Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.E164V

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.E164V
c.491A>T
Surrounding Variants
1 paper
NM_000303.3
p.E164A
c.491A>C
1 paper
NM_000303.3
p.E164G
c.491A>G
1 paper
NM_000303.3
p.E164delFs
c.492delG
1 paper
NM_000303.3
p.E164K
c.490G>A
1 paper
NM_000303.3
p.E164Q
c.490G>C
1 paper
NM_000303.3
p.E164D
c.492G>C
1 paper
NM_000303.3
p.E164D
c.492G>T
1 paper
NM_000303.3
p.E164fs
c.490_491fs
1 paper
NM_000303.3
p.K163N
c.489A>C
1 paper
NM_000303.3
p.K163N
c.489A>T
1 paper
NM_000303.3
p.F165I
c.493T>A
1 paper
NM_000303.3
p.F165L
c.493T>C
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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."