KLHL17
kelch like family member 17
Summary
The protein encoded by this gene is expressed in neurons of most regions of the brain. It contains an N-terminal BTB domain, which mediates dimerization of the protein, and a C-terminal Kelch domain, which mediates binding to F-actin. This protein may play a key role in the regulation of actin-based neuronal function. [provided by RefSeq, Aug 2010]
Known Variants72 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2522827392 | 1:896,089 | G/C | — | uncertain significance |
| rs995802798 | 1:896,710 | C/T | — | uncertain significance |
| rs771436592 | 1:896,717 | C/T | — | uncertain significance |
| rs374429258 | 1:896,749 | C/T | — | uncertain significance |
| rs1420293206 | 1:896,752 | G/A | — | uncertain significance |
| rs1642637221 | 1:896,759 | A/C | — | uncertain significance |
| rs780196143 | 1:896,763 | C/G | — | uncertain significance |
| rs760597597 | 1:896,777 | C/G | — | uncertain significance |
| rs138690517 | 1:897,009 | A/G | — | conflicting classifications of pathogenicity |
| rs2522836838 | 1:897,016 | G/A | — | uncertain significance |
| rs1324406382 | 1:897,125 | G/A | — | uncertain significance |
| rs181725337 | 1:897,133 | G/A | — | likely benign |
| rs1191298466 | 1:897,226 | T/A | — | uncertain significance |
| rs149866042 | 1:897,285 | A/G | — | uncertain significance |
| rs759089843 | 1:897,353 | G/A | — | uncertain significance |
| rs762611286 | 1:897,365 | G/T | — | uncertain significance |
| rs115528693 | 1:897,726 | C/T | — | benign |
| rs367750669 | 1:897,760 | G/C | — | uncertain significance |
| rs1044310482 | 1:897,786 | G/A | — | uncertain significance |
| rs148945952 | 1:897,793 | G/A | — | uncertain significance |
| rs138271663 | 1:897,815 | A/T | — | uncertain significance |
| rs746924238 | 1:897,831 | C/T | — | uncertain significance |
| rs146903778 | 1:897,849 | C/T | — | uncertain significance |
| rs201385366 | 1:897,866 | C/T | upstream gene variant | — |
| rs1308922902 | 1:898,088 | T/C | — | uncertain significance |
| rs557137194 | 1:898,093 | T/G | — | uncertain significance |
| rs79110607 | 1:898,119 | C/T | — | benign |
| rs139584338 | 1:898,137 | C/G | — | uncertain significance |
| rs147703918 | 1:898,153 | C/A | — | likely benign |
| rs2522850638 | 1:898,194 | G/C | — | uncertain significance |
| rs373273289 | 1:898,231 | G/A | — | uncertain significance |
| rs146171900 | 1:898,247 | G/A | — | uncertain significance |
| rs148661653 | 1:898,262 | G/A | — | uncertain significance |
| rs780360560 | 1:898,269 | G/T | — | uncertain significance |
| rs372737116 | 1:898,307 | C/T | — | likely benign |
| rs41285808 | 1:898,467 | C/T | — | benign |
| rs2522854127 | 1:898,498 | G/A | — | uncertain significance |
| rs769368672 | 1:898,537 | C/G | — | uncertain significance |
| rs757251175 | 1:898,576 | C/T | — | uncertain significance |
| rs781073623 | 1:898,578 | C/T | — | uncertain significance |
| rs61746776 | 1:898,613 | C/T | — | benign |
| rs113057758 | 1:898,729 | C/G | — | likely benign |
| rs2522856488 | 1:898,742 | A/G | — | uncertain significance |
| rs143920987 | 1:898,787 | G/T | — | uncertain significance |
| rs775587429 | 1:898,850 | G/A | — | uncertain significance |
| rs117269332 | 1:898,852 | C/T | — | benign |
| rs138106672 | 1:898,869 | C/T | — | uncertain significance |
| rs1304596305 | 1:898,881 | A/C | — | uncertain significance |
| rs376669827 | 1:899,308 | G/A | — | uncertain significance |
| rs767633652 | 1:899,313 | G/A | — | uncertain significance |
| rs1207032932 | 1:899,325 | G/A | — | uncertain significance |
| rs761976545 | 1:899,343 | G/A | — | uncertain significance |
| rs1557633882 | 1:899,377 | T/C | — | uncertain significance |
| rs150320996 | 1:899,515 | C/T | — | likely benign |
| rs1642802737 | 1:899,742 | C/T | — | uncertain significance |
| rs1318281425 | 1:899,801 | G/T | — | uncertain significance |
| rs1642808681 | 1:899,819 | G/A | — | uncertain significance |
| rs2522866296 | 1:899,891 | G/A | — | uncertain significance |
| rs756054473 | 1:899,892 | C/A | — | likely pathogenic |
| rs2522866346 | 1:899,894 | C/T | — | uncertain significance |
| rs1230726329 | 1:899,898 | T/C | — | uncertain significance |
| rs2522866729 | 1:899,900 | A/G | — | uncertain significance |
| rs2522866804 | 1:899,904 | T/C | — | uncertain significance |
| rs1385490547 | 1:899,905 | C/G | — | uncertain significance |
| rs948255314 | 1:899,906 | C/T | — | uncertain significance |
| rs780060600 | 1:899,907 | G/A | — | uncertain significance |
| rs768159011 | 1:899,909 | A/T | — | uncertain significance |
| rs1241010084 | 1:899,919 | T/G | — | likely benign |
| rs367607226 | 1:900,371 | G/A | — | uncertain significance |
| rs2522875966 | 1:900,405 | G/A | — | uncertain significance |
| rs72891155 | 1:900,439 | G/A | — | benign |
| rs930178330 | 1:900,545 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.