Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.G79G

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.G79G
c.237G>A
Surrounding Variants
1 paper
NM_000303.3
p.K80Q
c.238A>C
1 paper
NM_000303.3
p.K80E
c.238A>G
2 papers
NM_000303.3
p.G79E
c.236G>A
1 paper
NM_000303.3
p.G79A
c.236G>C
2 papers
NM_000303.3
p.G79V
c.236G>T
1 paper
NM_000303.3
p.K80T
c.239A>C
1 paper
NM_000303.3
p.K80R
c.239A>G
1 paper
NM_000303.3
p.K80I
c.239A>T
1 paper
NM_000303.3
p.G79R
c.235G>A
1 paper
NM_000303.3
p.G79R
c.235G>C
1 paper
NM_000303.3
p.G79W
c.235G>T
1 paper
NM_000303.3
p.K80N
c.240A>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."