MLLT3
MLLT3 super elongation complex subunit
Summary
Enables chromatin binding activity; lysine-acetylated histone binding activity; and molecular adaptor activity. Involved in several processes, including hematopoietic stem cell differentiation; positive regulation of DNA-templated transcription; and regulation of stem cell division. Acts upstream of or within negative regulation of canonical Wnt signaling pathway and positive regulation of Wnt signaling pathway, planar cell polarity pathway. Located in cytosol and nucleoplasm. Part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Apr 2025]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs751061523 | 9:20,354,861 | C/T | — | uncertain significance |
| rs779719219 | 9:20,360,766 | G/C | — | uncertain significance |
| rs771493754 | 9:20,360,783 | T/C | — | uncertain significance |
| rs920527847 | 9:20,360,784 | G/A | — | uncertain significance |
| rs1264092813 | 9:20,363,484 | G/C | — | uncertain significance |
| rs2488845135 | 9:20,363,490 | C/T | — | uncertain significance |
| rs760512393 | 9:20,363,504 | G/A | — | uncertain significance |
| rs980808649 | 9:20,363,573 | T/C | — | uncertain significance |
| rs772983915 | 9:20,363,591 | G/T | — | uncertain significance |
| rs1452517556 | 9:20,363,594 | C/T | — | uncertain significance |
| rs4007655 | 9:20,366,559 | A/G | intron variant | — |
| rs73430715 | 9:20,368,548 | C/T | intron variant | — |
| rs150714333 | 9:20,391,586 | A/G | intron variant | — |
| rs754128335 | 9:20,413,759 | T/C | — | uncertain significance |
| rs771693368 | 9:20,413,786 | G/A | — | uncertain significance |
| rs201817828 | 9:20,413,792 | G/A | — | uncertain significance |
| rs139812555 | 9:20,413,811 | A/G | — | uncertain significance |
| rs150329627 | 9:20,413,910 | T/C | — | uncertain significance |
| rs142178265 | 9:20,413,963 | G/A | — | uncertain significance |
| rs565996384 | 9:20,413,990 | G/A | — | uncertain significance |
| rs201978462 | 9:20,414,106 | T/G | — | uncertain significance |
| rs1822802961 | 9:20,414,149 | G/A | — | uncertain significance |
| rs941465733 | 9:20,414,161 | G/T | — | uncertain significance |
| rs1822811130 | 9:20,414,304 | G/A | — | likely benign |
| rs781125840 | 9:20,414,305 | C/G | — | uncertain significance |
| rs746105857 | 9:20,414,308 | C/T | — | uncertain significance |
| rs772542081 | 9:20,414,355 | G/A | — | likely benign |
| rs1761445 | 9:20,414,376 | A/G | — | benign |
| rs992155754 | 9:20,414,382 | G/A | — | likely benign |
| rs1391295058 | 9:20,414,388 | G/A | — | likely benign |
| rs12350051 | 9:20,475,176 | T/C | intron variant | — |
| rs17685306 | 9:20,551,460 | C/G | regulatory region variant | — |
| rs576124561 | 9:20,576,825 | C/A | — | — |
| rs2188230 | 9:20,608,912 | T/G | — | — |
| rs2780834 | 9:20,620,292 | A/G | intron variant | — |
| rs2073855 | 9:20,620,575 | G/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.