Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.H90Q

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.H90Q
c.270T>G
Surrounding Variants
1 paper
NM_000303.3
p.H90Q
c.270T>A
1 paper
NM_000303.3
p.H90P
c.269A>C
1 paper
NM_000303.3
p.H90R
c.269A>G
1 paper
NM_000303.3
p.H90L
c.269A>T
1 paper
NM_000303.3
p.L91M
c.271C>A
1 paper
NM_000303.3
p.L91V
c.271C>G
1 paper
NM_000303.3
p.H90N
c.268C>A
1 paper
NM_000303.3
p.H90D
c.268C>G
1 paper
NM_000303.3
p.H90Y
c.268C>T
1 paper
NM_000303.3
p.L91Q
c.272T>A
1 paper
NM_000303.3
p.L91P
c.272T>C
1 paper
NM_000303.3
p.L91R
c.272T>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."