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GUK1

Synonyms
GMK
External resources
Summary
The protein encoded by this gene is an enzyme that catalyzes the transfer of a phosphate group from ATP to guanosine monophosphate (GMP) to form guanosine diphosphate (GDP). The encoded protein is thought to be a good target for cancer chemotherapy. Several transcript variants encoding different isoforms have been found for this gene.

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
2,673
Likely benign
1,277
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on GUK1 gene.

Phenotype class
Patients in 3billion (%)

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