Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.S743R

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.S743R
c.2227A>C
Surrounding Variants
1 paper
NM_014874.4
p.S743R
c.2229T>A
1 paper
NM_014874.4
p.S743R
c.2229T>G
3 papers
NM_014874.4
p.E744K
c.2230G>A
1 paper
NM_014874.4
p.E744delins
c.2230_2231delinsAT
1 paper
NM_014874.4
p.E744A
c.2231A>C
1 paper
NM_014874.4
p.E744G
c.2231A>G
1 paper
NM_014874.4
p.E744V
c.2231A>T
5 papers
NM_014874.4
p.E744D
c.2232G>C
6 papers
NM_014874.4
p.E744D
c.2232G>T
1 paper
NM_014874.4
p.L741S
c.2222T>C
5 papers
NM_014874.4
p.L741W
c.2222T>G
1 paper
NM_014874.4
p.L745F
c.2233C>T
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