KLHL40
kelch like family member 40
Summary
This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012]
Known Variants430 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3888652 | 3:42,726,718 | A/G | — | benign |
| rs147745841 | 3:42,726,832 | G/A | — | likely benign |
| rs750666877 | 3:42,727,097 | C/G | — | likely benign |
| rs562643282 | 3:42,727,116 | G/T | — | likely benign |
| rs780397905 | 3:42,727,123 | T/C | — | likely benign |
| rs2471306907 | 3:42,727,126 | G/A | — | uncertain significance |
| rs772847156 | 3:42,727,132 | G/A | — | uncertain significance |
| rs1165144213 | 3:42,727,133 | C/T | — | uncertain significance |
| rs1575218072 | 3:42,727,135 | G/T | — | likely pathogenic |
| rs748935246 | 3:42,727,145 | G/C | — | uncertain significance |
| rs2471306967 | 3:42,727,159 | A/G | — | uncertain significance |
| rs888481518 | 3:42,727,162 | C/G | — | uncertain significance |
| rs1292866391 | 3:42,727,168 | C/T | — | pathogenic |
| rs759340232 | 3:42,727,173 | C/T | — | likely benign |
| rs750482533 | 3:42,727,187 | T/G | — | uncertain significance |
| rs1437347386 | 3:42,727,191 | G/A | — | likely benign |
| rs370340355 | 3:42,727,195 | C/T | — | uncertain significance |
| rs375788187 | 3:42,727,196 | A/G | — | uncertain significance |
| rs140056720 | 3:42,727,198 | G/A | — | uncertain significance |
| rs777475748 | 3:42,727,203 | G/T | — | uncertain significance |
| rs138075372 | 3:42,727,207 | C/T | — | conflicting classifications of pathogenicity |
| rs567980135 | 3:42,727,209 | C/T | — | likely benign |
| rs778565563 | 3:42,727,210 | G/C | — | conflicting classifications of pathogenicity |
| rs866611021 | 3:42,727,214 | G/A | — | uncertain significance |
| rs1227493178 | 3:42,727,215 | T/C | — | likely benign |
| rs533754492 | 3:42,727,218 | G/A | — | likely benign |
| rs375030080 | 3:42,727,227 | G/A | — | likely benign |
| rs1575218183 | 3:42,727,229 | G/A | — | uncertain significance |
| rs763047874 | 3:42,727,234 | C/A | — | uncertain significance |
| rs907216548 | 3:42,727,235 | G/A | — | uncertain significance |
| rs751744627 | 3:42,727,245 | G/C | — | likely benign |
| rs759817120 | 3:42,727,250 | A/T | — | uncertain significance |
| rs768035335 | 3:42,727,254 | C/G | — | likely benign |
| rs1004240706 | 3:42,727,258 | G/A | — | uncertain significance |
| rs1697260624 | 3:42,727,274 | G/A | — | uncertain significance |
| rs778303947 | 3:42,727,286 | G/C | — | likely pathogenic |
| rs753296803 | 3:42,727,287 | G/A | — | likely benign |
| rs778276929 | 3:42,727,292 | G/A | — | uncertain significance |
| rs995719770 | 3:42,727,297 | C/T | — | likely benign |
| rs745589468 | 3:42,727,299 | A/G | — | likely benign |
| rs1697261127 | 3:42,727,302 | C/G | — | likely benign |
| rs779869498 | 3:42,727,303 | G/A | — | uncertain significance |
| rs200810691 | 3:42,727,307 | C/G | — | uncertain significance |
| rs776029089 | 3:42,727,317 | G/A | — | likely benign |
| rs375331819 | 3:42,727,321 | G/T | — | pathogenic |
| rs2471307284 | 3:42,727,331 | T/C | — | uncertain significance |
| rs2471307288 | 3:42,727,332 | G/A | — | likely benign |
| rs2125844563 | 3:42,727,333 | G/T | — | pathogenic |
| rs764839928 | 3:42,727,335 | G/A | — | likely benign |
| rs1424119243 | 3:42,727,341 | G/A | — | likely benign |
| rs779637973 | 3:42,727,346 | C/T | — | uncertain significance |
| rs144461124 | 3:42,727,348 | G/C | — | conflicting classifications of pathogenicity |
| rs1246685748 | 3:42,727,358 | C/T | — | uncertain significance |
| rs780835485 | 3:42,727,361 | A/G | — | uncertain significance |
| rs1277851312 | 3:42,727,380 | C/G | — | pathogenic |
| rs1419343736 | 3:42,727,383 | A/G | — | likely benign |
| rs924279167 | 3:42,727,385 | C/G | — | pathogenic |
| rs202061995 | 3:42,727,387 | G/C | — | likely benign |
| rs1697262926 | 3:42,727,394 | C/A | — | uncertain significance |
| rs772428570 | 3:42,727,398 | G/A | — | likely benign |
| rs760969518 | 3:42,727,399 | G/T | — | uncertain significance |
| rs2125844586 | 3:42,727,405 | G/A | — | uncertain significance |
| rs915743218 | 3:42,727,406 | C/T | — | uncertain significance |
| rs765609919 | 3:42,727,410 | C/A | — | uncertain significance |
| rs574760880 | 3:42,727,413 | G/A | — | likely benign |
| rs140114698 | 3:42,727,431 | G/A | — | likely benign |
| rs35033264 | 3:42,727,434 | A/G | — | benign |
| rs780279322 | 3:42,727,450 | C/T | — | uncertain significance |
| rs1333354759 | 3:42,727,451 | C/T | — | uncertain significance |
| rs371748730 | 3:42,727,454 | C/T | — | uncertain significance |
| rs768735358 | 3:42,727,458 | C/A | — | likely benign |
| rs2125844609 | 3:42,727,463 | C/T | — | uncertain significance |
| rs762040421 | 3:42,727,464 | C/G | — | likely benign |
| rs1245898945 | 3:42,727,465 | A/G | — | uncertain significance |
| rs2471307485 | 3:42,727,469 | G/C | — | uncertain significance |
| rs201494537 | 3:42,727,471 | G/C | — | uncertain significance |
| rs1259316854 | 3:42,727,489 | C/T | — | uncertain significance |
| rs765939784 | 3:42,727,495 | T/G | — | uncertain significance |
| rs751036389 | 3:42,727,496 | G/C | — | uncertain significance |
| rs142509355 | 3:42,727,498 | C/T | — | uncertain significance |
| rs767039942 | 3:42,727,505 | A/G | — | uncertain significance |
| rs752541165 | 3:42,727,522 | C/T | — | uncertain significance |
| rs142285083 | 3:42,727,523 | G/C | — | uncertain significance |
| rs1328688864 | 3:42,727,526 | T/C | — | uncertain significance |
| rs1403829228 | 3:42,727,529 | G/C | — | uncertain significance |
| rs780332509 | 3:42,727,537 | C/T | — | uncertain significance |
| rs374038735 | 3:42,727,540 | G/C | — | uncertain significance |
| rs781200087 | 3:42,727,543 | T/A | — | uncertain significance |
| rs773559255 | 3:42,727,545 | C/T | — | likely benign |
| rs1200091429 | 3:42,727,549 | C/A | — | uncertain significance |
| rs138852341 | 3:42,727,557 | C/T | — | likely benign |
| rs1340639441 | 3:42,727,568 | G/A | — | uncertain significance |
| rs2471307683 | 3:42,727,570 | G/A | — | uncertain significance |
| rs752354484 | 3:42,727,576 | A/C | — | uncertain significance |
| rs1378856635 | 3:42,727,578 | C/G | — | uncertain significance |
| rs562925616 | 3:42,727,582 | G/T | — | uncertain significance |
| rs753666861 | 3:42,727,585 | C/G | — | uncertain significance |
| rs2125844656 | 3:42,727,587 | C/T | — | likely benign |
| rs201718319 | 3:42,727,590 | C/T | — | likely benign |
| rs375754573 | 3:42,727,596 | G/A | — | likely benign |
Showing 100 of 430 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.