Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.P213_G214Splc

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
15 papers
NM_000303.3
p.P213_G214Splc
c.640-9T>G
Surrounding Variants
2 papers
NM_000303.3
p.P213_G214Splc
c.640-9T>A
2 papers
NM_000303.3
p.P213_G214Splc
c.640-9T>C
1 paper
NM_000303.3
p.P213_G214Splc
c.640-10G>A
13 papers
NM_000303.3
p.G214S
c.640G>A
2 papers
NM_000303.3
p.G214R
c.640G>C
1 paper
NM_000303.3
p.G214C
c.640G>T
1 paper
NM_000303.3
p.G215_P224delFs
c.645_670del26
8 papers
NM_000303.3
p.P213_G214Splc
c.640-23A>G
2 papers
NM_000303.3
p.N216D
c.646A>G
1 paper
NM_000303.3
p.N216T
c.647A>C
15 papers
NM_000303.3
p.N216S
c.647A>G
43 papers
NM_000303.3
p.N216I
c.647A>T
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