Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.K168Q

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.K168Q
c.502A>C
Surrounding Variants
1 paper
NM_000303.3
p.K168E
c.502A>G
1 paper
NM_000303.3
p.K168T
c.503A>C
2 papers
NM_000303.3
p.K168R
c.503A>G
1 paper
NM_000303.3
p.K168I
c.503A>T
1 paper
NM_000303.3
p.K168N
c.504A>C
1 paper
NM_000303.3
p.K168N
c.504A>T
1 paper
NM_000303.3
p.G167E
c.500G>A
1 paper
NM_000303.3
p.G167A
c.500G>C
1 paper
NM_000303.3
p.G167V
c.500G>T
1 paper
NM_000303.3
p.G167R
c.499G>A
1 paper
NM_000303.3
p.G169S
c.505G>A
1 paper
NM_000303.3
p.G167R
c.499G>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."