Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.D29E

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.D29E
c.87T>A
Surrounding Variants
1 paper
NM_000303.3
p.D29E
c.87T>G
2 papers
NM_000303.3
p.D29A
c.86A>C
1 paper
NM_000303.3
p.D29G
c.86A>G
1 paper
NM_000303.3
p.D29V
c.86A>T
2 papers
NM_000303.3
p.D30N
c.88G>A
1 paper
NM_000303.3
p.D30H
c.88G>C
1 paper
NM_000303.3
p.D30Y
c.88G>T
1 paper
NM_000303.3
p.D30A
c.89A>C
1 paper
NM_000303.3
p.D30G
c.89A>G
1 paper
NM_000303.3
p.D30V
c.89A>T
1 paper
NM_000303.3
p.D29N
c.85G>A
1 paper
NM_000303.3
p.D29H
c.85G>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."