Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.L112H

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.L112H
c.335T>A
Surrounding Variants
1 paper
NM_000303.3
p.L112P
c.335T>C
1 paper
NM_000303.3
p.L112R
c.335T>G
1 paper
NM_000303.3
p.L112I
c.334C>A
2 papers
NM_000303.3
p.L112V
c.334C>G
1 paper
NM_000303.3
p.L112F
c.334C>T
2 papers
NM_000303.3
p.K111N
c.333A>C
2 papers
NM_000303.3
p.K111N
c.333A>T
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.K111T
c.332A>C
1 paper
NM_000303.3
p.K111R
c.332A>G
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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."