Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.K40N

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.K40N
c.120A>T
Surrounding Variants
1 paper
NM_000303.3
p.K40N
c.120A>C
1 paper
NM_000303.3
p.K40T
c.119A>C
1 paper
NM_000303.3
p.I41L
c.121A>C
1 paper
NM_000303.3
p.K40R
c.119A>G
1 paper
NM_000303.3
p.I41V
c.121A>G
1 paper
NM_000303.3
p.K40I
c.119A>T
1 paper
NM_000303.3
p.I41F
c.121A>T
1 paper
NM_000303.3
p.K40Q
c.118A>C
1 paper
NM_000303.3
p.K40E
c.118A>G
1 paper
NM_000303.3
p.I41N
c.122T>A
1 paper
NM_000303.3
p.I41T
c.122T>C
1 paper
NM_000303.3
p.I41S
c.122T>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."