Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.T118I

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
5 papers
NM_000303.3
p.T118I
c.353C>T
Surrounding Variants
1 paper
NM_000303.3
p.T118N
c.353C>A
17 papers
NM_000303.3
p.T118S
c.353C>G
1 paper
NM_000303.3
p.T118P
c.352A>C
3 papers
NM_000303.3
p.T118A
c.352A>G
16 papers
NM_000303.3
p.T118S
c.352A>T
1 paper
NM_000303.3
p.F119I
c.355T>A
145 papers
NM_000303.3
p.F119L
c.355T>C
1 paper
NM_000303.3
p.F119V
c.355T>G
1 paper
NM_000303.3
p.G117D
c.350G>A
1 paper
NM_000303.3
p.G117A
c.350G>C
1 paper
NM_000303.3
p.G117V
c.350G>T
1 paper
NM_000303.3
p.F119Y
c.356T>A
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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."