Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.N124K

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.N124K
c.372T>G
Surrounding Variants
1 paper
NM_000303.3
p.N124K
c.372T>A
1 paper
NM_000303.3
p.N124T
c.371A>C
1 paper
NM_000303.3
p.N124S
c.371A>G
1 paper
NM_000303.3
p.N124I
c.371A>T
1 paper
NM_000303.3
p.G125R
c.373G>A
1 paper
NM_000303.3
p.G125R
c.373G>C
1 paper
NM_000303.3
p.G125W
c.373G>T
1 paper
NM_000303.3
p.N124H
c.370A>C
2 papers
NM_000303.3
p.N124D
c.370A>G
1 paper
NM_000303.3
p.N124Y
c.370A>T
1 paper
NM_000303.3
p.G125E
c.374G>A
1 paper
NM_000303.3
p.G125A
c.374G>C
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."