Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.E121K

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.E121K
c.361G>A
Surrounding Variants
1 paper
NM_000303.3
p.E121Q
c.361G>C
1 paper
NM_000303.3
p.E121A
c.362A>C
1 paper
NM_000303.3
p.E121G
c.362A>G
1 paper
NM_000303.3
p.E121V
c.362A>T
3 papers
NM_000303.3
p.I120M
c.360T>G
1 paper
NM_000303.3
p.E121D
c.363A>C
1 paper
NM_000303.3
p.E121D
c.363A>T
2 papers
NM_000303.3
p.I120N
c.359T>A
16 papers
NM_000303.3
p.I120T
c.359T>C
1 paper
NM_000303.3
p.I120S
c.359T>G
2 papers
NM_000303.3
p.I120L
c.358A>C
1 paper
NM_000303.3
p.I120V
c.358A>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."