Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.D98G

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.D98G
c.293A>G
Surrounding Variants
1 paper
NM_000303.3
p.D98A
c.293A>C
1 paper
NM_000303.3
p.D98V
c.293A>T
2 papers
NM_000303.3
p.D98N
c.292G>A
1 paper
NM_000303.3
p.D98H
c.292G>C
1 paper
NM_000303.3
p.D98Y
c.292G>T
1 paper
NM_000303.3
p.D98delFs
c.293_294delAT
1 paper
NM_000303.3
p.D98E
c.294T>A
1 paper
NM_000303.3
p.D98E
c.294T>G
1 paper
NM_000303.3
p.Q97H
c.291A>C
1 paper
NM_000303.3
p.Q97H
c.291A>T
1 paper
NM_000303.3
p.L99I
c.295T>A
1 paper
NM_000303.3
p.L99V
c.295T>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."