TBL1Y
transducin beta like 1 Y-linked
Summary
The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene is highly similar to TBL1X gene in nucleotide sequence and protein sequence, but the TBL1X gene is located on chromosome X and this gene is on chromosome Y. This gene has three alternatively spliced transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
Known Variants61 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs181335666 | Y:6,788,191 | G/A | — | — |
| rs111982185 | Y:6,802,987 | C/T | — | — |
| rs768983 | Y:6,818,291 | C/T | — | — |
| rs185975114 | Y:6,843,151 | T/G | — | — |
| rs189205028 | Y:6,845,936 | T/C | — | — |
| rs182352067 | Y:6,845,955 | G/A | — | — |
| rs187409543 | Y:6,846,482 | G/A | — | — |
| rs190548065 | Y:6,846,615 | C/T | — | — |
| rs183144993 | Y:6,847,842 | G/A | — | — |
| rs186143316 | Y:6,848,153 | G/T | — | — |
| rs111526531 | Y:6,848,560 | T/C | — | — |
| rs190126356 | Y:6,851,720 | G/A | — | — |
| rs113726889 | Y:6,853,286 | C/A | — | — |
| rs112383353 | Y:6,858,878 | G/A | — | — |
| rs187723852 | Y:6,859,558 | C/G | — | — |
| rs192498449 | Y:6,859,691 | T/C | — | — |
| rs373219368 | Y:6,860,508 | A/T | — | — |
| rs9786374 | Y:6,861,075 | G/A | — | — |
| rs184049485 | Y:6,863,229 | A/T | — | — |
| rs111842458 | Y:6,867,783 | C/G | — | — |
| rs1865680 | Y:6,868,118 | A/G | — | — |
| rs192028702 | Y:6,868,881 | C/T | — | — |
| rs184223476 | Y:6,870,606 | G/A | — | — |
| rs192830874 | Y:6,876,484 | G/T | — | — |
| rs184932575 | Y:6,877,314 | G/A | — | — |
| rs189443481 | Y:6,877,891 | A/G | — | — |
| rs180981568 | Y:6,879,761 | A/T | — | — |
| rs184839215 | Y:6,885,631 | G/A | — | — |
| rs112261955 | Y:6,887,162 | C/T | — | — |
| rs181981298 | Y:6,887,414 | A/G | — | — |
| rs185900322 | Y:6,890,869 | A/C | — | — |
| rs34555473 | Y:6,893,093 | A/C | 5 prime UTR variant | — |
| rs181305401 | Y:6,894,625 | G/T | — | — |
| rs186535705 | Y:6,894,819 | G/A | — | — |
| rs190958866 | Y:6,895,092 | A/G | — | — |
| rs182712174 | Y:6,895,470 | A/G | — | — |
| rs186711202 | Y:6,899,793 | A/T | — | — |
| rs190787816 | Y:6,905,202 | C/T | — | — |
| rs11799224 | Y:6,905,504 | T/G | — | — |
| rs17316227 | Y:6,906,074 | A/G | — | — |
| rs183249103 | Y:6,907,838 | G/A | — | — |
| rs187335757 | Y:6,908,261 | G/A | — | — |
| rs9786566 | Y:6,912,992 | G/T | — | — |
| rs9786225 | Y:6,931,856 | C/G | — | — |
| rs199659121 | Y:6,931,939 | A/T | — | uncertain significance |
| rs200332530 | Y:6,931,957 | G/T | missense variant | likely benign |
| rs377026718 | Y:6,932,146 | G/A | — | likely benign |
| rs77259694 | Y:6,932,191 | G/C | — | likely benign |
| rs35573420 | Y:6,932,199 | G/A | intron variant | — |
| rs184804870 | Y:6,932,824 | G/T | — | — |
| rs188114609 | Y:6,932,829 | G/C | — | — |
| rs192939307 | Y:6,932,831 | A/G | — | — |
| rs779411676 | Y:6,938,269 | G/A | — | likely benign |
| rs36044179 | Y:6,938,665 | A/G | — | — |
| rs9306845 | Y:6,941,218 | A/G | — | — |
| rs373210009 | Y:6,951,622 | T/C | — | — |
| rs13303711 | Y:6,952,023 | C/T | — | — |
| rs35623864 | Y:6,954,470 | C/A | — | — |
| rs113325051 | Y:6,955,868 | A/C | — | — |
| rs34137545 | Y:6,958,165 | C/T | synonymous variant | — |
| rs16981311 | Y:6,965,215 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.