Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.G72S

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.G72S
c.214G>A
Surrounding Variants
2 papers
NM_000303.3
p.G72R
c.214G>C
1 paper
NM_000303.3
p.G72C
c.214G>T
1 paper
NM_000303.3
p.G72D
c.215G>A
1 paper
NM_000303.3
p.G72A
c.215G>C
1 paper
NM_000303.3
p.G72V
c.215G>T
1 paper
NM_000303.3
p.L73_Y76del4
c.217_227del12
1 paper
NM_000303.3
p.N71K
c.213T>A
1 paper
NM_000303.3
p.N71K
c.213T>G
1 paper
NM_000303.3
p.N71T
c.212A>C
1 paper
NM_000303.3
p.N71S
c.212A>G
1 paper
NM_000303.3
p.N71I
c.212A>T
1 paper
NM_000303.3
p.N71H
c.211A>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."