Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.Q53E

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.Q53E
c.157C>G
Surrounding Variants
1 paper
NM_000303.3
p.Q53K
c.157C>A
2 papers
NM_000303.3
p.Q53*
c.157C>T
7 papers
NM_000303.3
p.E54insFs
c.160dupG
1 paper
NM_000303.3
p.Q53P
c.158A>C
1 paper
NM_000303.3
p.Q53R
c.158A>G
1 paper
NM_000303.3
p.Q53L
c.158A>T
1 paper
NM_000303.3
p.Q53H
c.159G>C
1 paper
NM_000303.3
p.E54insFs
c.161_162ins5
1 paper
NM_000303.3
p.Q53H
c.159G>T
1 paper
NM_000303.3
p.V52E
c.155T>A
1 paper
NM_000303.3
p.V52A
c.155T>C
3 papers
NM_000303.3
p.V52G
c.155T>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."