Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.H361R

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.H361R
c.1082A>G
Surrounding Variants
1 paper
NM_014874.4
p.H361P
c.1082A>C
1 paper
NM_014874.4
p.H361L
c.1082A>T
1 paper
NM_014874.4
p.H361D
c.1081C>G
28 papers
NM_014874.4
p.H361Y
c.1081C>T
5 papers
NM_014874.4
p.T362R
c.1085C>G
33 papers
NM_014874.4
p.T362M
c.1085C>T
1 paper
NM_014874.4
p.Q360E
c.1078C>G
1 paper
NM_014874.4
p.V363F
c.1087G>T
82 papers
NM_014874.4
p.R364W
c.1090C>T
19 papers
NM_014874.4
p.R364Q
c.1091G>A
14 papers
NM_014874.4
p.R364P
c.1091G>C
1 paper
NM_014874.4
p.R364L
c.1091G>T
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