Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.L379R

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.L379R
c.1136T>G
Surrounding Variants
2 papers
NM_014874.4
p.L379P
c.1136T>C
1 paper
NM_014874.4
p.H380Y
c.1138C>T
1 paper
NM_014874.4
p.L379del1
c.1135_1136delCTG
1 paper
NM_014874.4
p.S378Y
c.1133C>A
1 paper
NM_014874.4
p.S378_M381del0
c.1134_1142del9
6 papers
NM_014874.4
p.S378P
c.1132T>C
2 papers
NM_014874.4
p.S378A
c.1132T>G
11 papers
NM_014874.4
p.M376I
c.1128G>A
11 papers
NM_014874.4
p.M376I
c.1128G>C
1 paper
NM_014874.4
p.A382P
c.1144G>C
11 papers
NM_014874.4
p.M376I
c.1128G>T
1 paper
NM_014874.4
p.A382V
c.1145C>T
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