Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.S137R

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.S137R
c.411C>G
Surrounding Variants
1 paper
NM_000303.3
p.S137R
c.411C>A
1 paper
NM_000303.3
p.Q138K
c.412C>A
3 papers
NM_000303.3
p.Q138E
c.412C>G
1 paper
NM_000303.3
p.Q138delFs
c.414delA
1 paper
NM_000303.3
p.S137N
c.410G>A
2 papers
NM_000303.3
p.S137T
c.410G>C
1 paper
NM_000303.3
p.S137I
c.410G>T
1 paper
NM_000303.3
p.S137R
c.409A>C
1 paper
NM_000303.3
p.Q138P
c.413A>C
1 paper
NM_000303.3
p.S137G
c.409A>G
1 paper
NM_000303.3
p.Q138R
c.413A>G
1 paper
NM_000303.3
p.S137C
c.409A>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."