Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.V12A

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.V12A
c.35T>C
Surrounding Variants
2 papers
NM_014874.4
p.V12I
c.34G>A
1 paper
NM_014874.4
p.I11M
c.33C>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.I11V
c.31A>G
1 paper
NM_014874.4
p.K15delFs
c.43_44delAA
1 paper
NM_014874.4
p.S10_I11ins6
c.28_32ins18
1 paper
NM_014874.4
p.K15fs
c.43_44fs
1 paper
NM_014874.4
p.K16Q
c.46A>C
2 papers
NM_014874.4
p.C8R
c.22T>C
2 papers
NM_014874.4
p.N17D
c.49A>G
1 paper
NM_014874.4
p.R7Q
c.20G>A
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