Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.H750Y

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.H750Y
c.2248C>T
Surrounding Variants
5 papers
NM_014874.4
p.H750P
c.2249A>C
1 paper
NM_014874.4
p.T749fs
c.2245_2246fs
10 papers
NM_014874.4
p.Q751*
c.2251C>T
1 paper
NM_014874.4
p.Y752C
c.2255A>G
11 papers
NM_014874.4
p.Y752*
c.2256C>A
10 papers
NM_014874.4
p.Y752*
c.2256C>G
3 papers
NM_014874.4
p.M747T
c.2240T>C
1 paper
NM_014874.4
p.M747R
c.2240T>G
1 paper
NM_014874.4
p.M747V
c.2239A>G
5 papers
NM_014874.4
p.L753fs
c.2257_2258fs
8 papers
NM_014874.4
p.L753insFs
c.2258_2259insT
1 paper
NM_014874.4
p.N746K
c.2238C>A
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