Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.H128Q

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.H128Q
c.384C>A
Surrounding Variants
1 paper
NM_014874.4
p.H128Q
c.384C>G
1 paper
NM_014874.4
p.T129P
c.385A>C
5 papers
NM_014874.4
p.H128R
c.383A>G
5 papers
NM_014874.4
p.T129A
c.385A>G
1 paper
NM_014874.4
p.T129N
c.386C>A
5 papers
NM_014874.4
p.H128Y
c.382C>T
1 paper
NM_014874.4
p.T129I
c.386C>T
2 papers
NM_014874.4
p.T130A
c.388A>G
13 papers
NM_014874.4
p.G127D
c.380G>A
9 papers
NM_014874.4
p.G127V
c.380G>T
3 papers
NM_014874.4
p.T130I
c.389C>T
3 papers
NM_014874.4
p.G127S
c.379G>A
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