PLAG1
PLAG1 zinc finger
Summary
Pleomorphic adenoma gene 1 encodes a zinc finger protein with 2 putative nuclear localization signals. PLAG1, which is developmentally regulated, has been shown to be consistently rearranged in pleomorphic adenomas of the salivary glands. PLAG1 is activated by the reciprocal chromosomal translocations involving 8q12 in a subset of salivary gland pleomorphic adenomas. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1259164201 | 8:57,078,844 | G/C | — | uncertain significance |
| rs2487103351 | 8:57,078,848 | A/C | — | uncertain significance |
| rs559524753 | 8:57,078,897 | T/C | — | uncertain significance |
| rs144552372 | 8:57,078,932 | G/C | — | uncertain significance |
| rs35883156 | 8:57,078,933 | G/T | — | benign |
| rs75108631 | 8:57,078,948 | C/G | — | likely benign |
| rs765825114 | 8:57,078,959 | G/A | — | uncertain significance |
| rs752928301 | 8:57,079,044 | A/C | — | uncertain significance |
| rs141407863 | 8:57,079,077 | G/A | — | uncertain significance |
| rs776708502 | 8:57,079,092 | T/C | — | uncertain significance |
| rs2487104570 | 8:57,079,150 | A/C | — | likely benign |
| rs1360819603 | 8:57,079,244 | C/T | — | uncertain significance |
| rs771228481 | 8:57,079,403 | G/A | — | uncertain significance |
| rs538848890 | 8:57,079,411 | C/A | — | uncertain significance |
| rs2129224496 | 8:57,079,616 | C/T | — | uncertain significance |
| rs748840607 | 8:57,079,703 | C/T | — | uncertain significance |
| rs780434899 | 8:57,079,716 | G/A | — | likely pathogenic |
| rs2487107294 | 8:57,079,760 | T/A | — | uncertain significance |
| rs574718083 | 8:57,079,836 | G/T | — | uncertain significance |
| rs771690216 | 8:57,079,935 | C/T | — | uncertain significance |
| rs200873507 | 8:57,079,946 | G/A | — | uncertain significance |
| rs755390631 | 8:57,079,962 | C/T | — | uncertain significance |
| rs77315395 | 8:57,080,027 | T/A | — | likely benign |
| rs149809434 | 8:57,080,755 | C/T | — | uncertain significance |
| rs1811414889 | 8:57,080,761 | C/T | — | uncertain significance |
| rs144724863 | 8:57,080,762 | G/A | — | uncertain significance |
| rs10958476 | 8:57,095,808 | T/C | intron variant | — |
| rs7833986 | 8:57,100,149 | G/A | intron variant | — |
| rs13273123 | 8:57,100,791 | A/G | intron variant | — |
| rs6474051 | 8:57,125,270 | T/C | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.