DENND1A
DENN domain containing 1A
Summary
Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1A, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]
Known Variants71 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs376350165 | 9:126,143,751 | G/A | — | uncertain significance |
| rs1169237981 | 9:126,143,763 | G/A | — | uncertain significance |
| rs371138017 | 9:126,143,782 | G/A | — | uncertain significance |
| rs2042266965 | 9:126,143,797 | T/C | — | uncertain significance |
| rs773709278 | 9:126,143,842 | G/A | — | uncertain significance |
| rs376419805 | 9:126,143,959 | G/A | — | uncertain significance |
| rs777076599 | 9:126,143,976 | C/T | — | uncertain significance |
| rs766530275 | 9:126,143,985 | G/A | — | uncertain significance |
| rs755016081 | 9:126,143,997 | G/A | — | uncertain significance |
| rs903159600 | 9:126,144,022 | G/C | — | uncertain significance |
| rs778760002 | 9:126,144,141 | G/A | — | uncertain significance |
| rs374521148 | 9:126,144,190 | G/T | — | uncertain significance |
| rs2042297203 | 9:126,144,274 | G/A | — | uncertain significance |
| rs1387276918 | 9:126,144,286 | G/C | — | uncertain significance |
| rs1438212789 | 9:126,144,303 | G/T | — | uncertain significance |
| rs2550705801 | 9:126,144,328 | G/C | — | uncertain significance |
| rs551131472 | 9:126,144,340 | G/A | — | uncertain significance |
| rs762739882 | 9:126,144,349 | G/A | — | uncertain significance |
| rs2042304198 | 9:126,144,362 | C/G | — | uncertain significance |
| rs750988785 | 9:126,144,448 | G/A | — | uncertain significance |
| rs148982854 | 9:126,144,508 | G/C | — | uncertain significance |
| rs142681458 | 9:126,144,582 | C/A | — | uncertain significance |
| rs201926869 | 9:126,144,583 | G/A | — | uncertain significance |
| rs1311100904 | 9:126,144,594 | G/A | — | uncertain significance |
| rs200808594 | 9:126,144,604 | C/T | — | uncertain significance |
| rs375684700 | 9:126,144,701 | G/C | — | uncertain significance |
| rs781109163 | 9:126,144,711 | C/T | — | likely benign |
| rs1449224989 | 9:126,144,712 | G/A | — | uncertain significance |
| rs149353656 | 9:126,144,759 | G/A | — | benign |
| rs767572605 | 9:126,144,874 | G/A | — | uncertain significance |
| rs756967284 | 9:126,144,889 | C/T | — | likely benign |
| rs141908602 | 9:126,145,489 | C/T | downstream gene variant | — |
| rs778344810 | 9:126,146,032 | T/C | — | uncertain significance |
| rs377526181 | 9:126,146,050 | C/T | — | likely benign |
| rs571858526 | 9:126,146,065 | C/T | — | uncertain significance |
| rs1243663517 | 9:126,146,083 | C/T | — | uncertain significance |
| rs872863 | 9:126,154,354 | C/T | intron variant | — |
| rs772040166 | 9:126,202,659 | T/A | — | uncertain significance |
| rs1018252121 | 9:126,202,734 | C/T | — | uncertain significance |
| rs747062773 | 9:126,202,749 | C/A | — | uncertain significance |
| rs368539387 | 9:126,202,767 | T/A | — | uncertain significance |
| rs2551062704 | 9:126,212,977 | G/T | — | uncertain significance |
| rs530502915 | 9:126,213,018 | T/C | — | uncertain significance |
| rs141482045 | 9:126,213,026 | T/C | — | likely benign |
| rs2551070607 | 9:126,214,611 | T/C | — | uncertain significance |
| rs1207932916 | 9:126,217,019 | C/T | — | uncertain significance |
| rs147957932 | 9:126,220,094 | G/A | — | uncertain significance |
| rs201469755 | 9:126,220,148 | G/C | — | uncertain significance |
| rs7037102 | 9:126,317,639 | G/A | intron variant | — |
| rs753300648 | 9:126,319,881 | C/T | — | uncertain significance |
| rs750645781 | 9:126,319,917 | C/A | — | uncertain significance |
| rs7852296 | 9:126,352,218 | G/C | — | — |
| rs17215761 | 9:126,428,900 | A/G | intron variant | — |
| rs370312038 | 9:126,429,319 | T/C | — | uncertain significance |
| rs2063526609 | 9:126,429,333 | G/C | — | uncertain significance |
| rs2063752886 | 9:126,433,596 | G/A | — | uncertain significance |
| rs10818854 | 9:126,446,778 | G/A | intron variant | — |
| rs57261411 | 9:126,504,569 | G/A | regulatory region variant | — |
| rs28468603 | 9:126,507,274 | C/T | intron variant | — |
| rs2552063166 | 9:126,519,987 | G/C | — | uncertain significance |
| rs2479106 | 9:126,525,212 | A/G | downstream gene variant | — |
| rs1752167 | 9:126,540,566 | G/A | intron variant | — |
| rs10986105 | 9:126,549,955 | T/G | intron variant | — |
| rs7861905 | 9:126,555,072 | G/C | intron variant | — |
| rs2799467 | 9:126,570,251 | G/T | intron variant | — |
| rs539326826 | 9:126,580,544 | C/T | — | — |
| rs1752169 | 9:126,586,563 | C/A | intron variant | — |
| rs79924686 | 9:126,650,930 | T/C | intron variant | — |
| rs79252018 | 9:126,654,811 | C/G | intron variant | — |
| rs569675099 | 9:126,666,959 | G/A | — | — |
| rs7029033 | 9:126,682,068 | C/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.