Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.R135Q

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
2 papers
NM_014874.4
p.R135Q
c.404G>A
Surrounding Variants
1 paper
NM_014874.4
p.R135insFs
c.403_404insT
1 paper
NM_014874.4
p.R135G
c.403C>G
1 paper
NM_014874.4
p.L134Q
c.401T>A
3 papers
NM_014874.4
p.V136V
c.408A>T
1 paper
NM_014874.4
p.E137G
c.410A>G
1 paper
NM_014874.4
p.L134delFs
c.400delC
3 papers
NM_014874.4
p.C132Y
c.395G>A
1 paper
NM_014874.4
p.N131T
c.392A>C
10 papers
NM_014874.4
p.N131S
c.392A>G
1 paper
NM_014874.4
p.T139K
c.416C>A
1 paper
NM_014874.4
p.T139R
c.416C>G
2 papers
NM_014874.4
p.T139I
c.416C>T
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