Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.S105T

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.S105T
c.314G>C
Surrounding Variants
2 papers
NM_000303.3
p.S105N
c.314G>A
1 paper
NM_000303.3
p.S105I
c.314G>T
2 papers
NM_000303.3
p.S105R
c.313A>C
2 papers
NM_000303.3
p.S105G
c.313A>G
2 papers
NM_000303.3
p.S105C
c.313A>T
2 papers
NM_000303.3
p.S105R
c.315C>A
2 papers
NM_000303.3
p.S105R
c.315C>G
1 paper
NM_000303.3
p.Y106N
c.316T>A
1 paper
NM_000303.3
p.Y106H
c.316T>C
1 paper
NM_000303.3
p.Y106D
c.316T>G
1 paper
NM_000303.3
p.Y106S
c.317A>C
11 papers
NM_000303.3
p.Y106C
c.317A>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."