Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.R141P

PMM2

623 papers

RefSeq Summary

The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharid...

Pfam Domains

PMMaa 28–246UCSCEukaryotic phosphomannomutase

Gene Aliases

HGNC Name

phosphomannomutase 2

HGNC Previous Symbol

CDG1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000303.3
p.R141P
c.422G>C
Surrounding Variants
315 papers
NM_000303.3
p.R141H
c.422G>A
1 paper
NM_000303.3
p.R141L
c.422G>T
1 paper
NM_000303.3
p.R141S
c.421C>A
1 paper
NM_000303.3
p.R141G
c.421C>G
10 papers
NM_000303.3
p.R141C
c.421C>T
1 paper
NM_000303.3
p.E140D
c.420A>C
1 paper
NM_000303.3
p.I142L
c.424A>C
1 paper
NM_000303.3
p.I142V
c.424A>G
1 paper
NM_000303.3
p.E140D
c.420A>T
1 paper
NM_000303.3
p.I142F
c.424A>T
1 paper
NM_000303.3
p.E140A
c.419A>C
1 paper
NM_000303.3
p.E140G
c.419A>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."