Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.R116M

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
2 papers
NM_000303.3
p.R116M
c.347G>T
Surrounding Variants
2 papers
NM_000303.3
p.R116K
c.347G>A
2 papers
NM_000303.3
p.R116T
c.347G>C
1 paper
NM_000303.3
p.R116G
c.346A>G
1 paper
NM_000303.3
p.R116W
c.346A>T
2 papers
NM_000303.3
p.R116Splc
c.347+1G>A
1 paper
NM_000303.3
p.R116S
c.348G>C
1 paper
NM_000303.3
p.R116S
c.348G>T
1 paper
NM_000303.3
p.K115N
c.345G>C
1 paper
NM_000303.3
p.K115N
c.345G>T
1 paper
NM_000303.3
p.K115insFs
c.345dupG
2 papers
NM_000303.3
p.K115T
c.344A>C
1 paper
NM_000303.3
p.K115R
c.344A>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."