Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.P69A

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.P69A
c.205C>G
Surrounding Variants
2 papers
NM_000303.3
p.P69T
c.205C>A
21 papers
NM_000303.3
p.P69S
c.205C>T
1 paper
NM_000303.3
p.P69Q
c.206C>A
1 paper
NM_000303.3
p.P69R
c.206C>G
3 papers
NM_000303.3
p.P69L
c.206C>T
1 paper
NM_000303.3
p.F68L
c.204T>A
1 paper
NM_000303.3
p.F68L
c.204T>G
1 paper
NM_000303.3
p.F68Y
c.203T>A
1 paper
NM_000303.3
p.F68S
c.203T>C
6 papers
NM_000303.3
p.F68C
c.203T>G
18 papers
NM_000303.3
p.E70K
c.208G>A
1 paper
NM_000303.3
p.E70Q
c.208G>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."