM_014874.4
p.E370Q
c.1108G>C
1 paper
NM_014874.4
p.E370G
c.1109A>G
19 papers
NM_014874.4
p.R364Q
c.1091G>A
14 papers
NM_014874.4
p.R364P
c.1091G>C
1 paper
NM_014874.4
p.R364L
c.1091G>T
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