Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.K111I

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.K111I
c.332A>T
Surrounding Variants
1 paper
NM_000303.3
p.K111T
c.332A>C
1 paper
NM_000303.3
p.K111R
c.332A>G
2 papers
NM_000303.3
p.K111N
c.333A>C
1 paper
NM_000303.3
p.K111Q
c.331A>C
1 paper
NM_000303.3
p.K111E
c.331A>G
2 papers
NM_000303.3
p.K111N
c.333A>T
1 paper
NM_000303.3
p.L112I
c.334C>A
2 papers
NM_000303.3
p.L112V
c.334C>G
1 paper
NM_000303.3
p.L112F
c.334C>T
1 paper
NM_000303.3
p.I110M
c.330T>G
1 paper
NM_000303.3
p.I110N
c.329T>A
1 paper
NM_000303.3
p.L112H
c.335T>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."