Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.F31C

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.F31C
c.92T>G
Surrounding Variants
1 paper
NM_000303.3
p.F31Y
c.92T>A
3 papers
NM_000303.3
p.F31S
c.92T>C
9 papers
NM_000303.3
p.F31L
c.93C>A
9 papers
NM_000303.3
p.F31L
c.93C>G
1 paper
NM_000303.3
p.F31I
c.91T>A
9 papers
NM_000303.3
p.F31L
c.91T>C
1 paper
NM_000303.3
p.F31V
c.91T>G
2 papers
NM_000303.3
p.D30E
c.90C>A
1 paper
NM_000303.3
p.L32I
c.94C>A
2 papers
NM_000303.3
p.D30E
c.90C>G
2 papers
NM_000303.3
p.L32V
c.94C>G
1 paper
NM_000303.3
p.D30A
c.89A>C
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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."