Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.V231M

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
114 papers
NM_000303.3
p.V231M
c.691G>A
Surrounding Variants
1 paper
NM_000303.3
p.V231_T232del2
c.691_695del6
1 paper
NM_000303.3
p.Y229*
c.687C>A
1 paper
NM_000303.3
p.Y229*
c.687C>G
2 papers
NM_000303.3
p.T232delFs
c.696delA
14 papers
NM_000303.3
p.Y229S
c.686A>C
9 papers
NM_000303.3
p.A233T
c.697G>A
1 paper
NM_000303.3
p.A233fs
c.697_698fs
1 paper
NM_000303.3
p.A233fs
c.697_698fs
1 paper
NM_000303.3
p.G228G
c.684C>G
2 papers
NM_000303.3
p.A233V
c.698C>T
2 papers
NM_000303.3
p.A233A
c.699G>A
7 papers
NM_000303.3
p.G228R
c.682G>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."