Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.R134G

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.R134G
c.400A>G
Surrounding Variants
1 paper
NM_000303.3
p.R134K
c.401G>A
1 paper
NM_000303.3
p.R134T
c.401G>C
1 paper
NM_000303.3
p.R134I
c.401G>T
1 paper
NM_000303.3
p.R134S
c.402A>C
1 paper
NM_000303.3
p.R134S
c.402A>T
1 paper
NM_000303.3
p.R134_S135Fs
c.402_404delinsTGAGTAAGGCFs
1 paper
NM_000303.3
p.G133E
c.398G>A
1 paper
NM_000303.3
p.G133A
c.398G>C
1 paper
NM_000303.3
p.G133V
c.398G>T
2 papers
NM_000303.3
p.S135R
c.403A>C
1 paper
NM_000303.3
p.S135G
c.403A>G
1 paper
NM_000303.3
p.S135C
c.403A>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."