Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.E93Q

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.E93Q
c.277G>C
Surrounding Variants
2 papers
NM_000303.3
p.E93K
c.277G>A
16 papers
NM_000303.3
p.E93A
c.278A>C
1 paper
NM_000303.3
p.E93G
c.278A>G
1 paper
NM_000303.3
p.E93V
c.278A>T
1 paper
NM_000303.3
p.G92D
c.275G>A
2 papers
NM_000303.3
p.E93D
c.279G>C
1 paper
NM_000303.3
p.G92A
c.275G>C
2 papers
NM_000303.3
p.E93D
c.279G>T
1 paper
NM_000303.3
p.G92V
c.275G>T
1 paper
NM_000303.3
p.G92S
c.274G>A
1 paper
NM_000303.3
p.A94T
c.280G>A
1 paper
NM_000303.3
p.G92R
c.274G>C
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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."