Varaico: Literature-Extracted Genetic Variants

Gene:PMM1
Variant:p.C250Y

PMM1

36 papers

RefSeq Summary

Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis. GDP-mannose is used for synthesis of dolichol-phosph...

Pfam Domains

PMMaa 35–256UCSCEukaryotic phosphomannomutase

Gene Aliases

HGNC Name

phosphomannomutase 1

HGNC Alias Symbol

Sec53

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002676.3
p.C250Y
c.749G>A
Surrounding Variants
1 paper
NM_002676.3
p.R251W
c.751C>T
1 paper
NM_002676.3
p.H238D
c.712C>G
1 paper
NM_002676.3
p.D232N
c.694G>A
1 paper
NM_002676.3
p.E219K
c.655G>A
1 paper
NM_002676.3
p.N218D
c.652A>G
1 paper
NM_002676.3
p.F192C
c.575T>G
1 paper
NM_002676.3
p.R180T
c.539G>C
1 paper
NM_002676.3
p.R180K
c.539G>A
1 paper
NM_002676.3
p.G176G
c.528C>T
1 paper
NM_002676.3
p.G176V
c.527G>T
1 paper
NM_002676.3
p.A175P
c.523G>C
3 papers
NM_002676.3
p.E155K
c.463G>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."