Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.M1T

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.M1T
c.2T>C
Surrounding Variants
1 paper
NM_014874.4
p.M1insFs
c.2_3insAA
1 paper
NM_014874.4
p.M1L
c.1A>C
1 paper
NM_014874.4
p.M1V
c.1A>G
1 paper
NM_014874.4
p.M1L
c.1A>T
1 paper
NM_014874.4
p.M1I
c.3G>A
1 paper
NM_014874.4
p.M1_S2insFs
c.3_4insA
1 paper
NM_014874.4
p.M1_S2insFs
c.3_4insT
1 paper
NM_014874.4
p.M1I
c.3G>T
1 paper
NM_014874.4
p.S2F
c.5C>T
1 paper
NM_014874.4
p.L3V
c.7C>G
1 paper
NM_014874.4
p.L4ins2
c.10_11ins6
1 paper
NM_014874.4
p.F5L
c.13T>C
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