Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.Y49D

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.Y49D
c.145T>G
Surrounding Variants
1 paper
NM_014874.4
p.Y49C
c.146A>G
1 paper
NM_014874.4
p.A48D
c.143C>A
1 paper
NM_014874.4
p.A48T
c.142G>A
1 paper
NM_014874.4
p.A48fs
c.142_143fs
1 paper
NM_014874.4
p.G47G
c.141G>C
3 papers
NM_014874.4
p.I50I
c.150C>A
1 paper
NM_014874.4
p.I50M
c.150C>G
1 paper
NM_014874.4
p.G47A
c.140G>C
1 paper
NM_014874.4
p.G47_A48delFs
c.141_142delGG
2 papers
NM_014874.4
p.E52K
c.154G>A
3 papers
NM_014874.4
p.Q45R
c.134A>G
1 paper
NM_014874.4
p.S53R
c.157A>C
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