Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.T139R

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.T139R
c.416C>G
Surrounding Variants
1 paper
NM_014874.4
p.T139K
c.416C>A
2 papers
NM_014874.4
p.T139I
c.416C>T
1 paper
NM_014874.4
p.G141_H142del2
c.421_425del6
1 paper
NM_014874.4
p.D140E
c.420T>A
1 paper
NM_014874.4
p.D140E
c.420T>G
1 paper
NM_014874.4
p.G141R
c.421G>C
1 paper
NM_014874.4
p.E137G
c.410A>G
3 papers
NM_014874.4
p.V136V
c.408A>T
2 papers
NM_014874.4
p.H142Y
c.424C>T
1 paper
NM_014874.4
p.E143A
c.428A>C
1 paper
NM_014874.4
p.A144delFs
c.430delG
2 papers
NM_014874.4
p.R135Q
c.404G>A
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