Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.Q138P

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.Q138P
c.413A>C
Surrounding Variants
1 paper
NM_000303.3
p.Q138R
c.413A>G
1 paper
NM_000303.3
p.Q138L
c.413A>T
1 paper
NM_000303.3
p.Q138H
c.414A>C
1 paper
NM_000303.3
p.Q138H
c.414A>T
1 paper
NM_000303.3
p.Q138K
c.412C>A
3 papers
NM_000303.3
p.Q138E
c.412C>G
1 paper
NM_000303.3
p.Q138delFs
c.414delA
1 paper
NM_000303.3
p.S137R
c.411C>A
1 paper
NM_000303.3
p.S137R
c.411C>G
61 papers
NM_000303.3
p.E139K
c.415G>A
2 papers
NM_000303.3
p.E139Q
c.415G>C
1 paper
NM_000303.3
p.E139A
c.416A>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."