GTF2H1
general transcription factor IIH subunit 1
Summary
Enables nuclear thyroid hormone receptor binding activity. Involved in positive regulation of DNA-templated transcription and transcription initiation at RNA polymerase II promoter. Located in nucleoplasm. Part of transcription factor TFIIH core complex and transcription factor TFIIH holo complex. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants35 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4150542 | 11:18,345,848 | G/A | upstream gene variant | — |
| rs11024622 | 11:18,352,685 | C/A | — | — |
| rs781375142 | 11:18,354,754 | C/T | — | uncertain significance |
| rs551959263 | 11:18,355,124 | T/C | — | — |
| rs4150581 | 11:18,357,270 | A/G | intron variant | — |
| rs766475976 | 11:18,357,365 | C/A | — | uncertain significance |
| rs767855958 | 11:18,357,369 | A/G | — | uncertain significance |
| rs757607313 | 11:18,357,388 | A/G | — | uncertain significance |
| rs1865014013 | 11:18,357,391 | A/G | — | uncertain significance |
| rs1464658946 | 11:18,357,394 | G/A | — | uncertain significance |
| rs151273343 | 11:18,357,419 | A/G | — | benign |
| rs1865078829 | 11:18,359,798 | G/C | — | uncertain significance |
| rs77885959 | 11:18,362,382 | T/G | intron variant | — |
| rs372368803 | 11:18,362,901 | G/A | — | uncertain significance |
| rs1865152177 | 11:18,362,938 | T/G | — | uncertain significance |
| rs2494487455 | 11:18,363,134 | G/A | — | uncertain significance |
| rs2494487474 | 11:18,363,143 | C/A | — | uncertain significance |
| rs144690576 | 11:18,369,135 | G/A | — | uncertain significance |
| rs778919959 | 11:18,369,196 | A/G | — | uncertain significance |
| rs143293506 | 11:18,369,438 | C/G | — | uncertain significance |
| rs4150642 | 11:18,370,898 | G/A | — | — |
| rs773503519 | 11:18,373,482 | A/C | — | uncertain significance |
| rs1411431678 | 11:18,373,486 | C/T | — | uncertain significance |
| rs1673806599 | 11:18,373,515 | A/G | — | uncertain significance |
| rs2494522347 | 11:18,373,933 | T/G | — | uncertain significance |
| rs757919966 | 11:18,373,971 | C/T | — | uncertain significance |
| rs373262636 | 11:18,379,553 | G/T | — | uncertain significance |
| rs1421074843 | 11:18,379,554 | C/T | — | uncertain significance |
| rs1865603151 | 11:18,379,571 | A/G | — | uncertain significance |
| rs138965123 | 11:18,380,094 | A/C | — | uncertain significance |
| rs369310017 | 11:18,382,231 | C/T | — | uncertain significance |
| rs750224253 | 11:18,382,239 | G/C | — | uncertain significance |
| rs4150678 | 11:18,384,170 | C/G | intron variant | — |
| rs9783347 | 11:18,384,938 | A/C | — | — |
| rs61754646 | 11:18,387,342 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.