YAP1
Yes1 associated transcriptional regulator
Summary
This gene encodes a downstream nuclear effector of the Hippo signaling pathway which is involved in development, growth, repair, and homeostasis. This gene is known to play a role in the development and progression of multiple cancers as a transcriptional regulator of this signaling pathway and may function as a potential target for cancer treatment. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2013]
Known Variants77 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7931899 | 11:101,979,372 | C/T | coding sequence variant | — |
| rs1820453 | 11:101,980,335 | C/T | coding sequence variant | — |
| rs7106388 | 11:101,981,277 | T/C | — | benign |
| rs2135083651 | 11:101,981,580 | A/C | — | uncertain significance |
| rs867829919 | 11:101,981,590 | G/A | — | uncertain significance |
| rs1025759993 | 11:101,981,599 | C/T | — | uncertain significance |
| rs775598673 | 11:101,981,600 | G/A | — | benign |
| rs747081306 | 11:101,981,612 | G/T | — | likely benign |
| rs1036138787 | 11:101,981,629 | G/T | — | uncertain significance |
| rs990765765 | 11:101,981,641 | C/T | — | uncertain significance |
| rs1345213083 | 11:101,981,648 | C/T | — | likely benign |
| rs2496404823 | 11:101,981,665 | C/A | — | uncertain significance |
| rs745691073 | 11:101,981,723 | C/T | — | likely benign |
| rs779905640 | 11:101,981,739 | A/C | — | uncertain significance |
| rs1190867473 | 11:101,981,742 | G/T | — | uncertain significance |
| rs201354835 | 11:101,981,783 | C/G | — | likely benign |
| rs965501205 | 11:101,981,815 | A/G | — | uncertain significance |
| rs1942868953 | 11:101,981,822 | C/T | — | likely benign |
| rs2135086778 | 11:101,981,836 | T/C | — | pathogenic |
| rs2496408599 | 11:101,981,884 | A/T | — | uncertain significance |
| rs1391431049 | 11:101,981,892 | T/C | — | uncertain significance |
| rs529940453 | 11:101,981,895 | C/A | — | likely benign |
| rs546561034 | 11:101,981,908 | C/T | — | likely benign |
| rs2033083 | 11:101,984,628 | C/T | — | benign |
| rs2033082 | 11:101,984,718 | A/G | — | benign |
| rs146585400 | 11:101,984,905 | C/T | — | likely benign |
| rs139179561 | 11:101,984,908 | A/G | — | likely benign |
| rs587777249 | 11:101,984,923 | C/T | stop gained | pathogenic |
| rs1288900479 | 11:101,984,987 | C/G | — | uncertain significance |
| rs143682472 | 11:101,985,018 | C/G | — | benign |
| rs12289891 | 11:101,985,027 | G/A | — | likely benign |
| rs1591100766 | 11:101,985,041 | C/G | — | likely pathogenic |
| rs3824930 | 11:101,985,302 | T/C | — | benign |
| rs1942689 | 11:101,991,703 | G/T | — | — |
| rs11225138 | 11:101,993,898 | G/C | intron variant | — |
| rs7108820 | 11:101,999,974 | T/C | intron variant | — |
| rs11225148 | 11:102,009,280 | A/G | regulatory region variant | — |
| rs537251084 | 11:102,033,193 | C/T | — | likely benign |
| rs2496328398 | 11:102,033,212 | C/T | — | uncertain significance |
| rs867350713 | 11:102,033,248 | G/C | — | uncertain significance |
| rs200650003 | 11:102,033,252 | C/A | — | uncertain significance |
| rs376161041 | 11:102,033,294 | C/T | — | uncertain significance |
| rs28438856 | 11:102,052,006 | C/T | intron variant | — |
| rs757972279 | 11:102,056,740 | G/T | — | likely benign |
| rs754591785 | 11:102,056,745 | A/T | — | likely benign |
| rs1947930460 | 11:102,056,821 | A/G | — | uncertain significance |
| rs1947931415 | 11:102,056,830 | C/T | — | uncertain significance |
| rs12787996 | 11:102,057,068 | C/A | — | benign |
| rs11225161 | 11:102,070,494 | C/T | intron variant | — |
| rs1894116 | 11:102,070,639 | A/G | intron variant | — |
| rs11225163 | 11:102,070,843 | C/T | intron variant | — |
| rs61746398 | 11:102,076,653 | C/T | — | likely benign |
| rs1265956918 | 11:102,076,683 | C/T | — | uncertain significance |
| rs756175059 | 11:102,076,700 | C/T | — | likely benign |
| rs112417656 | 11:102,076,717 | A/G | — | benign |
| rs946455650 | 11:102,076,722 | A/C | — | uncertain significance |
| rs73583921 | 11:102,076,815 | C/T | — | benign |
| rs7107909 | 11:102,079,986 | A/G | — | benign |
| rs79981660 | 11:102,080,228 | G/A | — | benign |
| rs193100333 | 11:102,080,254 | C/T | — | likely benign |
| rs527326391 | 11:102,080,267 | C/T | — | uncertain significance |
| rs183492039 | 11:102,080,278 | A/G | — | uncertain significance |
| rs777581023 | 11:102,080,287 | A/G | — | conflicting classifications of pathogenicity |
| rs10895275 | 11:102,083,608 | T/A | intron variant | — |
| rs10895276 | 11:102,083,695 | C/T | intron variant | — |
| rs11225166 | 11:102,090,467 | G/C | intron variant | — |
| rs587777250 | 11:102,094,386 | G/T | stop gained | pathogenic |
| rs61749258 | 11:102,094,424 | C/T | — | benign |
| rs10895278 | 11:102,095,335 | T/C | intron variant | — |
| rs745815140 | 11:102,098,281 | C/T | — | likely benign |
| rs3858420 | 11:102,098,354 | G/C | — | benign |
| rs116990751 | 11:102,100,429 | C/T | — | benign |
| rs61751183 | 11:102,100,510 | A/G | — | likely benign |
| rs759882394 | 11:102,100,560 | G/T | — | uncertain significance |
| rs141269128 | 11:102,100,572 | A/G | — | benign |
| rs1950375246 | 11:102,100,574 | G/C | — | uncertain significance |
| rs11225174 | 11:102,101,946 | T/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.