Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.D78V

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
9 papers
NM_000303.3
p.D78V
c.233A>T
Surrounding Variants
1 paper
NM_000303.3
p.D78A
c.233A>C
1 paper
NM_000303.3
p.D78G
c.233A>G
1 paper
NM_000303.3
p.D78N
c.232G>A
1 paper
NM_000303.3
p.D78H
c.232G>C
1 paper
NM_000303.3
p.D78Y
c.232G>T
2 papers
NM_000303.3
p.D78E
c.234T>A
2 papers
NM_000303.3
p.D78E
c.234T>G
1 paper
NM_000303.3
p.K77N
c.231A>C
1 paper
NM_000303.3
p.K77N
c.231A>T
1 paper
NM_000303.3
p.G79R
c.235G>A
1 paper
NM_000303.3
p.G79R
c.235G>C
1 paper
NM_000303.3
p.G79W
c.235G>T
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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."