Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.E219D

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.E219D
c.657G>C
Surrounding Variants
1 paper
NM_000303.3
p.E219D
c.657G>T
1 paper
NM_000303.3
p.E219A
c.656A>C
1 paper
NM_000303.3
p.E219V
c.656A>T
1 paper
NM_000303.3
p.E219K
c.655G>A
1 paper
NM_000303.3
p.I220M
c.660C>G
12 papers
NM_000303.3
p.H218L
c.653A>T
2 papers
NM_000303.3
p.F221L
c.661T>C
4 papers
NM_000303.3
p.H218D
c.652C>G
7 papers
NM_000303.3
p.D217E
c.651C>A
1 paper
NM_000303.3
p.F221L
c.663C>A
7 papers
NM_000303.3
p.D217E
c.651C>G
1 paper
NM_000303.3
p.F221L
c.663C>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."