CLIP2
CAP-Gly domain containing linker protein 2
Summary
The protein encoded by this gene belongs to the family of cytoplasmic linker proteins, which have been proposed to mediate the interaction between specific membranous organelles and microtubules. This protein was found to associate with both microtubules and an organelle called the dendritic lamellar body. This gene is hemizygously deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]
Known Variants81 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs151111065 | 7:73,731,911 | G/A | — | uncertain significance |
| rs538727803 | 7:73,731,916 | G/A | — | uncertain significance |
| rs199728690 | 7:73,731,968 | C/T | — | uncertain significance |
| rs142367137 | 7:73,731,974 | C/T | — | uncertain significance |
| rs531429654 | 7:73,752,781 | C/T | — | uncertain significance |
| rs112253688 | 7:73,752,812 | C/T | — | benign |
| rs781989461 | 7:73,752,838 | C/G | — | uncertain significance |
| rs547019283 | 7:73,752,839 | C/G | — | likely benign |
| rs536187646 | 7:73,752,867 | G/C | — | uncertain significance |
| rs782724514 | 7:73,753,010 | C/T | — | likely benign |
| rs112969082 | 7:73,753,025 | G/A | — | benign |
| rs1332276102 | 7:73,753,038 | C/A | — | uncertain significance |
| rs1277195906 | 7:73,753,068 | A/C | — | uncertain significance |
| rs200574175 | 7:73,753,101 | C/A | — | uncertain significance |
| rs111609508 | 7:73,753,133 | C/T | — | likely benign |
| rs543387438 | 7:73,753,135 | C/G | — | uncertain significance |
| rs782801599 | 7:73,753,137 | G/A | — | uncertain significance |
| rs782204827 | 7:73,753,153 | C/T | — | uncertain significance |
| rs142629570 | 7:73,753,161 | C/T | — | benign |
| rs2487748778 | 7:73,753,189 | C/G | — | uncertain significance |
| rs61739991 | 7:73,753,191 | C/T | — | likely benign |
| rs1554732781 | 7:73,753,212 | C/T | — | uncertain significance |
| rs75967845 | 7:73,753,227 | G/A | — | uncertain significance |
| rs116688438 | 7:73,753,271 | C/A | — | uncertain significance |
| rs782703875 | 7:73,753,306 | A/G | — | uncertain significance |
| rs781909058 | 7:73,768,205 | G/A | — | likely benign |
| rs369942236 | 7:73,768,231 | G/A | — | uncertain significance |
| rs1463617123 | 7:73,768,325 | C/T | — | uncertain significance |
| rs111322217 | 7:73,771,780 | T/C | — | benign |
| rs140333329 | 7:73,778,608 | G/A | — | uncertain significance |
| rs374399582 | 7:73,790,271 | C/T | — | benign |
| rs782522877 | 7:73,790,346 | G/A | — | uncertain significance |
| rs375622097 | 7:73,790,349 | G/A | — | uncertain significance |
| rs368657404 | 7:73,790,362 | G/A | — | uncertain significance |
| rs1554312756 | 7:73,790,401 | A/G | — | uncertain significance |
| rs202242032 | 7:73,790,424 | G/A | — | uncertain significance |
| rs949431393 | 7:73,790,439 | G/A | — | uncertain significance |
| rs782457054 | 7:73,790,459 | G/A | — | likely benign |
| rs782292609 | 7:73,790,476 | G/A | — | uncertain significance |
| rs1554312801 | 7:73,790,566 | A/C | — | uncertain significance |
| rs781902843 | 7:73,790,669 | C/G | — | uncertain significance |
| rs2487822779 | 7:73,790,742 | C/T | — | uncertain significance |
| rs1304056901 | 7:73,790,790 | G/A | — | uncertain significance |
| rs78067654 | 7:73,790,807 | C/G | — | benign |
| rs782652859 | 7:73,790,817 | C/A | — | uncertain significance |
| rs781983397 | 7:73,790,833 | G/A | — | likely benign |
| rs782548183 | 7:73,790,873 | C/G | — | uncertain significance |
| rs782681449 | 7:73,790,904 | C/T | — | likely benign |
| rs376286431 | 7:73,790,905 | G/A | — | uncertain significance |
| rs73705363 | 7:73,790,948 | C/T | — | benign |
| rs767479757 | 7:73,790,968 | C/T | — | uncertain significance |
| rs146488093 | 7:73,790,969 | G/T | — | likely benign |
| rs374499437 | 7:73,791,009 | G/A | — | uncertain significance |
| rs75721312 | 7:73,791,033 | C/T | — | benign |
| rs138751835 | 7:73,791,034 | G/A | — | uncertain significance |
| rs199672192 | 7:73,791,082 | G/A | — | benign |
| rs199947783 | 7:73,791,084 | G/A | — | uncertain significance |
| rs782311150 | 7:73,791,126 | G/A | — | uncertain significance |
| rs781930569 | 7:73,791,130 | T/C | — | uncertain significance |
| rs547091070 | 7:73,791,152 | C/G | — | likely benign |
| rs200419329 | 7:73,795,169 | A/T | — | uncertain significance |
| rs2487843768 | 7:73,800,870 | C/T | — | likely benign |
| rs1791201725 | 7:73,803,438 | G/C | — | uncertain significance |
| rs373010706 | 7:73,803,492 | C/T | — | uncertain significance |
| rs782511561 | 7:73,803,495 | C/T | — | uncertain significance |
| rs141986767 | 7:73,803,526 | G/A | — | benign |
| rs111934854 | 7:73,803,539 | C/T | — | benign |
| rs368731513 | 7:73,803,580 | G/A | — | likely benign |
| rs144390075 | 7:73,811,413 | C/T | — | likely benign |
| rs139932932 | 7:73,811,442 | A/G | — | uncertain significance |
| rs76865959 | 7:73,811,479 | T/C | — | benign |
| rs782038318 | 7:73,811,502 | G/A | — | uncertain significance |
| rs782542403 | 7:73,814,706 | G/C | — | uncertain significance |
| rs782439756 | 7:73,814,745 | G/A | — | uncertain significance |
| rs781915980 | 7:73,814,748 | C/T | — | uncertain significance |
| rs2522943 | 7:73,814,749 | G/A | missense variant | — |
| rs782033519 | 7:73,814,755 | C/T | — | uncertain significance |
| rs782621657 | 7:73,814,804 | C/A | — | uncertain significance |
| rs564653684 | 7:73,816,892 | C/T | — | — |
| rs1241099670 | 7:73,818,167 | G/A | — | uncertain significance |
| rs1178852228 | 7:73,818,168 | A/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.