AFG1L
AFG1 like ATPase
Summary
This gene encodes a mitochondrial integral membrane protein that plays a role in mitochondrial protein homeostasis. The protein contains a P-loop motif and a five-domain structure that is conserved in fly, yeast, and bacteria. It functions to mediate the degradation of nuclear-encoded complex IV subunits. Two conserved estrogen receptor binding sites are located within 2.5 kb of this gene. Polymorphisms in this gene have been associated with bipolar disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs374091048 | 6:108,616,321 | C/T | — | uncertain significance |
| rs150464459 | 6:108,616,361 | C/G | — | uncertain significance |
| rs1364234065 | 6:108,616,369 | G/T | — | uncertain significance |
| rs1057423956 | 6:108,645,044 | C/T | — | uncertain significance |
| rs775039476 | 6:108,645,049 | G/A | — | uncertain significance |
| rs781307157 | 6:108,645,055 | A/G | — | likely benign |
| rs368683027 | 6:108,645,056 | T/A | — | uncertain significance |
| rs186208029 | 6:108,645,100 | G/A | — | uncertain significance |
| rs143222151 | 6:108,645,107 | A/G | — | uncertain significance |
| rs1777929147 | 6:108,645,209 | A/G | — | uncertain significance |
| rs9486860 | 6:108,660,219 | A/G | intron variant | — |
| rs2483047013 | 6:108,676,858 | G/A | — | uncertain significance |
| rs142793582 | 6:108,676,874 | G/A | — | uncertain significance |
| rs566171740 | 6:108,676,909 | A/G | — | uncertain significance |
| rs762807382 | 6:108,676,920 | C/T | — | uncertain significance |
| rs1779306956 | 6:108,677,969 | C/G | — | uncertain significance |
| rs2483053246 | 6:108,677,999 | G/A | — | uncertain significance |
| rs760198092 | 6:108,687,526 | G/C | — | uncertain significance |
| rs111608632 | 6:108,691,089 | C/T | downstream gene variant | — |
| rs6910380 | 6:108,725,990 | C/G | intron variant | — |
| rs9486879 | 6:108,738,491 | C/A | — | — |
| rs754802590 | 6:108,768,424 | G/T | — | uncertain significance |
| rs141071627 | 6:108,768,445 | C/T | — | uncertain significance |
| rs748534709 | 6:108,768,460 | G/A | — | uncertain significance |
| rs748529696 | 6:108,798,090 | G/A | — | uncertain significance |
| rs775187314 | 6:108,798,419 | T/C | — | uncertain significance |
| rs1773140880 | 6:108,798,424 | G/T | — | uncertain significance |
| rs2114815945 | 6:108,798,449 | C/G | — | uncertain significance |
| rs149594455 | 6:108,831,482 | C/T | — | uncertain significance |
| rs201547679 | 6:108,831,508 | C/G | — | uncertain significance |
| rs762298790 | 6:108,831,515 | G/A | — | uncertain significance |
| rs141756676 | 6:108,840,904 | G/A | — | uncertain significance |
| rs1260101349 | 6:108,840,968 | G/C | — | uncertain significance |
| rs201882620 | 6:108,841,008 | A/G | — | uncertain significance |
| rs777777216 | 6:108,843,570 | G/A | — | uncertain significance |
| rs377620743 | 6:108,843,576 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.