Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.I87L

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.I87L
c.259A>C
Surrounding Variants
2 papers
NM_000303.3
p.I87V
c.259A>G
1 paper
NM_000303.3
p.I87F
c.259A>T
1 paper
NM_000303.3
p.N86K
c.258T>A
1 paper
NM_000303.3
p.I87N
c.260T>A
1 paper
NM_000303.3
p.I87T
c.260T>C
1 paper
NM_000303.3
p.N86K
c.258T>G
1 paper
NM_000303.3
p.I87S
c.260T>G
1 paper
NM_000303.3
p.N86T
c.257A>C
1 paper
NM_000303.3
p.N86S
c.257A>G
2 papers
NM_000303.3
p.N86I
c.257A>T
2 papers
NM_000303.3
p.I87M
c.261T>G
1 paper
NM_000303.3
p.N86H
c.256A>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."