Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.Y76C

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
12 papers
NM_000303.3
p.Y76C
c.227A>G
Surrounding Variants
1 paper
NM_000303.3
p.Y76S
c.227A>C
1 paper
NM_000303.3
p.Y76F
c.227A>T
1 paper
NM_000303.3
p.Y76Y
c.228C>T
1 paper
NM_000303.3
p.Y76N
c.226T>A
2 papers
NM_000303.3
p.Y76H
c.226T>C
1 paper
NM_000303.3
p.Y76D
c.226T>G
1 paper
NM_000303.3
p.K77Q
c.229A>C
1 paper
NM_000303.3
p.K77E
c.229A>G
1 paper
NM_000303.3
p.K77T
c.230A>C
1 paper
NM_000303.3
p.K77R
c.230A>G
2 papers
NM_000303.3
p.K77I
c.230A>T
1 paper
NM_000303.3
p.K77_D78delFs
c.231_232delAG
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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."