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NUDT4

Synonyms
DIPP-2B, DIPP2, DIPP2alpha, DIPP2beta, HDCMB47P, NUDT4B
External resources
Summary
The protein encoded by this gene regulates the turnover of diphosphoinositol polyphosphates. The turnover of these high-energy diphosphoinositol polyphosphates represents a molecular switching activity with important regulatory consequences. Molecular switching by diphosphoinositol polyphosphates may contribute to regulating intracellular trafficking. Several alternatively spliced transcript variants have been described, but the full-length nature of some variants has not been determined. Isoforms DIPP2alpha and DIPP2beta are distinguishable from each other solely by DIPP2beta possessing one additional amino acid due to intron boundary skidding in alternate splicing.

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
2,736
Likely benign
219
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on NUDT4 gene.

Phenotype class
Patients in 3billion (%)

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