ABCF1
ATP binding cassette subfamily F member 1
Summary
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the GCN20 subfamily. Unlike other members of the superfamily, this protein lacks the transmembrane domains which are characteristic of most ABC transporters. This protein may be regulated by tumor necrosis factor-alpha and play a role in enhancement of protein synthesis and the inflammation process. [provided by RefSeq, Jul 2008]
Known Variants46 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3132613 | 6:30,537,606 | C/T | — | — |
| rs529428649 | 6:30,539,269 | C/G | — | uncertain significance |
| rs2533401512 | 6:30,545,203 | G/A | — | uncertain significance |
| rs766492613 | 6:30,545,218 | A/C | — | uncertain significance |
| rs535721110 | 6:30,545,223 | C/G | — | uncertain significance |
| rs751151778 | 6:30,545,631 | G/A | — | uncertain significance |
| rs1404226235 | 6:30,545,659 | A/G | — | uncertain significance |
| rs978725879 | 6:30,545,869 | A/G | — | uncertain significance |
| rs577682644 | 6:30,545,908 | A/C | — | uncertain significance |
| rs764400757 | 6:30,545,910 | G/A | — | uncertain significance |
| rs543085187 | 6:30,545,934 | C/T | — | uncertain significance |
| rs777204865 | 6:30,546,130 | G/A | — | uncertain significance |
| rs145174924 | 6:30,546,143 | G/A | — | uncertain significance |
| rs766570808 | 6:30,546,284 | G/A | — | uncertain significance |
| rs6902544 | 6:30,548,210 | A/G | missense variant | — |
| rs148910105 | 6:30,548,231 | G/A | — | uncertain significance |
| rs1582582165 | 6:30,548,279 | G/A | — | uncertain significance |
| rs2533418647 | 6:30,548,295 | A/G | — | uncertain significance |
| rs144087897 | 6:30,550,175 | C/T | — | uncertain significance |
| rs746847046 | 6:30,550,249 | C/T | — | uncertain significance |
| rs1422507016 | 6:30,550,877 | C/T | — | uncertain significance |
| rs780792535 | 6:30,550,883 | A/G | — | likely benign |
| rs772442028 | 6:30,550,923 | G/A | — | uncertain significance |
| rs1801947916 | 6:30,551,452 | C/A | — | uncertain significance |
| rs748174962 | 6:30,551,583 | A/C | — | uncertain significance |
| rs772382046 | 6:30,551,595 | A/G | — | uncertain significance |
| rs61741255 | 6:30,552,053 | G/A | — | benign |
| rs2533438810 | 6:30,552,106 | A/G | — | uncertain significance |
| rs1159413189 | 6:30,552,236 | G/T | — | uncertain significance |
| rs542422641 | 6:30,552,298 | C/T | — | uncertain significance |
| rs1324983336 | 6:30,553,430 | A/G | — | uncertain significance |
| rs759900446 | 6:30,553,445 | A/G | — | uncertain significance |
| rs546592611 | 6:30,553,710 | A/G | — | uncertain significance |
| rs777222579 | 6:30,553,971 | G/A | — | uncertain significance |
| rs115337170 | 6:30,553,993 | C/T | — | benign |
| rs148962845 | 6:30,554,080 | A/G | — | uncertain significance |
| rs550300850 | 6:30,554,268 | C/G | — | likely benign |
| rs762848174 | 6:30,554,487 | C/T | — | uncertain significance |
| rs532558882 | 6:30,557,492 | C/T | — | uncertain significance |
| rs1458394595 | 6:30,557,623 | G/A | — | likely benign |
| rs142636782 | 6:30,557,940 | C/T | — | uncertain significance |
| rs754981516 | 6:30,557,967 | C/T | — | likely benign |
| rs769559771 | 6:30,558,339 | G/A | — | uncertain significance |
| rs1802394684 | 6:30,558,353 | A/G | — | uncertain significance |
| rs766298443 | 6:30,558,378 | A/T | — | uncertain significance |
| rs764600462 | 6:30,558,473 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.