Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.D65V

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.D65V
c.194A>T
Surrounding Variants
1 paper
NM_000303.3
p.Y66insFs
c.196dupT
1 paper
NM_000303.3
p.D65A
c.194A>C
4 papers
NM_000303.3
p.D65G
c.194A>G
1 paper
NM_000303.3
p.D65N
c.193G>A
1 paper
NM_000303.3
p.D65H
c.193G>C
66 papers
NM_000303.3
p.D65Y
c.193G>T
1 paper
NM_000303.3
p.D65E
c.195T>A
1 paper
NM_000303.3
p.D65E
c.195T>G
8 papers
NM_000303.3
p.Y64*
c.192C>G
1 paper
NM_000303.3
p.Y66N
c.196T>A
1 paper
NM_000303.3
p.Y66H
c.196T>C
1 paper
NM_000303.3
p.Y66D
c.196T>G
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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."