Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.F157L

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.F157L
c.471T>G
Surrounding Variants
1 paper
NM_000303.3
p.F157L
c.471T>A
1 paper
NM_000303.3
p.V158I
c.472G>A
1 paper
NM_000303.3
p.V158L
c.472G>C
1 paper
NM_000303.3
p.V158L
c.472G>T
1 paper
NM_000303.3
p.F157Y
c.470T>A
85 papers
NM_000303.3
p.F157S
c.470T>C
1 paper
NM_000303.3
p.F157C
c.470T>G
1 paper
NM_000303.3
p.F157I
c.469T>A
1 paper
NM_000303.3
p.V158E
c.473T>A
2 papers
NM_000303.3
p.F157L
c.469T>C
2 papers
NM_000303.3
p.V158A
c.473T>C
1 paper
NM_000303.3
p.F157V
c.469T>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."