Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.W118R

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.W118R
c.352T>C
Surrounding Variants
1 paper
NM_014874.4
p.W118*
c.353G>A
1 paper
NM_014874.4
p.D119V
c.356A>T
1 paper
NM_014874.4
p.M116T
c.347T>C
3 papers
NM_014874.4
p.M116R
c.347T>G
2 papers
NM_014874.4
p.K120E
c.358A>G
1 paper
NM_014874.4
p.A115V
c.344C>T
1 paper
NM_014874.4
p.A115T
c.343G>A
2 papers
NM_014874.4
p.V121L
c.361G>C
1 paper
NM_014874.4
p.I113V
c.337A>G
1 paper
NM_014874.4
p.P123_G125delFs
c.368_375del8
8 papers
NM_014874.4
p.P123L
c.368C>T
1 paper
NM_014874.4
p.I113_A115del3
c.337_344del9
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."