Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.G41D

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.G41D
c.122G>A
Surrounding Variants
1 paper
NM_014874.4
p.G41S
c.121G>A
1 paper
NM_014874.4
p.G41R
c.121G>C
1 paper
NM_014874.4
p.N40S
c.119A>G
1 paper
NM_014874.4
p.I39M
c.117C>G
6 papers
NM_014874.4
p.F43L
c.129T>A
2 papers
NM_014874.4
p.E44K
c.130G>A
1 paper
NM_014874.4
p.E44Q
c.130G>C
3 papers
NM_014874.4
p.Q45R
c.134A>G
1 paper
NM_014874.4
p.G47_A48delFs
c.141_142delGG
7 papers
NM_014874.4
p.K38del1
c.112_113delAAG
1 paper
NM_014874.4
p.G47A
c.140G>C
2 papers
NM_014874.4
p.A35T
c.103G>A
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