ANKRD27
ankyrin repeat domain 27
Summary
Enables guanyl-nucleotide exchange factor activity and small GTPase binding activity. Involved in endocytic recycling and negative regulation of SNARE complex assembly. Acts upstream of or within early endosome to late endosome transport. Located in several cellular components, including cytosol; endosome; and lysosome. Implicated in eosinophilic esophagitis. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants74 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs767392918 | 19:33,089,146 | G/C | — | uncertain significance |
| rs148375756 | 19:33,089,209 | T/A | — | uncertain significance |
| rs764129016 | 19:33,089,233 | C/T | — | likely benign |
| rs17692896 | 19:33,089,431 | G/A | intron variant | — |
| rs34540877 | 19:33,090,271 | T/C | intron variant | — |
| rs1330142821 | 19:33,090,639 | G/C | — | uncertain significance |
| rs2513169866 | 19:33,090,674 | G/A | — | uncertain significance |
| rs2513170356 | 19:33,090,956 | C/G | — | uncertain significance |
| rs758744476 | 19:33,095,183 | C/T | — | uncertain significance |
| rs145676546 | 19:33,095,200 | C/T | — | uncertain significance |
| rs368048040 | 19:33,095,246 | C/T | — | uncertain significance |
| rs769389334 | 19:33,095,249 | C/T | — | uncertain significance |
| rs372948651 | 19:33,096,838 | G/A | — | uncertain significance |
| rs568786951 | 19:33,096,853 | T/G | — | uncertain significance |
| rs746286936 | 19:33,098,633 | G/A | — | uncertain significance |
| rs558381081 | 19:33,098,644 | G/A | — | likely benign |
| rs761307804 | 19:33,098,647 | C/G | — | uncertain significance |
| rs199917693 | 19:33,098,653 | T/C | — | uncertain significance |
| rs939949136 | 19:33,098,659 | G/A | — | uncertain significance |
| rs562931288 | 19:33,098,660 | C/A | — | uncertain significance |
| rs377167587 | 19:33,098,674 | G/A | — | uncertain significance |
| rs141153706 | 19:33,098,692 | C/T | — | likely benign |
| rs771538899 | 19:33,098,699 | C/T | — | uncertain significance |
| rs1197230734 | 19:33,098,738 | T/C | — | uncertain significance |
| rs9636114 | 19:33,101,151 | G/C | upstream gene variant | — |
| rs139210618 | 19:33,106,601 | G/A | — | uncertain significance |
| rs146025565 | 19:33,106,618 | G/A | — | likely benign |
| rs2513184765 | 19:33,106,677 | G/C | — | uncertain significance |
| rs765442503 | 19:33,106,686 | C/A | — | uncertain significance |
| rs382416 | 19:33,107,938 | G/A | intron variant | — |
| rs777505047 | 19:33,110,260 | G/A | — | uncertain significance |
| rs201500413 | 19:33,110,263 | C/A | — | uncertain significance |
| rs141524480 | 19:33,110,404 | G/A | — | uncertain significance |
| rs781145364 | 19:33,110,405 | A/G | — | uncertain significance |
| rs200779987 | 19:33,110,408 | A/G | — | uncertain significance |
| rs778120571 | 19:33,110,418 | C/G | — | uncertain significance |
| rs12151311 | 19:33,112,707 | T/C | intron variant | — |
| rs146675026 | 19:33,113,434 | C/T | — | uncertain significance |
| rs765264134 | 19:33,113,446 | T/C | — | uncertain significance |
| rs756239129 | 19:33,113,491 | G/A | — | uncertain significance |
| rs1972029819 | 19:33,113,504 | A/G | — | uncertain significance |
| rs1972029912 | 19:33,113,507 | A/G | — | uncertain significance |
| rs1466075684 | 19:33,113,516 | C/A | — | uncertain significance |
| rs144483185 | 19:33,116,817 | G/A | — | uncertain significance |
| rs780814458 | 19:33,116,842 | C/G | — | uncertain significance |
| rs776736848 | 19:33,116,844 | G/A | — | uncertain significance |
| rs368580184 | 19:33,116,845 | C/A | — | uncertain significance |
| rs2513197276 | 19:33,117,731 | G/C | — | uncertain significance |
| rs767480915 | 19:33,119,006 | T/A | — | uncertain significance |
| rs2513198910 | 19:33,119,045 | G/A | — | uncertain significance |
| rs999595118 | 19:33,119,065 | C/G | — | uncertain significance |
| rs2513199743 | 19:33,119,749 | C/G | — | uncertain significance |
| rs140034505 | 19:33,130,266 | G/C | — | uncertain significance |
| rs1487327029 | 19:33,130,362 | C/A | — | uncertain significance |
| rs201933686 | 19:33,130,374 | A/G | — | uncertain significance |
| rs762932720 | 19:33,131,229 | T/C | — | uncertain significance |
| rs866062215 | 19:33,132,944 | G/C | — | uncertain significance |
| rs2513211939 | 19:33,133,022 | A/G | — | uncertain significance |
| rs368452688 | 19:33,133,025 | T/C | — | uncertain significance |
| rs201782507 | 19:33,134,207 | T/C | — | uncertain significance |
| rs138679508 | 19:33,134,216 | C/G | — | uncertain significance |
| rs200553749 | 19:33,134,342 | C/G | — | uncertain significance |
| rs746211616 | 19:33,134,350 | T/C | — | uncertain significance |
| rs150864291 | 19:33,134,483 | G/T | — | uncertain significance |
| rs752994256 | 19:33,135,279 | G/C | — | uncertain significance |
| rs745583224 | 19:33,135,308 | C/T | — | uncertain significance |
| rs773607168 | 19:33,137,430 | T/C | — | uncertain significance |
| rs779024623 | 19:33,140,683 | T/C | — | uncertain significance |
| rs259251 | 19:33,149,768 | G/A | upstream gene variant | — |
| rs746199276 | 19:33,149,822 | T/G | — | uncertain significance |
| rs545576973 | 19:33,149,860 | C/T | — | uncertain significance |
| rs373828598 | 19:33,154,879 | G/T | — | — |
| rs7252621 | 19:33,156,368 | G/C | — | — |
| rs259283 | 19:33,163,103 | A/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.