Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.K26N

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.K26N
c.78A>T
Surrounding Variants
1 paper
NM_000303.3
p.K26N
c.78A>C
1 paper
NM_000303.3
p.K26T
c.77A>C
1 paper
NM_000303.3
p.K26R
c.77A>G
1 paper
NM_000303.3
p.K26I
c.77A>T
1 paper
NM_000303.3
p.E27K
c.79G>A
1 paper
NM_000303.3
p.E27Q
c.79G>C
1 paper
NM_000303.3
p.K26Q
c.76A>C
1 paper
NM_000303.3
p.E27A
c.80A>C
1 paper
NM_000303.3
p.K26E
c.76A>G
1 paper
NM_000303.3
p.E27G
c.80A>G
1 paper
NM_000303.3
p.E27V
c.80A>T
1 paper
NM_000303.3
p.E27D
c.81A>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."