SYMPK
symplekin scaffold protein
Summary
This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. [provided by RefSeq, Jul 2008]
Known Variants60 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs764275989 | 19:46,318,898 | G/A | — | uncertain significance |
| rs766395793 | 19:46,318,906 | G/C | — | uncertain significance |
| rs541272706 | 19:46,318,946 | C/G | — | uncertain significance |
| rs116247729 | 19:46,319,133 | A/G | — | likely benign |
| rs1446171677 | 19:46,319,175 | C/A | — | uncertain significance |
| rs769564643 | 19:46,319,218 | T/C | — | uncertain significance |
| rs143595032 | 19:46,319,245 | G/A | — | uncertain significance |
| rs148068166 | 19:46,319,246 | G/A | — | uncertain significance |
| rs374029281 | 19:46,319,276 | G/T | — | uncertain significance |
| rs2513734633 | 19:46,319,287 | G/A | — | uncertain significance |
| rs1471567464 | 19:46,319,308 | C/A | — | uncertain significance |
| rs745477965 | 19:46,319,404 | G/A | — | uncertain significance |
| rs751719892 | 19:46,319,439 | A/C | — | uncertain significance |
| rs558427217 | 19:46,319,751 | G/A | — | uncertain significance |
| rs74821481 | 19:46,320,041 | G/C | — | — |
| rs199742453 | 19:46,320,082 | G/A | — | uncertain significance |
| rs1358025119 | 19:46,321,234 | G/A | — | uncertain significance |
| rs56848936 | 19:46,321,507 | A/G | upstream gene variant | — |
| rs2513747413 | 19:46,326,074 | T/C | — | uncertain significance |
| rs2513748613 | 19:46,326,655 | A/G | — | uncertain significance |
| rs2513752743 | 19:46,328,517 | T/A | — | uncertain significance |
| rs777424373 | 19:46,329,516 | G/A | — | uncertain significance |
| rs761981429 | 19:46,329,601 | G/A | — | uncertain significance |
| rs776588460 | 19:46,330,850 | C/T | — | uncertain significance |
| rs1229986222 | 19:46,331,132 | C/T | — | uncertain significance |
| rs761256432 | 19:46,332,312 | C/A | — | uncertain significance |
| rs770342351 | 19:46,332,316 | C/T | — | uncertain significance |
| rs759892277 | 19:46,332,325 | A/G | — | uncertain significance |
| rs141706016 | 19:46,332,369 | T/C | — | benign |
| rs768312384 | 19:46,332,370 | G/A | — | uncertain significance |
| rs1464249132 | 19:46,332,396 | G/T | — | uncertain significance |
| rs8102876 | 19:46,332,842 | C/T | upstream gene variant | — |
| rs980212803 | 19:46,333,347 | C/T | — | uncertain significance |
| rs1048475241 | 19:46,333,416 | C/T | — | uncertain significance |
| rs35532874 | 19:46,333,420 | G/A | — | likely benign |
| rs2513764216 | 19:46,334,681 | T/C | — | uncertain significance |
| rs761634531 | 19:46,334,686 | C/A | — | uncertain significance |
| rs186314633 | 19:46,334,738 | G/A | — | uncertain significance |
| rs1485074997 | 19:46,338,350 | G/C | — | uncertain significance |
| rs146050594 | 19:46,338,389 | T/G | — | uncertain significance |
| rs771698467 | 19:46,338,403 | C/T | — | likely benign |
| rs557692962 | 19:46,341,790 | C/T | — | likely benign |
| rs2513772690 | 19:46,341,831 | G/C | — | uncertain significance |
| rs550681019 | 19:46,345,555 | T/C | — | uncertain significance |
| rs750978658 | 19:46,345,585 | C/A | — | uncertain significance |
| rs1003627454 | 19:46,347,414 | T/G | — | uncertain significance |
| rs144772956 | 19:46,347,447 | C/G | — | uncertain significance |
| rs751681898 | 19:46,351,054 | A/G | — | uncertain significance |
| rs181097745 | 19:46,351,069 | C/A | — | uncertain significance |
| rs1326891344 | 19:46,351,100 | G/T | — | uncertain significance |
| rs1048724232 | 19:46,351,114 | A/G | — | uncertain significance |
| rs2513786670 | 19:46,352,018 | A/G | — | uncertain significance |
| rs7249022 | 19:46,354,558 | G/A | intron variant | — |
| rs7252363 | 19:46,354,793 | G/A | intron variant | — |
| rs770918794 | 19:46,355,589 | C/T | — | uncertain significance |
| rs201588333 | 19:46,357,456 | A/C | — | uncertain significance |
| rs371180833 | 19:46,357,680 | G/A | — | uncertain significance |
| rs2513794478 | 19:46,357,701 | A/T | — | uncertain significance |
| rs76793172 | 19:46,359,794 | C/G | — | — |
| rs113577760 | 19:46,365,177 | T/C | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.