Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.I126S

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.I126S
c.377T>G
Surrounding Variants
1 paper
NM_014874.4
p.I126N
c.377T>A
3 papers
NM_014874.4
p.G127S
c.379G>A
13 papers
NM_014874.4
p.G127D
c.380G>A
9 papers
NM_014874.4
p.G127V
c.380G>T
5 papers
NM_014874.4
p.H128Y
c.382C>T
5 papers
NM_014874.4
p.H128R
c.383A>G
2 papers
NM_014874.4
p.S124F
c.371C>T
1 paper
NM_014874.4
p.H128Q
c.384C>A
1 paper
NM_014874.4
p.H128Q
c.384C>G
1 paper
NM_014874.4
p.S124A
c.370T>G
1 paper
NM_014874.4
p.S124_T129delFs
c.372_387del16
1 paper
NM_014874.4
p.T129P
c.385A>C
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