Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.L741S

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.L741S
c.2222T>C
Surrounding Variants
5 papers
NM_014874.4
p.L741W
c.2222T>G
8 papers
NM_014874.4
p.L741V
c.2221T>G
2 papers
NM_014874.4
p.W740*
c.2220G>A
7 papers
NM_014874.4
p.W740C
c.2220G>C
6 papers
NM_014874.4
p.W740C
c.2220G>T
2 papers
NM_014874.4
p.W740*
c.2219G>A
29 papers
NM_014874.4
p.W740S
c.2219G>C
1 paper
NM_014874.4
p.W740L
c.2219G>T
7 papers
NM_014874.4
p.W740R
c.2218T>A
7 papers
NM_014874.4
p.W740R
c.2218T>C
1 paper
NM_014874.4
p.S743R
c.2227A>C
1 paper
NM_014874.4
p.G739S
c.2215G>A
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