Varaico: Literature-Extracted Genetic Variants

Gene:MGME1
Variant:p.N268I

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
2 papers
NM_052865.4
p.N268I
c.803A>T
Surrounding Variants
7 papers
NM_052865.4
p.T265I
c.794C>T
1 paper
NM_052865.4
p.V273E
c.818T>A
1 paper
NM_052865.4
p.P260S
c.778C>T
1 paper
NM_052865.4
p.T254A
c.760A>G
1 paper
NM_052865.4
p.D282D
c.846T>C
1 paper
NM_052865.4
p.K253*
c.757A>T
1 paper
NM_052865.4
p.N284S
c.851A>G
5 papers
NM_052865.4
p.D251N
c.751G>A
2 papers
NM_052865.4
p.Q288*
c.862C>T
1 paper
NM_052865.4
p.G301R
c.901G>A
1 paper
NM_052865.4
p.G301R
c.901G>C
1 paper
NM_052865.4
p.G301E
c.902G>A
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