Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.Q33L

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.Q33L
c.98A>T
Surrounding Variants
13 papers
NM_000303.3
p.Q33P
c.98A>C
1 paper
NM_000303.3
p.Q33R
c.98A>G
1 paper
NM_000303.3
p.Q33H
c.99A>C
1 paper
NM_000303.3
p.Q33H
c.99A>T
1 paper
NM_000303.3
p.Q33K
c.97C>A
1 paper
NM_000303.3
p.Q33E
c.97C>G
5 papers
NM_000303.3
p.Q33*
c.97C>T
1 paper
NM_000303.3
p.K34Q
c.100A>C
1 paper
NM_000303.3
p.K34E
c.100A>G
1 paper
NM_000303.3
p.K34T
c.101A>C
1 paper
NM_000303.3
p.K34R
c.101A>G
1 paper
NM_000303.3
p.K34I
c.101A>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."