Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.D48H

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.D48H
c.142G>C
Surrounding Variants
1 paper
NM_000303.3
p.D48N
c.142G>A
1 paper
NM_000303.3
p.D48Y
c.142G>T
1 paper
NM_000303.3
p.D48A
c.143A>C
2 papers
NM_000303.3
p.D48G
c.143A>G
1 paper
NM_000303.3
p.D48V
c.143A>T
3 papers
NM_000303.3
p.S47*
c.140C>A
1 paper
NM_000303.3
p.D48E
c.144C>A
2 papers
NM_000303.3
p.S47W
c.140C>G
1 paper
NM_000303.3
p.D48E
c.144C>G
17 papers
NM_000303.3
p.S47L
c.140C>T
1 paper
NM_000303.3
p.S47T
c.139T>A
1 paper
NM_000303.3
p.F49I
c.145T>A
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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."