Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.E140G

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.E140G
c.419A>G
Surrounding Variants
1 paper
NM_000303.3
p.E140A
c.419A>C
1 paper
NM_000303.3
p.E140V
c.419A>T
1 paper
NM_000303.3
p.E140D
c.420A>C
1 paper
NM_000303.3
p.E140D
c.420A>T
3 papers
NM_000303.3
p.E140K
c.418G>A
1 paper
NM_000303.3
p.E140Q
c.418G>C
1 paper
NM_000303.3
p.E140*
c.418G>T
1 paper
NM_000303.3
p.E140delFs
c.419delA
1 paper
NM_000303.3
p.E139D
c.417A>C
1 paper
NM_000303.3
p.E139D
c.417A>T
1 paper
NM_000303.3
p.R141S
c.421C>A
1 paper
NM_000303.3
p.R141G
c.421C>G
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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."