LEF1
lymphoid enhancer binding factor 1
Summary
This gene encodes a transcription factor belonging to a family of proteins that share homology with the high mobility group protein-1. The protein encoded by this gene can bind to a functionally important site in the T-cell receptor-alpha enhancer, thereby conferring maximal enhancer activity. This transcription factor is involved in the Wnt signaling pathway, and it may function in hair cell differentiation and follicle morphogenesis. Mutations in this gene have been found in somatic sebaceous tumors. This gene has also been linked to other cancers, including androgen-independent prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4365796 | 4:108,969,883 | G/A | 3 prime UTR variant | — |
| rs1201511307 | 4:108,985,515 | T/C | — | uncertain significance |
| rs779954245 | 4:108,999,432 | C/T | — | uncertain significance |
| rs2126285505 | 4:108,999,456 | T/C | — | uncertain significance |
| rs1739051852 | 4:108,999,471 | C/T | — | uncertain significance |
| rs1299335713 | 4:108,999,497 | C/T | — | uncertain significance |
| rs372432542 | 4:109,000,634 | G/A | — | likely benign |
| rs1374631633 | 4:109,000,667 | C/T | — | uncertain significance |
| rs2477546993 | 4:109,000,727 | T/C | — | uncertain significance |
| rs2477547203 | 4:109,000,747 | C/T | — | uncertain significance |
| rs146861754 | 4:109,000,748 | C/T | — | uncertain significance |
| rs3819199 | 4:109,002,559 | C/G | — | — |
| rs572389569 | 4:109,004,548 | G/A | — | uncertain significance |
| rs1461963031 | 4:109,004,553 | C/A | — | uncertain significance |
| rs1442283587 | 4:109,004,566 | G/C | — | uncertain significance |
| rs369151256 | 4:109,004,608 | A/C | — | benign |
| rs775583955 | 4:109,010,298 | T/A | — | uncertain significance |
| rs898518 | 4:109,016,824 | C/G | — | — |
| rs4458527 | 4:109,018,062 | G/T | — | — |
| rs7665304 | 4:109,025,379 | A/C | intron variant | — |
| rs114748567 | 4:109,028,925 | C/T | regulatory region variant | — |
| rs956237 | 4:109,046,960 | G/A | intron variant | — |
| rs10025623 | 4:109,049,374 | G/C | — | — |
| rs9992763 | 4:109,058,718 | G/A | — | — |
| rs17038648 | 4:109,061,523 | C/T | intron variant | — |
| rs58107865 | 4:109,061,618 | G/C | intron variant | — |
| rs1745198563 | 4:109,084,764 | T/C | — | uncertain significance |
| rs754959962 | 4:109,084,795 | T/G | — | uncertain significance |
| rs61751709 | 4:109,084,811 | C/T | — | benign |
| rs1033894964 | 4:109,084,833 | T/C | — | uncertain significance |
| rs61752607 | 4:109,086,280 | C/T | — | likely benign |
| rs267607215 | 4:109,088,743 | A/G | missense variant | — |
| rs267607214 | 4:109,088,791 | C/G | missense variant | — |
| rs779512732 | 4:109,088,833 | C/G | — | uncertain significance |
| rs201163073 | 4:109,088,851 | G/A | — | uncertain significance |
| rs2478216909 | 4:109,088,886 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.