Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.S83P

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.S83P
c.247T>C
Surrounding Variants
1 paper
NM_014874.4
p.S83C
c.248C>G
1 paper
NM_014874.4
p.S83F
c.248C>T
1 paper
NM_014874.4
p.L82P
c.245T>C
2 papers
NM_014874.4
p.K84E
c.250A>G
1 paper
NM_014874.4
p.Y81*
c.243C>G
1 paper
NM_014874.4
p.Y81F
c.242A>T
1 paper
NM_014874.4
p.V85delFs
c.253delG
1 paper
NM_014874.4
p.G80A
c.239G>C
6 papers
NM_014874.4
p.G80V
c.239G>T
1 paper
NM_014874.4
p.G80S
c.238G>A
1 paper
NM_014874.4
p.K79R
c.236A>G
1 paper
NM_014874.4
p.G87S
c.259G>A
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."