Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.F144S

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.F144S
c.431T>C
Surrounding Variants
1 paper
NM_000303.3
p.F144Y
c.431T>A
1 paper
NM_000303.3
p.F144C
c.431T>G
26 papers
NM_000303.3
p.F144L
c.432C>A
26 papers
NM_000303.3
p.F144L
c.432C>G
1 paper
NM_000303.3
p.F144I
c.430T>A
30 papers
NM_000303.3
p.F144L
c.430T>C
2 papers
NM_000303.3
p.F144V
c.430T>G
1 paper
NM_000303.3
p.E143D
c.429G>C
1 paper
NM_000303.3
p.E143D
c.429G>T
1 paper
NM_000303.3
p.Y145N
c.433T>A
1 paper
NM_000303.3
p.Y145H
c.433T>C
1 paper
NM_000303.3
p.Y145D
c.433T>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."