Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.I107S

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.I107S
c.320T>G
Surrounding Variants
1 paper
NM_000303.3
p.I107N
c.320T>A
1 paper
NM_000303.3
p.I107T
c.320T>C
1 paper
NM_000303.3
p.I107L
c.319A>C
4 papers
NM_000303.3
p.I107V
c.319A>G
1 paper
NM_000303.3
p.I107F
c.319A>T
1 paper
NM_000303.3
p.I107M
c.321T>G
1 paper
NM_000303.3
p.A108T
c.322G>A
2 papers
NM_000303.3
p.A108P
c.322G>C
2 papers
NM_000303.3
p.A108S
c.322G>T
1 paper
NM_000303.3
p.Y106S
c.317A>C
11 papers
NM_000303.3
p.Y106C
c.317A>G
10 papers
NM_000303.3
p.Y106F
c.317A>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."