Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.L35S

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.L35S
c.104T>C
Surrounding Variants
8 papers
NM_000303.3
p.L35*
c.104T>A
2 papers
NM_000303.3
p.L35W
c.104T>G
1 paper
NM_000303.3
p.L35F
c.105G>C
1 paper
NM_000303.3
p.L35F
c.105G>T
1 paper
NM_000303.3
p.L35M
c.103T>A
1 paper
NM_000303.3
p.L35V
c.103T>G
1 paper
NM_000303.3
p.K34N
c.102A>C
1 paper
NM_000303.3
p.R36G
c.106A>G
1 paper
NM_000303.3
p.K34N
c.102A>T
1 paper
NM_000303.3
p.R36W
c.106A>T
1 paper
NM_000303.3
p.K34T
c.101A>C
1 paper
NM_000303.3
p.K34R
c.101A>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."