Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.R7Q

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.R7Q
c.20G>A
Surrounding Variants
1 paper
NM_014874.4
p.R7L
c.20G>T
2 papers
NM_014874.4
p.C8R
c.22T>C
1 paper
NM_014874.4
p.F5L
c.15C>A
1 paper
NM_014874.4
p.F5L
c.15C>G
1 paper
NM_014874.4
p.F5L
c.13T>C
1 paper
NM_014874.4
p.F5V
c.13T>G
1 paper
NM_014874.4
p.S10_I11ins6
c.28_32ins18
1 paper
NM_014874.4
p.L4ins2
c.10_11ins6
1 paper
NM_014874.4
p.I11V
c.31A>G
1 paper
NM_014874.4
p.I11T
c.32T>C
1 paper
NM_014874.4
p.I11S
c.32T>G
1 paper
NM_014874.4
p.L3V
c.7C>G
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