Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.V60G

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.V60G
c.179T>G
Surrounding Variants
2 papers
NM_000303.3
p.V60Splc
c.178+1G>A
1 paper
NM_000303.3
p.V60E
c.179T>A
1 paper
NM_000303.3
p.V60A
c.179T>C
3 papers
NM_000303.3
p.V60M
c.178G>A
7 papers
NM_000303.3
p.V60L
c.178G>C
8 papers
NM_000303.3
p.V60L
c.178G>T
1 paper
NM_000303.3
p.V60Splc
c.178+2T>G
3 papers
NM_000303.3
p.V60Splc
c.178+3A>T
1 paper
NM_000303.3
p.D59E
c.177T>A
1 paper
NM_000303.3
p.D59E
c.177T>G
1 paper
NM_000303.3
p.D59A
c.176A>C
1 paper
NM_000303.3
p.D59G
c.176A>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."