Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.V43M

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
5 papers
NM_000303.3
p.V43M
c.127G>A
Surrounding Variants
2 papers
NM_000303.3
p.V43L
c.127G>C
2 papers
NM_000303.3
p.V43L
c.127G>T
1 paper
NM_000303.3
p.V43A
c.128T>C
1 paper
NM_000303.3
p.V43G
c.128T>G
1 paper
NM_000303.3
p.G42E
c.125G>A
1 paper
NM_000303.3
p.G42A
c.125G>C
1 paper
NM_000303.3
p.G42V
c.125G>T
11 papers
NM_000303.3
p.G42R
c.124G>A
1 paper
NM_000303.3
p.V44I
c.130G>A
11 papers
NM_000303.3
p.G42R
c.124G>C
2 papers
NM_000303.3
p.V44L
c.130G>C
3 papers
NM_000303.3
p.V44L
c.130G>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."