Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.K163I

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.K163I
c.488A>T
Surrounding Variants
1 paper
NM_000303.3
p.K163T
c.488A>C
2 papers
NM_000303.3
p.K163R
c.488A>G
2 papers
NM_000303.3
p.K163Q
c.487A>C
1 paper
NM_000303.3
p.K163N
c.489A>C
1 paper
NM_000303.3
p.K163E
c.487A>G
1 paper
NM_000303.3
p.K163N
c.489A>T
1 paper
NM_000303.3
p.E164K
c.490G>A
1 paper
NM_000303.3
p.E164Q
c.490G>C
1 paper
NM_000303.3
p.E164fs
c.490_491fs
1 paper
NM_000303.3
p.E164A
c.491A>C
1 paper
NM_000303.3
p.E164G
c.491A>G
1 paper
NM_000303.3
p.E164V
c.491A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."