Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.I96F

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.I96F
c.286A>T
Surrounding Variants
1 paper
NM_000303.3
p.I96L
c.286A>C
1 paper
NM_000303.3
p.I96V
c.286A>G
2 papers
NM_000303.3
p.I96N
c.287T>A
3 papers
NM_000303.3
p.I96T
c.287T>C
1 paper
NM_000303.3
p.I96S
c.287T>G
1 paper
NM_000303.3
p.I96M
c.288C>G
1 paper
NM_000303.3
p.L95Q
c.284T>A
1 paper
NM_000303.3
p.L95P
c.284T>C
1 paper
NM_000303.3
p.L95R
c.284T>G
1 paper
NM_000303.3
p.L95I
c.283C>A
1 paper
NM_000303.3
p.Q97K
c.289C>A
1 paper
NM_000303.3
p.L95V
c.283C>G
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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."