Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.K163Q

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
2 papers
NM_000303.3
p.K163Q
c.487A>C
Surrounding Variants
1 paper
NM_000303.3
p.K163E
c.487A>G
1 paper
NM_000303.3
p.K163T
c.488A>C
2 papers
NM_000303.3
p.K163R
c.488A>G
1 paper
NM_000303.3
p.K163I
c.488A>T
1 paper
NM_000303.3
p.K163N
c.489A>C
1 paper
NM_000303.3
p.K163N
c.489A>T
1 paper
NM_000303.3
p.R162Q
c.485G>A
2 papers
NM_000303.3
p.R162P
c.485G>C
2 papers
NM_000303.3
p.R162L
c.485G>T
1 paper
NM_000303.3
p.K163_E164delFs
c.488_491del4
1 paper
NM_000303.3
p.R162G
c.484C>G
48 papers
NM_000303.3
p.R162W
c.484C>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."