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DOLPP1

Synonyms
LSFR2
External resources
Summary
A similar gene has been characterized in mice and encodes dolichyl pyrophosphate (Dol-P-P) phosphatase. This protein dephosphorylates dolichyl pyrophosphate so that it may be re-utilized as a glycosyl carrier lipid by the oligosaccharyltransferase multisubunit complex in the ER. Alternative splicing results in multiple transcript variants and protein isoforms.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
10,728
Likely benign
333
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on DOLPP1 gene.

Phenotype class
Patients in 3billion (%)

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