Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.R384W

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
2 papers
NM_014874.4
p.R384W
c.1150C>T
Surrounding Variants
2 papers
NM_014874.4
p.R384Q
c.1151G>A
15 papers
NM_014874.4
p.A383V
c.1148C>T
1 paper
NM_014874.4
p.E385Q
c.1153G>C
1 paper
NM_014874.4
p.A383del1
c.1147_1148delGCT
1 paper
NM_014874.4
p.A382V
c.1145C>T
1 paper
NM_014874.4
p.A382P
c.1144G>C
7 papers
NM_014874.4
p.Q386P
c.1157A>C
2 papers
NM_014874.4
p.Q386H
c.1158G>T
1 paper
NM_014874.4
p.Q387Splc
c.1160+1G>A
1 paper
NM_014874.4
p.H380Y
c.1138C>T
2 papers
NM_014874.4
p.L379P
c.1136T>C
1 paper
NM_014874.4
p.L379R
c.1136T>G
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