Varaico: Literature-Extracted Genetic Variants

Gene:MGME1

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
1–12 of 62 variants
7 papers
NM_052865.4
p.W152*
c.456G>A
7 papers
NM_052865.4
p.T265I
c.794C>T
6 papers
NM_052865.4
p.S15C
c.43A>T
6 papers
NM_052865.4
p.W152*
c.455G>A
6 papers
NM_052865.4
p.Y233C
c.698A>G
5 papers
NM_052865.4
p.D251N
c.751G>A
4 papers
NM_052865.4
p.P120delFs
c.359delC
3 papers
NM_052865.4
p.P120fs
c.358_359fs
3 papers
NM_052865.4
p.R178W
c.532C>T
2 papers
NM_052865.4
p.N268I
c.803A>T
2 papers
NM_052865.4
p.Q288*
c.862C>T
1 paper
NM_052865.4
p.M1V
c.1A>G
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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."