Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.L104R

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.L104R
c.311T>G
Surrounding Variants
1 paper
NM_000303.3
p.L104Q
c.311T>A
1 paper
NM_000303.3
p.L104Fs
c.311delinsACFs
1 paper
NM_000303.3
p.L104P
c.311T>C
1 paper
NM_000303.3
p.L104M
c.310C>A
13 papers
NM_000303.3
p.L104V
c.310C>G
1 paper
NM_000303.3
p.L104delins
c.310_311delinsAC
2 papers
NM_000303.3
p.S105R
c.313A>C
2 papers
NM_000303.3
p.S105G
c.313A>G
2 papers
NM_000303.3
p.S105C
c.313A>T
1 paper
NM_000303.3
p.C103*
c.309T>A
2 papers
NM_000303.3
p.C103W
c.309T>G
2 papers
NM_000303.3
p.S105N
c.314G>A
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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."