Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.I100L

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.I100L
c.298A>C
Surrounding Variants
1 paper
NM_000303.3
p.I100V
c.298A>G
1 paper
NM_000303.3
p.I100F
c.298A>T
1 paper
NM_000303.3
p.L99F
c.297A>C
1 paper
NM_000303.3
p.L99F
c.297A>T
1 paper
NM_000303.3
p.I100N
c.299T>A
1 paper
NM_000303.3
p.I100T
c.299T>C
1 paper
NM_000303.3
p.I100S
c.299T>G
1 paper
NM_000303.3
p.I100M
c.300C>G
1 paper
NM_000303.3
p.L99*
c.296T>A
2 papers
NM_000303.3
p.L99S
c.296T>C
1 paper
NM_000303.3
p.L99*
c.296T>G
1 paper
NM_000303.3
p.I100_N101delFs
c.298_301del4
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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."