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KAT2A

Synonyms
GCN5, GCN5L2, PCAF-b, hGCN5
External resources
Summary
KAT2A, or GCN5, is a histone acetyltransferase (HAT) that functions primarily as a transcriptional activator. It also functions as a repressor of NF-kappa-B (see MIM 164011) by promoting ubiquitination of the NF-kappa-B subunit RELA (MIM 164014) in a HAT-independent manner (Mao et al., 2009 [PubMed 19339690]).

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
5,352
Likely benign
3,157
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on KAT2A gene.

Phenotype class
Patients in 3billion (%)

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