Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.K34T

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.K34T
c.101A>C
Surrounding Variants
1 paper
NM_000303.3
p.K34R
c.101A>G
1 paper
NM_000303.3
p.K34I
c.101A>T
1 paper
NM_000303.3
p.K34Q
c.100A>C
1 paper
NM_000303.3
p.K34N
c.102A>C
1 paper
NM_000303.3
p.K34E
c.100A>G
1 paper
NM_000303.3
p.K34N
c.102A>T
1 paper
NM_000303.3
p.Q33H
c.99A>C
1 paper
NM_000303.3
p.Q33H
c.99A>T
1 paper
NM_000303.3
p.L35M
c.103T>A
1 paper
NM_000303.3
p.L35V
c.103T>G
13 papers
NM_000303.3
p.Q33P
c.98A>C
1 paper
NM_000303.3
p.Q33R
c.98A>G
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."