Varaico: Literature-Extracted Genetic Variants

Gene:MGME1
Variant:p.V136G

MGME1

72 papers

RefSeq Summary

The protein encoded by this gene is a nuclear-encoded mitochondrial protein necessary for the maintenance of mitochondrial genome synthesis. The encoded protein is a RecB-type exonuclease and primaril...

Pfam Domains

PDDEXK_1aa 150–343UCSCPD-(D/E)XK nuclease superfamily

Gene Aliases

HGNC Name

mitochondrial genome maintenance exonuclease 1

HGNC Previous Symbol

C20orf72

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_052865.4
p.V136G
c.407T>G
Surrounding Variants
1 paper
NM_052865.4
p.P131R
c.392C>G
6 papers
NM_052865.4
p.W152*
c.455G>A
3 papers
NM_052865.4
p.P120fs
c.358_359fs
7 papers
NM_052865.4
p.W152*
c.456G>A
4 papers
NM_052865.4
p.P120delFs
c.359delC
1 paper
NM_052865.4
p.R108G
c.322A>G
1 paper
NM_052865.4
p.N105delFs
c.313delA
1 paper
NM_052865.4
p.F104V
c.310T>G
1 paper
NM_052865.4
p.P102S
c.304C>T
1 paper
NM_052865.4
p.R95G
c.283C>G
1 paper
NM_052865.4
p.Q90Q
c.270A>G
1 paper
NM_052865.4
p.P81R
c.242C>G
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