SART3

spliceosome associated factor 3, U4/U6 recycling protein

Summary

The protein encoded by this gene is an RNA-binding nuclear protein that is a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. This gene product is found to be an important cellular factor for HIV-1 gene expression and viral replication. It also associates transiently with U6 and U4/U6 snRNPs during the recycling phase of the spliceosome cycle. This encoded protein is thought to be involved in the regulation of mRNA splicing. [provided by RefSeq, Jul 2008]

Known Variants54 total

rsidPosition (GRCh37)AllelesClassClinVar
rs37732932312:108,917,302C/T—likely benign
rs37065061612:108,917,308C/G—uncertain significance
rs3470918112:108,917,330G/A—benign
rs15037932712:108,917,340T/C—uncertain significance
rs76843936512:108,917,409C/T—uncertain significance
rs187226728712:108,918,100A/G—uncertain significance
rs118795517012:108,918,258T/C—uncertain significance
rs136042815212:108,919,250C/T—likely pathogenic
rs76677696612:108,919,253T/C—uncertain significance
rs254073301912:108,919,322C/T—uncertain significance
rs54186741512:108,919,381G/C—uncertain significance
rs77965929912:108,919,947G/A—likely pathogenic
rs75295780812:108,919,964T/C—uncertain significance
rs15070518312:108,920,034T/C—uncertain significance
rs254073402212:108,920,093G/A—likely pathogenic
rs11632637312:108,920,173G/A—benign
rs37013341512:108,920,210G/A—uncertain significance
rs77184950612:108,920,268C/G—likely benign
rs254073441612:108,920,328G/T—uncertain significance
rs11820395412:108,924,063C/Tmissense variantuncertain significance
rs187271082812:108,926,028C/T—uncertain significance
rs14836795012:108,926,106G/A—uncertain significance
rs391956712:108,927,183A/Gintron variant—
rs254074271212:108,929,136T/C—likely pathogenic
rs137792526412:108,929,214G/A—likely pathogenic
rs75227495712:108,930,334C/T—uncertain significance
rs254074404912:108,930,338C/G—uncertain significance
rs57246494112:108,930,342T/C—likely benign
rs75833451912:108,930,508A/G—uncertain significance
rs19975851412:108,930,520G/A—uncertain significance
rs7788726112:108,930,566C/T—benign
rs254074551212:108,931,296T/A—uncertain significance
rs75941018512:108,931,363C/T—uncertain significance
rs3460166112:108,931,932G/A—benign
rs75184467312:108,932,727G/A—uncertain significance
rs14677426912:108,936,879T/C—uncertain significance
rs75905828812:108,938,227G/A—likely pathogenic
rs37423420612:108,938,929C/A—uncertain significance
rs254075334012:108,938,998A/G—likely pathogenic
rs74632020612:108,939,000G/A—uncertain significance
rs74735416512:108,939,013C/T—likely pathogenic
rs77624964812:108,939,019C/T—uncertain significance
rs77262581012:108,939,025G/A—uncertain significance
rs20042251112:108,939,028C/T—uncertain significance
rs19206817812:108,941,653G/A—benign
rs75815467212:108,942,980T/C—uncertain significance
rs205242412:108,944,229T/Aintron variant—
rs1111398912:108,945,610A/Gregulatory region variant—
rs78161165112:108,954,659T/G—uncertain significance
rs19976940912:108,954,757C/A—uncertain significance
rs76939913812:108,954,812G/A—uncertain significance
rs159278454912:108,954,836G/C—uncertain significance
rs75945453212:108,954,837C/T—uncertain significance
rs14418414612:108,954,920G/A—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.