Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.N101T

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.N101T
c.302A>C
Surrounding Variants
2 papers
NM_000303.3
p.N101S
c.302A>G
1 paper
NM_000303.3
p.N101I
c.302A>T
1 paper
NM_000303.3
p.N101H
c.301A>C
2 papers
NM_000303.3
p.N101D
c.301A>G
1 paper
NM_000303.3
p.N101Y
c.301A>T
10 papers
NM_000303.3
p.N101K
c.303C>A
10 papers
NM_000303.3
p.N101K
c.303C>G
1 paper
NM_000303.3
p.I100M
c.300C>G
1 paper
NM_000303.3
p.Y102N
c.304T>A
1 paper
NM_000303.3
p.Y102H
c.304T>C
1 paper
NM_000303.3
p.Y102D
c.304T>G
1 paper
NM_000303.3
p.Y102S
c.305A>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."