Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.R154S

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.R154S
c.462A>C
Surrounding Variants
1 paper
NM_000303.3
p.R154S
c.462A>T
1 paper
NM_000303.3
p.Q155K
c.463C>A
1 paper
NM_000303.3
p.Q155E
c.463C>G
1 paper
NM_000303.3
p.Q155*
c.463C>T
1 paper
NM_000303.3
p.R154K
c.461G>A
1 paper
NM_000303.3
p.R154T
c.461G>C
1 paper
NM_000303.3
p.R154I
c.461G>T
1 paper
NM_000303.3
p.Q155P
c.464A>C
1 paper
NM_000303.3
p.R154G
c.460A>G
1 paper
NM_000303.3
p.Q155R
c.464A>G
1 paper
NM_000303.3
p.R154*
c.460A>T
1 paper
NM_000303.3
p.Q155L
c.464A>T
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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."