Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.S135N

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
2 papers
NM_000303.3
p.S135N
c.404G>A
Surrounding Variants
2 papers
NM_000303.3
p.S135T
c.404G>C
1 paper
NM_000303.3
p.S135I
c.404G>T
2 papers
NM_000303.3
p.S135R
c.403A>C
1 paper
NM_000303.3
p.S135G
c.403A>G
1 paper
NM_000303.3
p.S135C
c.403A>T
2 papers
NM_000303.3
p.S135R
c.405C>A
2 papers
NM_000303.3
p.S135R
c.405C>G
1 paper
NM_000303.3
p.R134S
c.402A>C
1 paper
NM_000303.3
p.R134S
c.402A>T
1 paper
NM_000303.3
p.R134_S135Fs
c.402_404delinsTGAGTAAGGCFs
1 paper
NM_000303.3
p.C136S
c.406T>A
1 paper
NM_000303.3
p.C136R
c.406T>C
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."