COBL
cordon-bleu WH2 repeat protein
Summary
This gene encodes a protein that contains WH2 domains (WASP, Wiskott-Aldrich syndrome protein, homology domain-2) that interact with actin. The encoded actin regulator protein is required for growth and assembly of brush border microvilli that play a role in maintaining intestinal homeostasis. A similar protein in mouse functions in midbrain neural tube closure. A pseudogene of this gene is located on chromosome X. [provided by RefSeq, Oct 2016]
Known Variants102 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs146319427 | 7:51,092,845 | G/A | — | likely benign |
| rs374766330 | 7:51,092,865 | C/T | — | uncertain significance |
| rs76685455 | 7:51,092,872 | G/A | — | benign |
| rs1489059425 | 7:51,092,946 | G/A | — | uncertain significance |
| rs766033325 | 7:51,092,952 | G/A | — | uncertain significance |
| rs201787564 | 7:51,092,976 | G/A | — | uncertain significance |
| rs139118175 | 7:51,093,024 | C/T | — | uncertain significance |
| rs762209143 | 7:51,093,030 | C/T | — | uncertain significance |
| rs528601904 | 7:51,093,069 | C/A | — | uncertain significance |
| rs1176992794 | 7:51,094,314 | C/T | — | uncertain significance |
| rs777875725 | 7:51,094,347 | C/T | — | uncertain significance |
| rs768179389 | 7:51,094,359 | C/A | — | uncertain significance |
| rs114659987 | 7:51,094,963 | G/A | downstream gene variant | — |
| rs117542691 | 7:51,095,588 | T/C | — | uncertain significance |
| rs766864509 | 7:51,095,594 | C/G | — | uncertain significance |
| rs746769073 | 7:51,095,654 | C/T | — | likely benign |
| rs547420267 | 7:51,095,675 | A/C | — | uncertain significance |
| rs2540600873 | 7:51,095,690 | C/T | — | uncertain significance |
| rs780099196 | 7:51,095,698 | C/T | — | uncertain significance |
| rs747950142 | 7:51,095,719 | T/G | — | uncertain significance |
| rs773343530 | 7:51,095,726 | G/C | — | uncertain significance |
| rs749362981 | 7:51,095,737 | G/A | — | uncertain significance |
| rs200478913 | 7:51,095,752 | C/T | — | likely benign |
| rs139496262 | 7:51,095,815 | C/T | — | uncertain significance |
| rs368670111 | 7:51,095,836 | C/A | — | uncertain significance |
| rs145802420 | 7:51,095,837 | G/A | — | uncertain significance |
| rs777430797 | 7:51,095,905 | G/A | — | uncertain significance |
| rs779149777 | 7:51,095,938 | C/A | — | uncertain significance |
| rs144492946 | 7:51,095,940 | C/G | — | likely benign |
| rs1326661635 | 7:51,095,989 | G/A | — | uncertain significance |
| rs1263800981 | 7:51,096,017 | T/C | — | uncertain significance |
| rs920606707 | 7:51,096,088 | A/G | — | uncertain significance |
| rs372266870 | 7:51,096,094 | G/A | — | likely benign |
| rs774862992 | 7:51,096,109 | C/A | — | uncertain significance |
| rs151276908 | 7:51,096,121 | T/C | — | likely benign |
| rs770787924 | 7:51,096,258 | C/A | — | uncertain significance |
| rs370189979 | 7:51,096,263 | C/T | — | uncertain significance |
| rs759814093 | 7:51,096,276 | C/T | — | uncertain significance |
| rs750770329 | 7:51,096,353 | T/C | — | uncertain significance |
| rs199755175 | 7:51,096,400 | G/C | — | uncertain significance |
| rs747249558 | 7:51,096,415 | G/T | — | uncertain significance |
| rs150697717 | 7:51,096,418 | G/A | — | uncertain significance |
| rs755748486 | 7:51,096,463 | T/A | — | uncertain significance |
| rs1024411818 | 7:51,096,517 | G/C | — | uncertain significance |
| rs149772928 | 7:51,096,532 | G/A | — | uncertain significance |
| rs367789677 | 7:51,096,557 | C/T | — | uncertain significance |
| rs753468538 | 7:51,096,563 | C/T | — | likely benign |
| rs559191037 | 7:51,096,590 | C/T | — | uncertain significance |
| rs141355954 | 7:51,096,632 | C/G | — | uncertain significance |
| rs756282124 | 7:51,096,661 | A/G | — | uncertain significance |
| rs760398316 | 7:51,096,797 | C/T | — | uncertain significance |
| rs140856856 | 7:51,096,819 | C/T | — | likely benign |
| rs747554593 | 7:51,096,824 | C/T | — | uncertain significance |
| rs202194588 | 7:51,096,825 | G/C | — | uncertain significance |
| rs112568753 | 7:51,096,830 | C/G | — | benign |
| rs200168451 | 7:51,096,835 | C/T | — | uncertain significance |
| rs756820770 | 7:51,096,965 | C/T | — | uncertain significance |
| rs1223600522 | 7:51,096,976 | T/C | — | uncertain significance |
| rs61737866 | 7:51,096,992 | G/A | — | benign |
| rs1787929165 | 7:51,097,037 | G/A | — | uncertain significance |
| rs375644713 | 7:51,097,087 | G/A | — | uncertain significance |
| rs765323342 | 7:51,097,162 | A/G | — | uncertain significance |
| rs146340138 | 7:51,097,193 | C/T | — | likely benign |
| rs370469180 | 7:51,097,225 | T/C | — | likely benign |
| rs142839981 | 7:51,097,235 | C/G | — | uncertain significance |
| rs368473607 | 7:51,097,244 | A/C | — | uncertain significance |
| rs61739178 | 7:51,097,255 | G/A | — | benign |
| rs201337619 | 7:51,098,544 | C/T | — | likely benign |
| rs267601540 | 7:51,098,545 | G/A | — | uncertain significance |
| rs141681360 | 7:51,111,213 | T/C | — | uncertain significance |
| rs761742208 | 7:51,111,256 | C/T | — | uncertain significance |
| rs376898542 | 7:51,111,360 | A/C | — | uncertain significance |
| rs185086631 | 7:51,144,057 | G/A | regulatory region variant | — |
| rs1353157716 | 7:51,152,932 | G/A | — | uncertain significance |
| rs200241375 | 7:51,152,958 | C/T | — | uncertain significance |
| rs192731501 | 7:51,203,862 | G/A | — | uncertain significance |
| rs372443929 | 7:51,203,914 | G/A | — | uncertain significance |
| rs375366223 | 7:51,203,923 | T/C | — | uncertain significance |
| rs201215118 | 7:51,203,928 | G/A | — | uncertain significance |
| rs148755592 | 7:51,203,935 | C/T | — | uncertain significance |
| rs142332711 | 7:51,204,001 | A/G | — | uncertain significance |
| rs1275939462 | 7:51,251,803 | C/T | — | uncertain significance |
| rs76440598 | 7:51,258,566 | G/A | — | benign |
| rs762565296 | 7:51,258,630 | T/C | — | uncertain significance |
| rs771936587 | 7:51,258,724 | G/A | — | uncertain significance |
| rs750222809 | 7:51,261,089 | G/A | — | uncertain significance |
| rs201281315 | 7:51,261,138 | C/T | — | uncertain significance |
| rs2546941995 | 7:51,261,147 | C/T | — | uncertain significance |
| rs1790309236 | 7:51,261,156 | T/C | — | uncertain significance |
| rs1476984167 | 7:51,261,160 | A/C | — | uncertain significance |
| rs149682754 | 7:51,261,281 | G/A | — | uncertain significance |
| rs386352293 | 7:51,287,468 | C/A | — | uncertain significance |
| rs2547017254 | 7:51,287,471 | C/G | — | uncertain significance |
| rs770355015 | 7:51,287,496 | T/A | — | uncertain significance |
| rs79885281 | 7:51,287,512 | C/T | — | benign |
| rs201325705 | 7:51,287,537 | T/C | — | uncertain significance |
| rs115321263 | 7:51,287,542 | C/T | — | benign |
| rs368613191 | 7:51,287,562 | G/C | — | uncertain significance |
| rs6977921 | 7:51,320,741 | A/G | intron variant | — |
| rs1803628753 | 7:51,384,291 | C/G | — | uncertain significance |
Showing 100 of 102 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.