Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.E54D

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.E54D
c.162G>C
Surrounding Variants
1 paper
NM_000303.3
p.E54E
c.162G>A
1 paper
NM_000303.3
p.E54D
c.162G>T
5 papers
NM_000303.3
p.E54insFs
c.161_162insG
1 paper
NM_000303.3
p.E54insFs
c.161_162insGC
1 paper
NM_000303.3
p.E54A
c.161A>C
1 paper
NM_000303.3
p.E54G
c.161A>G
1 paper
NM_000303.3
p.E54V
c.161A>T
1 paper
NM_000303.3
p.Q55K
c.163C>A
1 paper
NM_000303.3
p.Q55E
c.163C>G
2 papers
NM_000303.3
p.Q55fs
c.163_164fs
1 paper
NM_000303.3
p.Q55P
c.164A>C
1 paper
NM_000303.3
p.Q55R
c.164A>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."