Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.K23I

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.K23I
c.68A>T
Surrounding Variants
1 paper
NM_000303.3
p.K23T
c.68A>C
2 papers
NM_000303.3
p.K23R
c.68A>G
1 paper
NM_000303.3
p.K23Q
c.67A>C
1 paper
NM_000303.3
p.K23N
c.69A>C
1 paper
NM_000303.3
p.K23E
c.67A>G
1 paper
NM_000303.3
p.K23N
c.69A>T
1 paper
NM_000303.3
p.I24L
c.70A>C
1 paper
NM_000303.3
p.I24V
c.70A>G
1 paper
NM_000303.3
p.I24F
c.70A>T
1 paper
NM_000303.3
p.I24delFs
c.72delT
2 papers
NM_000303.3
p.Q22_K23Splc
c.67-1G>A
1 paper
NM_000303.3
p.Q22_K23Splc
c.67-1G>C
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