Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.E151V

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.E151V
c.452A>T
Surrounding Variants
1 paper
NM_000303.3
p.E151A
c.452A>C
10 papers
NM_000303.3
p.E151G
c.452A>G
1 paper
NM_000303.3
p.E151D
c.453A>C
1 paper
NM_000303.3
p.E151D
c.453A>T
2 papers
NM_000303.3
p.E151K
c.451G>A
1 paper
NM_000303.3
p.E151Q
c.451G>C
1 paper
NM_000303.3
p.N152delFs
c.454_455delAA
2 papers
NM_000303.3
p.E151fs
c.451_452fs
1 paper
NM_000303.3
p.K150N
c.450A>C
1 paper
NM_000303.3
p.N152H
c.454A>C
2 papers
NM_000303.3
p.N152D
c.454A>G
1 paper
NM_000303.3
p.K150N
c.450A>T
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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."