Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.L161_R162insG

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
5 papers
NM_000303.3
p.L161_R162insG
c.481_485ins3
Surrounding Variants
1 paper
NM_000303.3
p.L161I
c.481C>A
1 paper
NM_000303.3
p.L161_R162ins5
c.481_485ins15
1 paper
NM_000303.3
p.L161V
c.481C>G
1 paper
NM_000303.3
p.D160E
c.480T>A
1 paper
NM_000303.3
p.L161Q
c.482T>A
1 paper
NM_000303.3
p.L161P
c.482T>C
1 paper
NM_000303.3
p.D160E
c.480T>G
1 paper
NM_000303.3
p.L161R
c.482T>G
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
1 paper
NM_000303.3
p.R162G
c.484C>G
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