Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.P113L

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
100 papers
NM_000303.3
p.P113L
c.338C>T
Surrounding Variants
1 paper
NM_000303.3
p.P113Q
c.338C>A
2 papers
NM_000303.3
p.P113R
c.338C>G
8 papers
NM_000303.3
p.P113T
c.337C>A
4 papers
NM_000303.3
p.P113A
c.337C>G
6 papers
NM_000303.3
p.P113S
c.337C>T
1 paper
NM_000303.3
p.K114Q
c.340A>C
2 papers
NM_000303.3
p.K114E
c.340A>G
1 paper
NM_000303.3
p.K114*
c.340A>T
1 paper
NM_000303.3
p.K114T
c.341A>C
2 papers
NM_000303.3
p.K114R
c.341A>G
1 paper
NM_000303.3
p.K114M
c.341A>T
1 paper
NM_000303.3
p.L112H
c.335T>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."