Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.F49L

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
2 papers
NM_000303.3
p.F49L
c.147T>A
Surrounding Variants
2 papers
NM_000303.3
p.F49L
c.147T>G
1 paper
NM_000303.3
p.E50K
c.148G>A
1 paper
NM_000303.3
p.E50Q
c.148G>C
1 paper
NM_000303.3
p.F49Y
c.146T>A
1 paper
NM_000303.3
p.F49S
c.146T>C
1 paper
NM_000303.3
p.F49C
c.146T>G
1 paper
NM_000303.3
p.E50A
c.149A>C
1 paper
NM_000303.3
p.E50G
c.149A>G
2 papers
NM_000303.3
p.E50V
c.149A>T
1 paper
NM_000303.3
p.F49I
c.145T>A
2 papers
NM_000303.3
p.F49L
c.145T>C
1 paper
NM_000303.3
p.F49V
c.145T>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."