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GTF2H3

Synonyms
BTF2, P34, TFB4, TFIIH
External resources
Summary
This gene encodes a member of the TFB4 family. The encoded protein is a subunit of the core-TFIIH basal transcription factor and localizes to the nucleus. The encoded protein is involved in RNA transcription by RNA polymerase II and nucleotide excision repair and associates with the Cdk-activating kinase complex. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 14.

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
8,097
Likely benign
1,146
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on GTF2H3 gene.

Phenotype class
Patients in 3billion (%)

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