KLF8
KLF transcription factor 8
Summary
This gene encodes a protein which is a member of the Sp/KLF family of transcription factors. Members of this family contain a C-terminal DNA-binding domain with three Kruppel-like zinc fingers. The encoded protein is thought to play an important role in the regulation of epithelial to mesenchymal transition, a process which occurs normally during development but also during metastasis. A pseudogene has been identified on chromosome 16. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
Known Variants33 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10855058 | X:55,936,822 | A/T | — | — |
| rs895116840 | X:56,101,073 | G/A | — | likely benign |
| rs5914559 | X:56,139,739 | T/C | — | — |
| rs143212632 | X:56,197,395 | G/A | intergenic variant | — |
| rs5914589 | X:56,216,258 | T/C | — | — |
| rs2519623660 | X:56,259,760 | C/T | — | likely benign |
| rs2375630 | X:56,264,984 | C/T | — | — |
| rs73206583 | X:56,287,726 | G/T | — | — |
| rs1033565 | X:56,291,516 | T/G | intron variant | — |
| rs780360757 | X:56,291,697 | C/A | — | uncertain significance |
| rs139081150 | X:56,291,713 | C/T | — | uncertain significance |
| rs143969730 | X:56,291,756 | G/T | — | benign |
| rs2066956144 | X:56,291,817 | G/A | — | uncertain significance |
| rs2519738224 | X:56,291,818 | C/A | — | uncertain significance |
| rs1451874481 | X:56,291,824 | T/C | — | uncertain significance |
| rs146429909 | X:56,291,853 | A/G | — | benign |
| rs753632321 | X:56,291,859 | C/A | — | uncertain significance |
| rs1397842630 | X:56,291,916 | A/C | — | uncertain significance |
| rs773889151 | X:56,291,942 | T/G | — | likely benign |
| rs913427803 | X:56,291,952 | C/T | — | uncertain significance |
| rs1602450029 | X:56,291,963 | C/T | — | likely benign |
| rs1555934005 | X:56,291,993 | G/A | — | likely benign |
| rs140327143 | X:56,292,093 | G/A | — | likely benign |
| rs1484964264 | X:56,292,162 | A/C | — | uncertain significance |
| rs758595312 | X:56,292,180 | A/G | — | not provided |
| rs189635205 | X:56,292,182 | G/A | — | benign |
| rs1402729226 | X:56,295,821 | C/T | — | likely benign |
| rs1324948642 | X:56,295,844 | A/G | — | uncertain significance |
| rs766866162 | X:56,295,881 | T/A | — | uncertain significance |
| rs146271748 | X:56,296,651 | G/A | — | likely benign |
| rs766842755 | X:56,310,781 | T/G | — | uncertain significance |
| rs1016774145 | X:56,310,868 | C/T | — | uncertain significance |
| rs749126061 | X:56,310,930 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.