Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.G228C

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
14 papers
NM_000303.3
p.G228C
c.682G>T
Surrounding Variants
7 papers
NM_000303.3
p.G228R
c.682G>C
1 paper
NM_000303.3
p.G228G
c.684C>G
14 papers
NM_000303.3
p.Y229S
c.686A>C
1 paper
NM_000303.3
p.T226N
c.677C>A
1 paper
NM_000303.3
p.Y229*
c.687C>A
19 papers
NM_000303.3
p.T226S
c.677C>G
1 paper
NM_000303.3
p.Y229*
c.687C>G
20 papers
NM_000303.3
p.T226S
c.676A>T
1 paper
NM_000303.3
p.V231_T232del2
c.691_695del6
1 paper
NM_000303.3
p.R225fs
c.673_674fs
114 papers
NM_000303.3
p.V231M
c.691G>A
1 paper
NM_000303.3
p.P224R
c.671C>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."