Varaico: Literature-Extracted Genetic Variants

Gene:MGME1
Variant:p.L13_R14delFs

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.L13_R14delFs
c.37_41del5
Surrounding Variants
1 paper
NM_052865.4
p.C10fs
c.28_29fs
1 paper
NM_052865.4
p.I9fs
c.25_26fs
6 papers
NM_052865.4
p.S15C
c.43A>T
1 paper
NM_052865.4
p.S19del1
c.55_57delTCT
1 paper
NM_052865.4
p.M1I
c.3G>A
1 paper
NM_052865.4
p.M1I
c.3G>C
1 paper
NM_052865.4
p.M1I
c.3G>T
1 paper
NM_052865.4
p.M1V
c.1A>G
1 paper
NM_052865.4
p.S29C
c.86C>G
1 paper
NM_052865.4
p.E45G
c.134A>G
1 paper
NM_052865.4
p.Y52*
c.156C>A
1 paper
NM_052865.4
p.Y52*
c.156C>G
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