Varaico: Literature-Extracted Genetic Variants

Gene:MGME1
Variant:p.Q90Q

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.Q90Q
c.270A>G
Surrounding Variants
1 paper
NM_052865.4
p.R95G
c.283C>G
1 paper
NM_052865.4
p.P81R
c.242C>G
1 paper
NM_052865.4
p.P102S
c.304C>T
1 paper
NM_052865.4
p.F104V
c.310T>G
1 paper
NM_052865.4
p.N105delFs
c.313delA
1 paper
NM_052865.4
p.E74G
c.221A>G
1 paper
NM_052865.4
p.R108G
c.322A>G
4 papers
NM_052865.4
p.P120delFs
c.359delC
3 papers
NM_052865.4
p.P120fs
c.358_359fs
1 paper
NM_052865.4
p.L55_Q57del3
c.163_170del9
1 paper
NM_052865.4
p.Y52*
c.156C>A
1 paper
NM_052865.4
p.Y52*
c.156C>G
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