Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.L244delFs

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.L244delFs
c.732delG
Surrounding Variants
1 paper
NM_000303.3
p.L244R
c.731T>G
1 paper
NM_000303.3
p.F245del1
c.733_734delTTC
6 papers
NM_000303.3
p.L243P
c.728T>C
2 papers
NM_000303.3
p.L243_L244del2
c.727_731del6
1 paper
NM_000303.3
p.E242K
c.724G>A
1 paper
NM_000303.3
p.C241W
c.723T>G
2 papers
NM_000303.3
p.C241Y
c.722G>A
79 papers
NM_000303.3
p.C241S
c.722G>C
75 papers
NM_000303.3
p.C241S
c.721T>A
2 papers
NM_000303.3
p.R239S
c.717G>C
2 papers
NM_000303.3
p.R239S
c.717G>T
11 papers
NM_000303.3
p.R239W
c.715A>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."