Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.Q85L

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.Q85L
c.254A>T
Surrounding Variants
1 paper
NM_000303.3
p.Q85P
c.254A>C
1 paper
NM_000303.3
p.Q85R
c.254A>G
1 paper
NM_000303.3
p.Q85K
c.253C>A
1 paper
NM_000303.3
p.Q85fs
c.253_254fs
1 paper
NM_000303.3
p.Q85E
c.253C>G
1 paper
NM_000303.3
p.Q85delFs
c.254_255delAG
6 papers
NM_000303.3
p.Q85Q
c.255G>A
1 paper
NM_000303.3
p.Q85H
c.255G>C
1 paper
NM_000303.3
p.Q85H
c.255G>T
1 paper
NM_000303.3
p.R84S
c.252A>C
1 paper
NM_000303.3
p.R84S
c.252A>T
9 papers
NM_000303.3
p.Q85_N86Splc
c.255+1G>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."