Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.N58S

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.N58S
c.173A>G
Surrounding Variants
1 paper
NM_000303.3
p.N58T
c.173A>C
2 papers
NM_000303.3
p.N58I
c.173A>T
1 paper
NM_000303.3
p.N58H
c.172A>C
1 paper
NM_000303.3
p.N58D
c.172A>G
1 paper
NM_000303.3
p.N58Y
c.172A>T
1 paper
NM_000303.3
p.N58K
c.174T>A
1 paper
NM_000303.3
p.N58K
c.174T>G
1 paper
NM_000303.3
p.G57G
c.171A>T
1 paper
NM_000303.3
p.D59N
c.175G>A
1 paper
NM_000303.3
p.D59H
c.175G>C
1 paper
NM_000303.3
p.D59Y
c.175G>T
1 paper
NM_000303.3
p.D59A
c.176A>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."