Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.V44G

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.V44G
c.131T>G
Surrounding Variants
1 paper
NM_000303.3
p.V44E
c.131T>A
33 papers
NM_000303.3
p.V44A
c.131T>C
1 paper
NM_000303.3
p.V44I
c.130G>A
2 papers
NM_000303.3
p.V44L
c.130G>C
3 papers
NM_000303.3
p.V44L
c.130G>T
1 paper
NM_000303.3
p.G45S
c.133G>A
1 paper
NM_000303.3
p.G45R
c.133G>C
1 paper
NM_000303.3
p.G45C
c.133G>T
1 paper
NM_000303.3
p.G45D
c.134G>A
1 paper
NM_000303.3
p.G45A
c.134G>C
1 paper
NM_000303.3
p.G45V
c.134G>T
1 paper
NM_000303.3
p.V43A
c.128T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."