Varaico: Literature-Extracted Genetic Variants

Gene:PMM2

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
1–12 of 1396 variants
315 papers
NM_000303.3
p.R141H
c.422G>A
152 papers
NM_000303.3
p.F119L
c.357C>A
145 papers
NM_000303.3
p.F119L
c.355T>C
145 papers
NM_000303.3
p.F119L
c.357C>G
114 papers
NM_000303.3
p.V231M
c.691G>A
100 papers
NM_000303.3
p.P113L
c.338C>T
85 papers
NM_000303.3
p.F157S
c.470T>C
79 papers
NM_000303.3
p.T237M
c.710C>T
79 papers
NM_000303.3
p.C241S
c.722G>C
75 papers
NM_000303.3
p.C241S
c.721T>A
71 papers
NM_000303.3
p.R123Q
c.368G>A
66 papers
NM_000303.3
p.D65Y
c.193G>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."