Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.L73F

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.L73F
c.219G>T
Surrounding Variants
1 paper
NM_000303.3
p.L73F
c.219G>C
1 paper
NM_000303.3
p.V74I
c.220G>A
1 paper
NM_000303.3
p.V74L
c.220G>C
1 paper
NM_000303.3
p.V74L
c.220G>T
1 paper
NM_000303.3
p.L73S
c.218T>C
1 paper
NM_000303.3
p.L73W
c.218T>G
1 paper
NM_000303.3
p.L73M
c.217T>A
1 paper
NM_000303.3
p.V74E
c.221T>A
2 papers
NM_000303.3
p.V74A
c.221T>C
1 paper
NM_000303.3
p.L73V
c.217T>G
1 paper
NM_000303.3
p.V74G
c.221T>G
1 paper
NM_000303.3
p.G72D
c.215G>A
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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."