Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.L127F

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.L127F
c.381A>C
Surrounding Variants
1 paper
NM_000303.3
p.L127F
c.381A>T
1 paper
NM_000303.3
p.N128H
c.382A>C
1 paper
NM_000303.3
p.N128D
c.382A>G
1 paper
NM_000303.3
p.N128Y
c.382A>T
1 paper
NM_000303.3
p.L127S
c.380T>C
1 paper
NM_000303.3
p.N128T
c.383A>C
1 paper
NM_000303.3
p.N128S
c.383A>G
1 paper
NM_000303.3
p.N128I
c.383A>T
1 paper
NM_000303.3
p.L127I
c.379T>A
1 paper
NM_000303.3
p.L127V
c.379T>G
1 paper
NM_000303.3
p.N128K
c.384C>A
1 paper
NM_000303.3
p.N128K
c.384C>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."