Varaico: Literature-Extracted Genetic Variants

Gene:MGME1
Variant:p.Y205N

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.Y205N
c.613T>A
Surrounding Variants
1 paper
NM_052865.4
p.S217R
c.649A>C
1 paper
NM_052865.4
p.S217R
c.651T>A
1 paper
NM_052865.4
p.S217R
c.651T>G
1 paper
NM_052865.4
p.R220*
c.658C>T
1 paper
NM_052865.4
p.S188Fs
c.563_564delinsTFs
1 paper
NM_052865.4
p.E223Q
c.667G>C
1 paper
NM_052865.4
p.E184A
c.551A>C
1 paper
NM_052865.4
p.H180Q
c.540C>A
1 paper
NM_052865.4
p.H180Q
c.540C>G
1 paper
NM_052865.4
p.L231S
c.692T>C
1 paper
NM_052865.4
p.R178Q
c.533G>A
3 papers
NM_052865.4
p.R178W
c.532C>T
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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."