Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.L147I

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.L147I
c.439C>A
Surrounding Variants
1 paper
NM_000303.3
p.L147fs
c.439_440fs
1 paper
NM_000303.3
p.L147V
c.439C>G
3 papers
NM_000303.3
p.L147F
c.439C>T
1 paper
NM_000303.3
p.E146D
c.438A>C
1 paper
NM_000303.3
p.E146D
c.438A>T
1 paper
NM_000303.3
p.L147H
c.440T>A
1 paper
NM_000303.3
p.L147P
c.440T>C
1 paper
NM_000303.3
p.L147R
c.440T>G
1 paper
NM_000303.3
p.E146A
c.437A>C
1 paper
NM_000303.3
p.E146G
c.437A>G
1 paper
NM_000303.3
p.E146V
c.437A>T
32 papers
NM_000303.3
p.D148N
c.442G>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."