Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.L76P

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
35 papers
NM_014874.4
p.L76P
c.227T>C
Surrounding Variants
2 papers
NM_014874.4
p.L76R
c.227T>G
1 paper
NM_014874.4
p.L76M
c.226C>A
1 paper
NM_014874.4
p.L76fs
c.226_227fs
1 paper
NM_014874.4
p.L76L
c.228G>A
3 papers
NM_014874.4
p.D77N
c.229G>A
1 paper
NM_014874.4
p.V78I
c.232G>A
2 papers
NM_014874.4
p.Q74R
c.221A>G
1 paper
NM_014874.4
p.V78D
c.233T>A
1 paper
NM_014874.4
p.V78A
c.233T>C
1 paper
NM_014874.4
p.K79R
c.236A>G
1 paper
NM_014874.4
p.G80S
c.238G>A
1 paper
NM_014874.4
p.G80A
c.239G>C
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