Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.R123Q

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
71 papers
NM_000303.3
p.R123Q
c.368G>A
Surrounding Variants
1 paper
NM_000303.3
p.R123P
c.368G>C
1 paper
NM_000303.3
p.R123L
c.368G>T
6 papers
NM_000303.3
p.R123G
c.367C>G
19 papers
NM_000303.3
p.R123*
c.367C>T
1 paper
NM_000303.3
p.N124H
c.370A>C
2 papers
NM_000303.3
p.N124D
c.370A>G
1 paper
NM_000303.3
p.N124Y
c.370A>T
6 papers
NM_000303.3
p.F122L
c.366C>A
6 papers
NM_000303.3
p.F122L
c.366C>G
1 paper
NM_000303.3
p.F122F
c.366C>T
1 paper
NM_000303.3
p.N124T
c.371A>C
1 paper
NM_000303.3
p.N124S
c.371A>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."