SOX30
SRY-box transcription factor 30
Summary
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein acts as a transcriptional regulator when present in a complex with other proteins. It can activate p53 transcription to promote tumor cell apoptosis in lung cancer. The protein may be involved in the differentiation of developing male germ cells. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Apr 2015]
Known Variants52 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2479978148 | 5:157,053,376 | T/A | — | uncertain significance |
| rs1561576668 | 5:157,053,462 | A/C | — | uncertain significance |
| rs748537714 | 5:157,053,506 | G/T | — | uncertain significance |
| rs1387541406 | 5:157,053,536 | T/A | — | uncertain significance |
| rs779936102 | 5:157,053,580 | C/T | — | uncertain significance |
| rs771523158 | 5:157,053,647 | T/C | — | uncertain significance |
| rs368081998 | 5:157,053,675 | C/T | — | uncertain significance |
| rs1365762031 | 5:157,053,713 | G/A | — | uncertain significance |
| rs11954649 | 5:157,055,491 | C/G | intron variant | — |
| rs200118199 | 5:157,065,293 | T/C | — | uncertain significance |
| rs201680419 | 5:157,065,335 | G/T | — | uncertain significance |
| rs138390114 | 5:157,065,428 | G/C | — | uncertain significance |
| rs73306857 | 5:157,065,430 | T/G | — | benign |
| rs75818287 | 5:157,065,439 | G/A | — | benign |
| rs2480005848 | 5:157,065,473 | T/C | — | uncertain significance |
| rs142979427 | 5:157,065,499 | A/G | — | benign |
| rs377581367 | 5:157,065,568 | G/C | — | likely pathogenic |
| rs2480006212 | 5:157,065,625 | T/C | — | uncertain significance |
| rs1348450375 | 5:157,065,655 | C/G | — | uncertain significance |
| rs778628194 | 5:157,065,660 | C/G | — | uncertain significance |
| rs769700338 | 5:157,065,700 | G/A | — | uncertain significance |
| rs779907360 | 5:157,073,701 | G/A | — | uncertain significance |
| rs2480021799 | 5:157,073,773 | A/G | — | uncertain significance |
| rs746101906 | 5:157,073,775 | A/T | — | uncertain significance |
| rs12518542 | 5:157,075,828 | T/C | — | likely benign |
| rs372385610 | 5:157,078,146 | G/A | — | uncertain significance |
| rs745475350 | 5:157,078,182 | A/C | — | uncertain significance |
| rs375931805 | 5:157,078,188 | G/A | — | uncertain significance |
| rs369810871 | 5:157,078,232 | T/G | — | uncertain significance |
| rs373290874 | 5:157,078,257 | C/T | — | uncertain significance |
| rs200619263 | 5:157,078,290 | G/C | — | uncertain significance |
| rs1759327116 | 5:157,078,311 | C/T | — | uncertain significance |
| rs1443091851 | 5:157,078,380 | A/G | — | uncertain significance |
| rs1183238755 | 5:157,078,383 | A/G | — | uncertain significance |
| rs1759336863 | 5:157,078,473 | G/A | — | uncertain significance |
| rs768549062 | 5:157,078,555 | A/G | — | uncertain significance |
| rs2480033529 | 5:157,078,599 | G/A | — | uncertain significance |
| rs199892618 | 5:157,078,695 | A/C | — | likely benign |
| rs182220520 | 5:157,078,720 | G/A | — | uncertain significance |
| rs61732988 | 5:157,078,748 | C/G | — | benign |
| rs751506020 | 5:157,078,813 | C/T | — | uncertain significance |
| rs1406732683 | 5:157,078,816 | C/G | — | uncertain significance |
| rs1007274760 | 5:157,078,822 | C/G | — | uncertain significance |
| rs757481677 | 5:157,078,831 | C/T | — | uncertain significance |
| rs1759354695 | 5:157,078,837 | G/A | — | uncertain significance |
| rs74332701 | 5:157,078,889 | C/T | — | benign |
| rs757302973 | 5:157,078,890 | G/A | — | uncertain significance |
| rs1413338228 | 5:157,078,908 | G/C | — | uncertain significance |
| rs1464939869 | 5:157,078,953 | G/T | — | uncertain significance |
| rs1337118361 | 5:157,078,954 | C/T | — | uncertain significance |
| rs765312303 | 5:157,079,017 | C/G | — | uncertain significance |
| rs539566843 | 5:157,079,049 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.