Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.I39S

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.I39S
c.116T>G
Surrounding Variants
1 paper
NM_000303.3
p.I39N
c.116T>A
1 paper
NM_000303.3
p.I39T
c.116T>C
1 paper
NM_000303.3
p.I39L
c.115A>C
1 paper
NM_000303.3
p.I39V
c.115A>G
1 paper
NM_000303.3
p.I39F
c.115A>T
1 paper
NM_000303.3
p.I39M
c.117C>G
1 paper
NM_000303.3
p.K40Q
c.118A>C
1 paper
NM_000303.3
p.K40E
c.118A>G
1 paper
NM_000303.3
p.K38K
c.114G>A
1 paper
NM_000303.3
p.K38N
c.114G>C
1 paper
NM_000303.3
p.K38N
c.114G>T
1 paper
NM_000303.3
p.K38T
c.113A>C
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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."