Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.L81I

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
2 papers
NM_000303.3
p.L81I
c.241C>A
Surrounding Variants
1 paper
NM_000303.3
p.L81V
c.241C>G
1 paper
NM_000303.3
p.L81F
c.241C>T
1 paper
NM_000303.3
p.K80N
c.240A>C
1 paper
NM_000303.3
p.K80N
c.240A>T
2 papers
NM_000303.3
p.L81_L82delFs
c.243_244delCT
1 paper
NM_000303.3
p.L81H
c.242T>A
1 paper
NM_000303.3
p.L81P
c.242T>C
1 paper
NM_000303.3
p.L81R
c.242T>G
1 paper
NM_000303.3
p.K80T
c.239A>C
1 paper
NM_000303.3
p.K80R
c.239A>G
1 paper
NM_000303.3
p.K80I
c.239A>T
1 paper
NM_000303.3
p.K80Q
c.238A>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."