RB1
RB transcriptional corepressor 1
Summary
The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]
Known Variants2,280 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs576931877 | 13:48,877,814 | G/A | — | conflicting classifications of pathogenicity |
| rs886631251 | 13:48,877,815 | C/G | — | benign |
| rs1005041971 | 13:48,877,821 | C/G | — | uncertain significance |
| rs1176770053 | 13:48,877,826 | G/C | — | uncertain significance |
| rs1488949117 | 13:48,877,827 | C/A | — | uncertain significance |
| rs1952048465 | 13:48,877,840 | A/G | — | uncertain significance |
| rs1408378438 | 13:48,877,847 | G/A | — | uncertain significance |
| rs2542091799 | 13:48,877,848 | G/T | — | uncertain significance |
| rs2138025971 | 13:48,877,850 | C/T | — | uncertain significance |
| rs387906521 | 13:48,877,851 | G/A | — | pathogenic |
| rs2542091863 | 13:48,877,852 | G/C | — | likely pathogenic |
| rs387906520 | 13:48,877,860 | G/T | — | pathogenic |
| rs540991389 | 13:48,877,876 | A/T | — | uncertain significance |
| rs2542091959 | 13:48,877,877 | C/T | — | uncertain significance |
| rs768638029 | 13:48,877,878 | G/A | — | uncertain significance |
| rs2542092003 | 13:48,877,881 | G/A | — | uncertain significance |
| rs945176525 | 13:48,877,884 | C/T | — | uncertain significance |
| rs1034797836 | 13:48,877,889 | T/C | — | uncertain significance |
| rs960064111 | 13:48,877,891 | G/A | — | uncertain significance |
| rs1433895904 | 13:48,877,892 | C/G | — | uncertain significance |
| rs886050265 | 13:48,877,893 | C/A | — | uncertain significance |
| rs1952049136 | 13:48,877,894 | G/C | — | uncertain significance |
| rs886050266 | 13:48,877,896 | G/T | — | uncertain significance |
| rs1043802132 | 13:48,877,897 | C/T | — | uncertain significance |
| rs1014776340 | 13:48,877,900 | G/T | — | conflicting classifications of pathogenicity |
| rs1952049346 | 13:48,877,902 | G/A | — | uncertain significance |
| rs760717060 | 13:48,877,915 | G/T | — | benign |
| rs977872909 | 13:48,877,921 | C/G | — | uncertain significance |
| rs938037004 | 13:48,877,923 | C/T | — | uncertain significance |
| rs1952049584 | 13:48,877,924 | A/G | — | uncertain significance |
| rs1345202778 | 13:48,877,926 | G/A | — | uncertain significance |
| rs2542092269 | 13:48,877,928 | G/A | — | uncertain significance |
| rs1952049790 | 13:48,877,949 | A/T | — | uncertain significance |
| rs925207403 | 13:48,877,951 | G/A | — | uncertain significance |
| rs1014258510 | 13:48,877,964 | G/C | — | uncertain significance |
| rs886050267 | 13:48,877,968 | G/A | — | uncertain significance |
| rs774126881 | 13:48,877,969 | G/A | — | benign |
| rs974682571 | 13:48,877,970 | G/A | — | uncertain significance |
| rs1952050102 | 13:48,877,973 | G/T | — | uncertain significance |
| rs1593411778 | 13:48,877,977 | C/T | — | uncertain significance |
| rs753117180 | 13:48,877,980 | G/C | — | conflicting classifications of pathogenicity |
| rs1593411786 | 13:48,877,984 | T/G | — | uncertain significance |
| rs574811824 | 13:48,878,001 | C/T | — | benign |
| rs542151787 | 13:48,878,012 | C/A | — | uncertain significance |
| rs2138026808 | 13:48,878,020 | C/G | — | uncertain significance |
| rs780264811 | 13:48,878,034 | C/G | — | uncertain significance |
| rs1376823332 | 13:48,878,038 | G/A | — | uncertain significance |
| rs2138026917 | 13:48,878,045 | C/T | — | uncertain significance |
| rs1466986201 | 13:48,878,047 | T/G | — | uncertain significance |
| rs754354560 | 13:48,878,048 | C/T | — | conflicting classifications of pathogenicity |
| rs2138026940 | 13:48,878,049 | A/T | — | uncertain significance |
| rs1328198608 | 13:48,878,052 | C/A | — | uncertain significance |
| rs1593411898 | 13:48,878,054 | G/T | — | likely benign |
| rs2138026983 | 13:48,878,055 | C/G | — | uncertain significance |
| rs2138026992 | 13:48,878,056 | C/T | — | uncertain significance |
| rs2138026999 | 13:48,878,057 | C/A | — | likely benign |
| rs1371181708 | 13:48,878,059 | A/G | — | uncertain significance |
| rs898303682 | 13:48,878,061 | A/C | — | uncertain significance |
| rs1265159988 | 13:48,878,062 | C/T | — | uncertain significance |
| rs1593411934 | 13:48,878,063 | C/A | — | likely benign |
| rs886043138 | 13:48,878,064 | C/T | — | conflicting classifications of pathogenicity |
| rs755482658 | 13:48,878,065 | C/A | — | uncertain significance |
| rs1017683562 | 13:48,878,066 | C/T | — | likely benign |
| rs1952051704 | 13:48,878,067 | C/A | — | likely benign |
| rs564059250 | 13:48,878,068 | G/A | — | uncertain significance |
| rs2138027098 | 13:48,878,069 | A/G | — | likely benign |
| rs2542093267 | 13:48,878,070 | A/G | — | uncertain significance |
| rs2138027103 | 13:48,878,072 | A/C | — | uncertain significance |
| rs2138027109 | 13:48,878,073 | A/C | — | uncertain significance |
| rs1952051803 | 13:48,878,074 | C/T | — | uncertain significance |
| rs1593411967 | 13:48,878,076 | G/A | — | uncertain significance |
| rs530961288 | 13:48,878,078 | C/T | — | likely benign |
| rs587778852 | 13:48,878,079 | G/T | — | uncertain significance |
| rs899323337 | 13:48,878,080 | C/G | — | uncertain significance |
| rs1593411999 | 13:48,878,081 | C/T | — | likely benign |
| rs1566174063 | 13:48,878,082 | A/G | — | conflicting classifications of pathogenicity |
| rs779180897 | 13:48,878,084 | C/T | — | likely benign |
| rs2138027251 | 13:48,878,086 | C/G | — | uncertain significance |
| rs1952052419 | 13:48,878,087 | C/T | — | likely benign |
| rs148980395 | 13:48,878,090 | C/T | — | likely benign |
| rs587778638 | 13:48,878,091 | G/C | — | uncertain significance |
| rs564137727 | 13:48,878,092 | C/G | — | uncertain significance |
| rs1593412047 | 13:48,878,093 | T/G | — | likely benign |
| rs2138027367 | 13:48,878,096 | C/T | — | likely benign |
| rs1566174092 | 13:48,878,097 | G/A | — | uncertain significance |
| rs1593412070 | 13:48,878,098 | C/T | — | uncertain significance |
| rs1593412073 | 13:48,878,099 | C/G | — | likely benign |
| rs528218090 | 13:48,878,100 | G/A | — | uncertain significance |
| rs2138027419 | 13:48,878,103 | G/T | — | pathogenic |
| rs2138027431 | 13:48,878,104 | A/T | — | uncertain significance |
| rs1046808421 | 13:48,878,105 | A/G | — | likely benign |
| rs1297224382 | 13:48,878,106 | C/T | — | uncertain significance |
| rs587778637 | 13:48,878,107 | C/T | — | conflicting classifications of pathogenicity |
| rs777340111 | 13:48,878,108 | C/G | — | likely benign |
| rs1444353743 | 13:48,878,110 | C/T | — | conflicting classifications of pathogenicity |
| rs1313614748 | 13:48,878,111 | G/A | — | likely benign |
| rs1014225642 | 13:48,878,114 | A/G | — | likely benign |
| rs1349657979 | 13:48,878,115 | C/T | — | uncertain significance |
| rs1952053594 | 13:48,878,116 | C/A | — | uncertain significance |
| rs746662122 | 13:48,878,117 | G/A | — | likely benign |
Showing 100 of 2,280 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.