Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.N216S

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.N216S
c.647A>G
Surrounding Variants
1 paper
NM_000303.3
p.N216T
c.647A>C
43 papers
NM_000303.3
p.N216I
c.647A>T
2 papers
NM_000303.3
p.N216D
c.646A>G
1 paper
NM_000303.3
p.D217G
c.650A>G
1 paper
NM_000303.3
p.G215_P224delFs
c.645_670del26
7 papers
NM_000303.3
p.D217E
c.651C>A
7 papers
NM_000303.3
p.D217E
c.651C>G
4 papers
NM_000303.3
p.H218D
c.652C>G
12 papers
NM_000303.3
p.H218L
c.653A>T
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
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."