Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.K109Q

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.K109Q
c.325A>C
Surrounding Variants
1 paper
NM_000303.3
p.K109E
c.325A>G
1 paper
NM_000303.3
p.K109*
c.325A>T
1 paper
NM_000303.3
p.K109T
c.326A>C
1 paper
NM_000303.3
p.K109R
c.326A>G
1 paper
NM_000303.3
p.K109I
c.326A>T
3 papers
NM_000303.3
p.A108A
c.324G>A
1 paper
NM_000303.3
p.K109N
c.327A>C
1 paper
NM_000303.3
p.K109N
c.327A>T
2 papers
NM_000303.3
p.A108E
c.323C>A
1 paper
NM_000303.3
p.A108insFs
c.323_324insT
2 papers
NM_000303.3
p.A108G
c.323C>G
39 papers
NM_000303.3
p.A108V
c.323C>T
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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."