ACTL6A
actin like 6A
Summary
This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a 53 kDa subunit protein of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. Together with beta-actin, it is required for maximal ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. Three transcript variants that encode two different protein isoforms have been described. [provided by RefSeq, Jul 2008]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs780327011 | 3:179,287,653 | G/A | — | uncertain significance |
| rs1283031730 | 3:179,287,891 | A/G | — | uncertain significance |
| rs142727005 | 3:179,287,945 | G/A | — | uncertain significance |
| rs376555270 | 3:179,288,027 | T/C | — | uncertain significance |
| rs201010303 | 3:179,291,193 | A/G | — | conflicting classifications of pathogenicity |
| rs2108360189 | 3:179,291,256 | C/T | — | uncertain significance |
| rs991355275 | 3:179,292,202 | T/G | — | uncertain significance |
| rs111350774 | 3:179,292,235 | C/T | — | likely benign |
| rs368778776 | 3:179,294,089 | C/T | — | likely benign |
| rs754405685 | 3:179,294,404 | A/G | — | uncertain significance |
| rs748595483 | 3:179,294,440 | A/G | — | uncertain significance |
| rs2474127978 | 3:179,294,480 | T/C | — | uncertain significance |
| rs149451650 | 3:179,294,488 | G/A | — | likely benign |
| rs2474128006 | 3:179,294,491 | C/T | — | uncertain significance |
| rs1718176374 | 3:179,294,502 | G/A | — | uncertain significance |
| rs34630517 | 3:179,294,509 | T/A | — | likely benign |
| rs1035631360 | 3:179,294,612 | G/C | — | uncertain significance |
| rs773240025 | 3:179,294,684 | C/T | — | uncertain significance |
| rs1469906613 | 3:179,294,691 | A/G | — | uncertain significance |
| rs2474134961 | 3:179,298,458 | C/T | — | uncertain significance |
| rs2474135939 | 3:179,298,770 | G/A | — | uncertain significance |
| rs34740204 | 3:179,298,958 | A/G | — | likely benign |
| rs146107398 | 3:179,298,975 | A/G | — | likely benign |
| rs1132429 | 3:179,298,999 | T/C | — | benign |
| rs779920530 | 3:179,301,150 | G/A | — | uncertain significance |
| rs868064163 | 3:179,304,340 | C/T | — | conflicting classifications of pathogenicity |
| rs73883564 | 3:179,304,349 | T/G | — | benign |
| rs2108373072 | 3:179,304,355 | G/C | — | uncertain significance |
| rs199792283 | 3:179,304,376 | C/T | — | uncertain significance |
| rs772430235 | 3:179,304,385 | A/G | — | uncertain significance |
| rs1553778576 | 3:179,304,421 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.