HERC6
HECT and RLD domain containing E3 ubiquitin protein ligase family member 6
Summary
HERC6 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008]
Known Variants70 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs778883649 | 4:89,300,105 | A/G | — | likely benign |
| rs960604376 | 4:89,300,112 | G/T | — | uncertain significance |
| rs777432058 | 4:89,300,116 | C/G | — | uncertain significance |
| rs369469759 | 4:89,300,223 | C/G | — | uncertain significance |
| rs201754540 | 4:89,304,375 | C/A | — | uncertain significance |
| rs376979630 | 4:89,304,420 | G/A | — | uncertain significance |
| rs1734411892 | 4:89,304,442 | T/C | — | uncertain significance |
| rs376461660 | 4:89,304,471 | G/C | — | uncertain significance |
| rs28532472 | 4:89,305,284 | T/C | intron variant | — |
| rs565462600 | 4:89,306,684 | A/G | — | uncertain significance |
| rs750950045 | 4:89,311,812 | G/A | — | uncertain significance |
| rs765675637 | 4:89,311,816 | T/C | — | uncertain significance |
| rs202143769 | 4:89,311,834 | G/A | — | uncertain significance |
| rs184338462 | 4:89,311,870 | C/T | — | uncertain significance |
| rs771055984 | 4:89,311,882 | C/T | — | uncertain significance |
| rs60722298 | 4:89,311,883 | G/A | — | benign |
| rs2476906630 | 4:89,311,924 | T/C | — | uncertain significance |
| rs1031027343 | 4:89,311,939 | C/T | — | uncertain significance |
| rs928283999 | 4:89,312,007 | G/A | — | uncertain significance |
| rs1427440192 | 4:89,314,661 | C/T | — | uncertain significance |
| rs367842543 | 4:89,317,197 | C/T | — | uncertain significance |
| rs756955564 | 4:89,317,266 | G/A | — | uncertain significance |
| rs371928322 | 4:89,318,061 | C/T | — | uncertain significance |
| rs749375812 | 4:89,318,089 | C/T | — | uncertain significance |
| rs377393318 | 4:89,318,107 | A/T | — | uncertain significance |
| rs370338108 | 4:89,319,295 | C/A | — | uncertain significance |
| rs2476996423 | 4:89,326,037 | T/C | — | uncertain significance |
| rs115213626 | 4:89,326,043 | C/T | — | uncertain significance |
| rs765593592 | 4:89,326,050 | C/T | — | uncertain significance |
| rs745705833 | 4:89,326,091 | A/G | — | uncertain significance |
| rs2476997241 | 4:89,326,107 | T/G | — | uncertain significance |
| rs369850043 | 4:89,326,115 | A/G | — | uncertain significance |
| rs771318545 | 4:89,326,721 | A/G | — | uncertain significance |
| rs370207650 | 4:89,329,678 | G/A | — | likely benign |
| rs1735920768 | 4:89,329,703 | T/A | — | uncertain significance |
| rs571683231 | 4:89,329,708 | A/G | — | uncertain significance |
| rs2477019872 | 4:89,329,755 | T/C | — | uncertain significance |
| rs772258440 | 4:89,334,280 | C/G | — | uncertain significance |
| rs777992001 | 4:89,334,281 | C/T | — | uncertain significance |
| rs751262685 | 4:89,334,349 | T/C | — | uncertain significance |
| rs2477146099 | 4:89,338,702 | C/G | — | uncertain significance |
| rs61734924 | 4:89,345,031 | G/A | — | benign |
| rs1434845208 | 4:89,345,085 | A/G | — | uncertain significance |
| rs6532068 | 4:89,345,760 | C/T | — | benign |
| rs2477436894 | 4:89,349,748 | C/A | — | uncertain significance |
| rs771436140 | 4:89,349,785 | G/T | — | uncertain significance |
| rs189379805 | 4:89,349,835 | G/A | — | likely benign |
| rs755742691 | 4:89,349,856 | G/A | — | uncertain significance |
| rs367578897 | 4:89,349,891 | A/G | — | uncertain significance |
| rs2477508093 | 4:89,352,398 | C/A | — | uncertain significance |
| rs1738166376 | 4:89,352,402 | A/T | — | uncertain significance |
| rs150287504 | 4:89,352,440 | A/C | — | likely benign |
| rs764940781 | 4:89,356,991 | G/A | — | likely benign |
| rs143485545 | 4:89,358,083 | C/A | — | benign |
| rs368085155 | 4:89,358,095 | T/C | — | uncertain significance |
| rs1434178847 | 4:89,358,866 | C/T | — | uncertain significance |
| rs1578436953 | 4:89,358,869 | T/C | — | uncertain significance |
| rs2477670448 | 4:89,358,888 | A/C | — | uncertain significance |
| rs368175716 | 4:89,361,031 | A/G | — | uncertain significance |
| rs200241111 | 4:89,361,055 | A/G | — | uncertain significance |
| rs1404391766 | 4:89,361,324 | C/A | — | uncertain significance |
| rs1276350467 | 4:89,361,336 | C/A | — | uncertain significance |
| rs199699848 | 4:89,363,401 | G/A | — | uncertain significance |
| rs61744364 | 4:89,363,414 | T/C | — | benign |
| rs2477790988 | 4:89,363,421 | G/A | — | uncertain significance |
| rs61740296 | 4:89,363,512 | C/A | — | benign |
| rs1251812123 | 4:89,363,518 | C/T | — | uncertain significance |
| rs2477796093 | 4:89,363,559 | G/C | — | uncertain significance |
| rs372480480 | 4:89,363,597 | G/A | — | uncertain significance |
| rs4413373 | 4:89,363,604 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.