Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.Q37*

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
8 papers
NM_000303.3
p.Q37*
c.109C>T
Surrounding Variants
1 paper
NM_000303.3
p.Q37K
c.109C>A
1 paper
NM_000303.3
p.Q37E
c.109C>G
1 paper
NM_000303.3
p.Q37P
c.110A>C
1 paper
NM_000303.3
p.Q37R
c.110A>G
3 papers
NM_000303.3
p.Q37L
c.110A>T
1 paper
NM_000303.3
p.R36S
c.108G>C
1 paper
NM_000303.3
p.R36S
c.108G>T
1 paper
NM_000303.3
p.R36K
c.107G>A
1 paper
NM_000303.3
p.Q37Q
c.111G>A
7 papers
NM_000303.3
p.Q37H
c.111G>C
1 paper
NM_000303.3
p.R36T
c.107G>C
7 papers
NM_000303.3
p.Q37H
c.111G>T
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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."