Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.K114M

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.K114M
c.341A>T
Surrounding Variants
1 paper
NM_000303.3
p.K114T
c.341A>C
2 papers
NM_000303.3
p.K114R
c.341A>G
1 paper
NM_000303.3
p.K114Q
c.340A>C
2 papers
NM_000303.3
p.K114E
c.340A>G
1 paper
NM_000303.3
p.K114*
c.340A>T
1 paper
NM_000303.3
p.K114N
c.342G>C
1 paper
NM_000303.3
p.K114N
c.342G>T
1 paper
NM_000303.3
p.K115Q
c.343A>C
1 paper
NM_000303.3
p.K115E
c.343A>G
1 paper
NM_000303.3
p.K115insFs
c.345dupG
2 papers
NM_000303.3
p.K115T
c.344A>C
1 paper
NM_000303.3
p.K115R
c.344A>G
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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."