Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.S130P

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.S130P
c.388T>C
Surrounding Variants
1 paper
NM_000303.3
p.S130T
c.388T>A
1 paper
NM_000303.3
p.S130A
c.388T>G
2 papers
NM_000303.3
p.S130delFs
c.390delC
1 paper
NM_000303.3
p.S130Y
c.389C>A
1 paper
NM_000303.3
p.S130C
c.389C>G
1 paper
NM_000303.3
p.S130F
c.389C>T
1 paper
NM_000303.3
p.V129E
c.386T>A
1 paper
NM_000303.3
p.V129A
c.386T>C
1 paper
NM_000303.3
p.V129G
c.386T>G
1 paper
NM_000303.3
p.P131T
c.391C>A
12 papers
NM_000303.3
p.P131A
c.391C>G
1 paper
NM_000303.3
p.P131S
c.391C>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."