Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.K316E

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.K316E
c.946A>G
Surrounding Variants
1 paper
NM_014874.4
p.K316delFs
c.947delA
1 paper
NM_014874.4
p.A317S
c.949G>T
1 paper
NM_014874.4
p.G319S
c.955G>A
5 papers
NM_014874.4
p.G319G
c.957C>T
2 papers
NM_014874.4
p.A312T
c.934G>A
1 paper
NM_014874.4
p.N311K
c.933C>A
1 paper
NM_014874.4
p.N311K
c.933C>G
1 paper
NM_014874.4
p.N311S
c.932A>G
1 paper
NM_014874.4
p.P321L
c.962C>T
1 paper
NM_014874.4
p.E322insFs
c.965_966insC
1 paper
NM_014874.4
p.V309A
c.926T>C
1 paper
NM_014874.4
p.V309L
c.925G>C
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