Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.A159E

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.A159E
c.476C>A
Surrounding Variants
1 paper
NM_000303.3
p.A159G
c.476C>G
1 paper
NM_000303.3
p.A159V
c.476C>T
1 paper
NM_000303.3
p.A159T
c.475G>A
1 paper
NM_000303.3
p.A159P
c.475G>C
1 paper
NM_000303.3
p.A159S
c.475G>T
1 paper
NM_000303.3
p.D160N
c.478G>A
1 paper
NM_000303.3
p.D160H
c.478G>C
4 papers
NM_000303.3
p.D160_L161insG
c.478_482ins3
1 paper
NM_000303.3
p.D160Y
c.478G>T
1 paper
NM_000303.3
p.D160A
c.479A>C
1 paper
NM_000303.3
p.D160G
c.479A>G
1 paper
NM_000303.3
p.D160V
c.479A>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."