Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.K63I

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.K63I
c.188A>T
Surrounding Variants
1 paper
NM_000303.3
p.K63T
c.188A>C
2 papers
NM_000303.3
p.K63R
c.188A>G
1 paper
NM_000303.3
p.K63Q
c.187A>C
1 paper
NM_000303.3
p.K63N
c.189A>C
1 paper
NM_000303.3
p.K63E
c.187A>G
1 paper
NM_000303.3
p.K63N
c.189A>T
1 paper
NM_000303.3
p.Y64delFs
c.190delT
1 paper
NM_000303.3
p.E62D
c.186A>C
1 paper
NM_000303.3
p.E62D
c.186A>T
1 paper
NM_000303.3
p.Y64N
c.190T>A
1 paper
NM_000303.3
p.Y64H
c.190T>C
1 paper
NM_000303.3
p.Y64D
c.190T>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."