Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.V67L

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.V67L
c.199G>C
Surrounding Variants
8 papers
NM_000303.3
p.V67M
c.199G>A
1 paper
NM_000303.3
p.V67L
c.199G>T
1 paper
NM_000303.3
p.V67E
c.200T>A
1 paper
NM_000303.3
p.V67A
c.200T>C
9 papers
NM_000303.3
p.V67G
c.200T>G
1 paper
NM_000303.3
p.Y66S
c.197A>C
1 paper
NM_000303.3
p.Y66C
c.197A>G
1 paper
NM_000303.3
p.Y66F
c.197A>T
1 paper
NM_000303.3
p.V67_F68delFs
c.201_202delGT
1 paper
NM_000303.3
p.Y66N
c.196T>A
1 paper
NM_000303.3
p.F68I
c.202T>A
1 paper
NM_000303.3
p.Y66H
c.196T>C
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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."