Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.V61L

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.V61L
c.181G>C
Surrounding Variants
1 paper
NM_000303.3
p.V61I
c.181G>A
2 papers
NM_000303.3
p.V61F
c.181G>T
1 paper
NM_000303.3
p.V61D
c.182T>A
1 paper
NM_000303.3
p.V61A
c.182T>C
1 paper
NM_000303.3
p.V61G
c.182T>G
1 paper
NM_000303.3
p.V60fs
c.178_179fs
1 paper
NM_000303.3
p.E62K
c.184G>A
1 paper
NM_000303.3
p.V60Splc
c.179-1G>C
1 paper
NM_000303.3
p.E62Q
c.184G>C
1 paper
NM_000303.3
p.V60Splc
c.179-1G>T
1 paper
NM_000303.3
p.E62A
c.185A>C
1 paper
NM_000303.3
p.E62G
c.185A>G
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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."