Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.C83Y

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.C83Y
c.248G>A
Surrounding Variants
1 paper
NM_000303.3
p.C83S
c.248G>C
1 paper
NM_000303.3
p.C83F
c.248G>T
1 paper
NM_000303.3
p.C83S
c.247T>A
1 paper
NM_000303.3
p.C83R
c.247T>C
1 paper
NM_000303.3
p.C83G
c.247T>G
1 paper
NM_000303.3
p.C83W
c.249T>G
1 paper
NM_000303.3
p.R84G
c.250A>G
1 paper
NM_000303.3
p.L82F
c.246G>C
1 paper
NM_000303.3
p.L82F
c.246G>T
1 paper
NM_000303.3
p.R84K
c.251G>A
1 paper
NM_000303.3
p.R84T
c.251G>C
1 paper
NM_000303.3
p.R84I
c.251G>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."