Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.F68I

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.F68I
c.202T>A
Surrounding Variants
1 paper
NM_000303.3
p.F68L
c.202T>C
1 paper
NM_000303.3
p.F68V
c.202T>G
1 paper
NM_000303.3
p.F68Y
c.203T>A
1 paper
NM_000303.3
p.F68S
c.203T>C
6 papers
NM_000303.3
p.F68C
c.203T>G
1 paper
NM_000303.3
p.V67E
c.200T>A
1 paper
NM_000303.3
p.F68L
c.204T>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.F68L
c.204T>G
2 papers
NM_000303.3
p.P69T
c.205C>A
1 paper
NM_000303.3
p.P69A
c.205C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."