Varaico: Literature-Extracted Genetic Variants

Gene:PMM1

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
1–12 of 29 variants
3 papers
NM_002676.3
p.D65Y
c.193G>T
3 papers
NM_002676.3
p.E155K
c.463G>A
2 papers
NM_002676.3
p.L119L
c.357C>A
1 paper
NM_002676.3
p.A5S
c.13G>T
1 paper
NM_002676.3
p.A8S
c.22G>T
1 paper
NM_002676.3
p.R9H
c.26G>A
1 paper
NM_002676.3
p.R13R
c.39C>T
1 paper
NM_002676.3
p.D19E
c.57C>G
1 paper
NM_002676.3
p.D19E
c.57C>A
1 paper
NM_002676.3
p.A37T
c.109G>A
1 paper
NM_002676.3
p.D67N
c.199G>A
1 paper
NM_002676.3
p.I70M
c.210T>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."