HERC2
HECT and RLD domain containing E3 ubiquitin protein ligase 2
Summary
This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]
Known Variants767 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1129038 | 15:28,356,859 | C/T | 3 prime UTR variant | — |
| rs141739498 | 15:28,356,916 | C/T | — | uncertain significance |
| rs2548727069 | 15:28,356,919 | G/A | — | uncertain significance |
| rs762060698 | 15:28,356,989 | C/T | — | uncertain significance |
| rs188787231 | 15:28,356,992 | C/T | — | uncertain significance |
| rs144218321 | 15:28,357,019 | T/C | — | conflicting classifications of pathogenicity |
| rs1171782971 | 15:28,357,078 | T/C | — | uncertain significance |
| rs2142032442 | 15:28,358,254 | G/A | — | uncertain significance |
| rs141203755 | 15:28,358,282 | C/T | — | uncertain significance |
| rs376018767 | 15:28,358,313 | G/A | — | likely benign |
| rs137918449 | 15:28,358,331 | C/T | — | benign |
| rs374551104 | 15:28,358,343 | C/G | — | uncertain significance |
| rs201971030 | 15:28,358,353 | G/A | — | uncertain significance |
| rs769955734 | 15:28,358,357 | C/T | — | uncertain significance |
| rs2548732847 | 15:28,358,391 | C/T | — | likely benign |
| rs371858439 | 15:28,358,433 | C/T | — | likely benign |
| rs144912188 | 15:28,358,723 | G/A | — | uncertain significance |
| rs776447701 | 15:28,358,772 | C/T | — | uncertain significance |
| rs138725743 | 15:28,358,819 | T/C | — | likely benign |
| rs7495441 | 15:28,359,744 | G/A | — | benign |
| rs759840275 | 15:28,359,764 | T/C | — | uncertain significance |
| rs138594015 | 15:28,359,777 | G/A | — | uncertain significance |
| rs371771613 | 15:28,359,788 | G/A | — | uncertain significance |
| rs748944643 | 15:28,359,792 | G/A | — | uncertain significance |
| rs1888024356 | 15:28,359,810 | G/A | — | uncertain significance |
| rs767593276 | 15:28,359,886 | C/A | — | uncertain significance |
| rs1888032189 | 15:28,359,905 | T/C | — | uncertain significance |
| rs138341710 | 15:28,359,921 | T/G | — | uncertain significance |
| rs1232999849 | 15:28,360,586 | C/A | — | uncertain significance |
| rs1888123774 | 15:28,360,588 | G/A | — | uncertain significance |
| rs762092163 | 15:28,360,590 | G/A | — | likely benign |
| rs773410190 | 15:28,360,592 | T/C | — | uncertain significance |
| rs2142047130 | 15:28,360,595 | T/C | — | uncertain significance |
| rs2548749921 | 15:28,360,601 | T/C | — | uncertain significance |
| rs753682551 | 15:28,360,602 | C/T | — | uncertain significance |
| rs139713317 | 15:28,360,659 | G/A | — | likely benign |
| rs149338352 | 15:28,360,685 | C/T | — | uncertain significance |
| rs374508718 | 15:28,361,820 | G/A | — | uncertain significance |
| rs144844826 | 15:28,361,850 | C/T | — | uncertain significance |
| rs574228980 | 15:28,361,854 | C/T | — | conflicting classifications of pathogenicity |
| rs781420272 | 15:28,361,855 | G/A | — | uncertain significance |
| rs2142056219 | 15:28,361,876 | C/T | — | uncertain significance |
| rs1015302651 | 15:28,361,889 | A/C | — | uncertain significance |
| rs2548758425 | 15:28,361,932 | T/A | — | likely benign |
| rs2142056746 | 15:28,361,982 | C/T | — | uncertain significance |
| rs369621267 | 15:28,362,156 | C/T | — | likely benign |
| rs1383499723 | 15:28,362,186 | G/A | — | uncertain significance |
| rs1328574737 | 15:28,362,199 | G/C | — | uncertain significance |
| rs773579592 | 15:28,362,268 | G/A | — | likely benign |
| rs1224448657 | 15:28,362,294 | G/A | — | likely pathogenic |
| rs116879078 | 15:28,363,488 | C/T | intron variant | — |
| rs12913832 | 15:28,365,618 | A/G | regulatory region variant | association |
| rs7183877 | 15:28,365,733 | C/A | intron variant | — |
| rs780539733 | 15:28,366,487 | G/A | — | uncertain significance |
| rs747054677 | 15:28,366,530 | G/C | — | uncertain significance |
| rs1301972291 | 15:28,366,535 | C/T | — | uncertain significance |
| rs372640210 | 15:28,366,570 | C/T | — | likely benign |
| rs1382058267 | 15:28,369,208 | C/T | — | uncertain significance |
| rs374904521 | 15:28,369,214 | G/A | — | uncertain significance |
| rs2548796294 | 15:28,369,232 | G/C | — | uncertain significance |
| rs777881619 | 15:28,369,236 | C/T | — | uncertain significance |
| rs1334620543 | 15:28,369,299 | C/T | — | uncertain significance |
| rs11854005 | 15:28,369,323 | G/A | — | benign |
| rs1555401035 | 15:28,369,325 | C/T | — | uncertain significance |
| rs1889225611 | 15:28,369,335 | G/T | — | uncertain significance |
| rs150956191 | 15:28,369,337 | G/A | — | uncertain significance |
| rs771857121 | 15:28,369,360 | G/T | — | uncertain significance |
| rs140708332 | 15:28,369,364 | T/C | — | uncertain significance |
| rs149655254 | 15:28,370,191 | C/T | — | likely benign |
| rs765243004 | 15:28,370,199 | C/T | — | uncertain significance |
| rs758310203 | 15:28,370,205 | T/C | — | uncertain significance |
| rs751317705 | 15:28,370,209 | T/A | — | likely benign |
| rs139596817 | 15:28,370,228 | C/T | — | uncertain significance |
| rs146760133 | 15:28,370,275 | G/A | — | likely benign |
| rs140379541 | 15:28,370,293 | G/A | — | likely benign |
| rs373175587 | 15:28,375,310 | A/T | missense variant | pathogenic |
| rs1388162786 | 15:28,375,353 | G/A | — | uncertain significance |
| rs145535698 | 15:28,375,354 | C/T | — | uncertain significance |
| rs774403885 | 15:28,375,361 | T/C | — | likely benign |
| rs138063419 | 15:28,375,414 | A/T | — | uncertain significance |
| rs377613646 | 15:28,375,645 | G/A | — | conflicting classifications of pathogenicity |
| rs61756151 | 15:28,375,699 | G/A | — | benign |
| rs761764062 | 15:28,375,710 | T/G | — | uncertain significance |
| rs1890001963 | 15:28,375,712 | A/G | — | uncertain significance |
| rs1890172788 | 15:28,377,242 | A/T | — | uncertain significance |
| rs146646815 | 15:28,377,248 | T/C | — | uncertain significance |
| rs746962501 | 15:28,377,251 | T/C | — | uncertain significance |
| rs138275754 | 15:28,377,294 | G/A | — | likely benign |
| rs2548828641 | 15:28,377,299 | C/T | — | uncertain significance |
| rs2142165394 | 15:28,377,369 | G/A | — | likely benign |
| rs768130151 | 15:28,377,385 | C/T | — | uncertain significance |
| rs200811930 | 15:28,377,400 | G/A | — | uncertain significance |
| rs8025035 | 15:28,377,772 | T/C | — | benign |
| rs1405930417 | 15:28,377,801 | G/T | — | uncertain significance |
| rs200702908 | 15:28,377,829 | G/A | — | likely benign |
| rs556204835 | 15:28,377,847 | G/A | — | likely benign |
| rs1890234183 | 15:28,377,897 | C/T | — | uncertain significance |
| rs140970725 | 15:28,377,925 | G/A | — | likely benign |
| rs200047478 | 15:28,377,935 | A/G | — | benign |
| rs767672342 | 15:28,377,973 | C/T | — | likely benign |
Showing 100 of 767 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.