Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.I132T

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
49 papers
NM_000303.3
p.I132T
c.395T>C
Surrounding Variants
10 papers
NM_000303.3
p.I132N
c.395T>A
1 paper
NM_000303.3
p.I132S
c.395T>G
1 paper
NM_000303.3
p.I132insFs
c.396dupT
1 paper
NM_000303.3
p.I132L
c.394A>C
2 papers
NM_000303.3
p.I132V
c.394A>G
8 papers
NM_000303.3
p.I132F
c.394A>T
1 paper
NM_000303.3
p.I132M
c.396T>G
1 paper
NM_000303.3
p.G133R
c.397G>A
1 paper
NM_000303.3
p.G133R
c.397G>C
1 paper
NM_000303.3
p.P131H
c.392C>A
1 paper
NM_000303.3
p.P131R
c.392C>G
1 paper
NM_000303.3
p.P131L
c.392C>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."