Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.E121D

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.E121D
c.363A>C
Surrounding Variants
1 paper
NM_000303.3
p.E121D
c.363A>T
1 paper
NM_000303.3
p.E121A
c.362A>C
1 paper
NM_000303.3
p.E121G
c.362A>G
1 paper
NM_000303.3
p.E121V
c.362A>T
1 paper
NM_000303.3
p.F122I
c.364T>A
6 papers
NM_000303.3
p.F122L
c.364T>C
2 papers
NM_000303.3
p.F122V
c.364T>G
1 paper
NM_000303.3
p.E121K
c.361G>A
1 paper
NM_000303.3
p.E121Q
c.361G>C
1 paper
NM_000303.3
p.F122Y
c.365T>A
1 paper
NM_000303.3
p.F122S
c.365T>C
1 paper
NM_000303.3
p.F122C
c.365T>G
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."