Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.Y64C

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
17 papers
NM_000303.3
p.Y64C
c.191A>G
Surrounding Variants
5 papers
NM_000303.3
p.Y64S
c.191A>C
1 paper
NM_000303.3
p.Y64F
c.191A>T
8 papers
NM_000303.3
p.Y64*
c.192C>G
1 paper
NM_000303.3
p.Y64N
c.190T>A
1 paper
NM_000303.3
p.Y64H
c.190T>C
1 paper
NM_000303.3
p.Y64D
c.190T>G
1 paper
NM_000303.3
p.K63N
c.189A>C
1 paper
NM_000303.3
p.K63N
c.189A>T
1 paper
NM_000303.3
p.Y64delFs
c.190delT
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
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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."