Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.I88L

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
3 papers
NM_014874.4
p.I88L
c.262A>C
Surrounding Variants
2 papers
NM_014874.4
p.I88F
c.262A>T
1 paper
NM_014874.4
p.I88N
c.263T>A
1 paper
NM_014874.4
p.I88T
c.263T>C
1 paper
NM_014874.4
p.G87D
c.260G>A
1 paper
NM_014874.4
p.S89C
c.265A>T
1 paper
NM_014874.4
p.G87S
c.259G>A
1 paper
NM_014874.4
p.E90K
c.268G>A
1 paper
NM_014874.4
p.E90G
c.269A>G
2 papers
NM_014874.4
p.V91M
c.271G>A
3 papers
NM_014874.4
p.V91L
c.271G>C
3 papers
NM_014874.4
p.V91L
c.271G>T
1 paper
NM_014874.4
p.V85delFs
c.253delG
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