Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.K149_K150Splc

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.K149_K150Splc
c.448-2A>T
Surrounding Variants
1 paper
NM_000303.3
p.K149_K150Splc
c.448-2A>G
3 papers
NM_000303.3
p.E151_N152delFs
c.451_454del4
1 paper
NM_000303.3
p.K149_K150Splc
c.448-1G>A
1 paper
NM_000303.3
p.K149_K150Splc
c.448-1G>C
1 paper
NM_000303.3
p.K150Q
c.448A>C
1 paper
NM_000303.3
p.K150E
c.448A>G
1 paper
NM_000303.3
p.K150T
c.449A>C
1 paper
NM_000303.3
p.K150R
c.449A>G
1 paper
NM_000303.3
p.K150I
c.449A>T
1 paper
NM_000303.3
p.K150N
c.450A>C
1 paper
NM_000303.3
p.K150N
c.450A>T
2 papers
NM_000303.3
p.E151K
c.451G>A
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