Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.L170P

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.L170P
c.509T>C
Surrounding Variants
1 paper
NM_000303.3
p.L170H
c.509T>A
1 paper
NM_000303.3
p.L170R
c.509T>G
1 paper
NM_000303.3
p.L170I
c.508C>A
3 papers
NM_000303.3
p.T171insFs
c.511dupA
2 papers
NM_000303.3
p.L170V
c.508C>G
1 paper
NM_000303.3
p.L170F
c.508C>T
1 paper
NM_000303.3
p.T171fs
c.511_512fs
2 papers
NM_000303.3
p.T171R
c.512C>G
1 paper
NM_000303.3
p.G169D
c.506G>A
1 paper
NM_000303.3
p.G169A
c.506G>C
1 paper
NM_000303.3
p.G169V
c.506G>T
1 paper
NM_000303.3
p.G169S
c.505G>A
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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."