CELSR3
cadherin EGF LAG seven-pass G-type receptor 3
Summary
This gene belongs to the flamingo subfamily, which is included in the cadherin superfamily. The flamingo cadherins consist of nonclassic-type cadherins that do not interact with catenins. They are plasma membrane proteins containing seven epidermal growth factor-like repeats, nine cadherin domains and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic feature of their subfamily. The encoded protein may be involved in the regulation of contact-dependent neurite growth and may play a role in tumor formation. [provided by RefSeq, Jun 2013]
Known Variants260 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs200275511 | 3:48,675,629 | G/A | — | likely benign |
| rs369652176 | 3:48,675,673 | C/T | — | likely benign |
| rs13096357 | 3:48,675,856 | C/A | upstream gene variant | — |
| rs61729240 | 3:48,677,114 | C/G | — | benign |
| rs373106405 | 3:48,677,136 | G/A | — | likely benign |
| rs376186501 | 3:48,677,143 | G/A | — | likely benign |
| rs762844075 | 3:48,677,150 | A/G | — | uncertain significance |
| rs2531565664 | 3:48,677,188 | G/A | — | uncertain significance |
| rs61729242 | 3:48,677,191 | G/A | — | benign |
| rs752095861 | 3:48,677,294 | G/C | — | uncertain significance |
| rs2531566280 | 3:48,677,326 | A/G | — | likely benign |
| rs1255119007 | 3:48,677,329 | G/A | — | uncertain significance |
| rs561764974 | 3:48,677,384 | G/T | — | uncertain significance |
| rs200533765 | 3:48,677,389 | C/T | — | uncertain significance |
| rs115648137 | 3:48,677,416 | C/T | — | benign |
| rs144164666 | 3:48,677,452 | C/T | — | benign |
| rs144112915 | 3:48,677,530 | C/T | — | uncertain significance |
| rs772862640 | 3:48,677,536 | C/T | — | uncertain significance |
| rs769254685 | 3:48,677,537 | G/A | — | likely benign |
| rs200877975 | 3:48,677,540 | G/A | — | likely benign |
| rs146659525 | 3:48,677,569 | C/T | — | likely benign |
| rs751298415 | 3:48,677,617 | A/T | — | uncertain significance |
| rs150960747 | 3:48,677,621 | C/T | — | likely benign |
| rs1479919862 | 3:48,677,636 | G/A | — | uncertain significance |
| rs778590372 | 3:48,677,719 | C/G | — | likely pathogenic |
| rs1339698934 | 3:48,677,756 | C/T | — | uncertain significance |
| rs369687228 | 3:48,677,766 | T/C | — | likely benign |
| rs368163979 | 3:48,677,788 | C/T | — | benign |
| rs771020648 | 3:48,677,824 | C/T | — | uncertain significance |
| rs374253690 | 3:48,677,825 | G/A | — | conflicting classifications of pathogenicity |
| rs372683231 | 3:48,677,859 | G/A | — | likely benign |
| rs368180874 | 3:48,677,873 | G/A | — | uncertain significance |
| rs757771242 | 3:48,677,893 | A/G | — | uncertain significance |
| rs1264195 | 3:48,677,895 | A/T | — | benign |
| rs201004738 | 3:48,677,920 | C/T | — | benign |
| rs568369822 | 3:48,677,921 | G/A | — | uncertain significance |
| rs2531568449 | 3:48,677,927 | A/C | — | uncertain significance |
| rs548525221 | 3:48,677,948 | G/C | — | uncertain significance |
| rs537517671 | 3:48,677,978 | G/A | — | uncertain significance |
| rs774981798 | 3:48,678,777 | C/T | — | uncertain significance |
| rs763316177 | 3:48,678,812 | C/T | — | likely benign |
| rs138606642 | 3:48,678,813 | G/C | — | benign |
| rs2047025254 | 3:48,678,842 | C/A | — | uncertain significance |
| rs539505765 | 3:48,678,879 | C/G | — | uncertain significance |
| rs201895118 | 3:48,678,897 | G/C | — | uncertain significance |
| rs369132778 | 3:48,678,907 | C/T | — | uncertain significance |
| rs78230005 | 3:48,678,945 | T/C | — | uncertain significance |
| rs2531571318 | 3:48,678,955 | C/T | — | uncertain significance |
| rs1284159485 | 3:48,679,322 | C/A | — | uncertain significance |
| rs780740673 | 3:48,679,343 | C/T | — | likely risk allele |
| rs746195414 | 3:48,679,350 | G/A | — | likely benign |
| rs187876703 | 3:48,679,352 | G/A | — | uncertain significance |
| rs780586975 | 3:48,679,355 | C/T | — | uncertain significance |
| rs747576733 | 3:48,679,356 | G/A | — | uncertain significance |
| rs151064682 | 3:48,679,798 | T/C | — | likely benign |
| rs141516372 | 3:48,679,862 | T/C | — | uncertain significance |
| rs756209930 | 3:48,679,871 | G/A | — | uncertain significance |
| rs1035385538 | 3:48,679,883 | C/A | — | uncertain significance |
| rs202210118 | 3:48,680,182 | G/A | — | uncertain significance |
| rs533581460 | 3:48,680,188 | G/A | — | uncertain significance |
| rs2531574631 | 3:48,680,244 | G/T | — | likely pathogenic |
| rs752951161 | 3:48,680,251 | C/T | — | uncertain significance |
| rs61729238 | 3:48,680,252 | G/A | — | benign |
| rs1417893735 | 3:48,680,263 | T/C | — | uncertain significance |
| rs1284822112 | 3:48,680,289 | A/G | — | uncertain significance |
| rs780345420 | 3:48,680,290 | G/A | — | uncertain significance |
| rs147947825 | 3:48,680,431 | G/A | — | likely benign |
| rs771228421 | 3:48,680,441 | T/C | — | uncertain significance |
| rs1044170496 | 3:48,681,040 | T/G | — | uncertain significance |
| rs1422853760 | 3:48,681,642 | A/G | — | likely benign |
| rs560454528 | 3:48,681,669 | C/A | — | uncertain significance |
| rs1413749576 | 3:48,681,733 | A/C | — | likely benign |
| rs926413112 | 3:48,682,235 | C/T | — | likely pathogenic |
| rs147124288 | 3:48,682,486 | C/T | — | benign |
| rs143560173 | 3:48,682,512 | C/T | — | uncertain significance |
| rs777952981 | 3:48,682,519 | C/T | — | uncertain significance |
| rs145413655 | 3:48,682,525 | G/A | — | uncertain significance |
| rs1293413337 | 3:48,682,536 | C/T | — | uncertain significance |
| rs149614835 | 3:48,682,550 | C/T | — | benign |
| rs751920709 | 3:48,682,555 | G/A | — | uncertain significance |
| rs2531582875 | 3:48,682,557 | T/G | — | uncertain significance |
| rs769423919 | 3:48,682,586 | C/T | — | likely benign |
| rs138657991 | 3:48,682,587 | G/A | — | likely risk allele |
| rs2531583021 | 3:48,682,604 | G/A | — | likely benign |
| rs2047069149 | 3:48,682,639 | C/T | — | uncertain significance |
| rs34638686 | 3:48,682,658 | C/G | — | — |
| rs773293357 | 3:48,682,945 | G/T | — | likely benign |
| rs571290185 | 3:48,682,958 | C/T | — | uncertain significance |
| rs993609928 | 3:48,682,982 | A/G | — | uncertain significance |
| rs1193192169 | 3:48,683,004 | T/A | — | uncertain significance |
| rs749944897 | 3:48,683,043 | G/A | — | uncertain significance |
| rs770870398 | 3:48,683,252 | T/C | — | uncertain significance |
| rs767046464 | 3:48,683,264 | C/T | — | likely pathogenic |
| rs762259677 | 3:48,683,272 | C/T | — | uncertain significance |
| rs375942711 | 3:48,683,285 | C/A | — | uncertain significance |
| rs369860222 | 3:48,683,563 | G/A | — | likely pathogenic |
| rs144325241 | 3:48,683,591 | T/C | — | likely benign |
| rs118038433 | 3:48,683,635 | C/T | — | benign |
| rs143320362 | 3:48,683,674 | C/T | — | benign |
| rs760232249 | 3:48,683,685 | G/A | — | uncertain significance |
Showing 100 of 260 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.