ADARB1
adenosine deaminase RNA specific B1
Summary
This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor subunit B by site-specific deamination of adenosines. Studies in rat found that this enzyme acted on its own pre-mRNA molecules to convert an AA dinucleotide to an AI dinucleotide which resulted in a new splice site. Alternative splicing of this gene results in several transcript variants, some of which have been characterized by the presence or absence of an ALU cassette insert and a short or long C-terminal region. [provided by RefSeq, Jul 2008]
Known Variants55 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs8130074 | 21:46,498,684 | C/G | upstream gene variant | — |
| rs12483758 | 21:46,499,256 | T/G | regulatory region variant | — |
| rs77423896 | 21:46,500,605 | A/G | intron variant | — |
| rs2003273 | 21:46,536,586 | C/G | — | — |
| rs144000111 | 21:46,554,658 | C/G | — | likely benign |
| rs403694 | 21:46,567,625 | C/G | — | — |
| rs427943 | 21:46,570,896 | A/T | — | — |
| rs394872 | 21:46,582,100 | C/T | intron variant | — |
| rs397092 | 21:46,582,564 | A/G | intron variant | — |
| rs375341807 | 21:46,595,675 | G/A | — | uncertain significance |
| rs2517941279 | 21:46,595,755 | G/C | — | uncertain significance |
| rs143795052 | 21:46,595,812 | C/T | — | uncertain significance |
| rs2517942692 | 21:46,595,849 | T/G | — | uncertain significance |
| rs115658841 | 21:46,595,925 | C/T | — | benign |
| rs2091682680 | 21:46,595,995 | A/G | — | pathogenic |
| rs2091685500 | 21:46,596,072 | C/T | — | likely benign |
| rs148155796 | 21:46,596,102 | C/T | — | likely benign |
| rs1416327833 | 21:46,596,104 | C/G | — | uncertain significance |
| rs760170426 | 21:46,596,140 | C/T | — | uncertain significance |
| rs1335649750 | 21:46,596,226 | G/T | — | uncertain significance |
| rs932355965 | 21:46,596,329 | T/C | — | uncertain significance |
| rs139706517 | 21:46,596,339 | C/T | — | likely benign |
| rs769342205 | 21:46,596,346 | C/G | — | uncertain significance |
| rs200567642 | 21:46,596,375 | C/T | — | likely benign |
| rs753903571 | 21:46,596,382 | G/A | — | uncertain significance |
| rs149552510 | 21:46,596,446 | C/T | — | uncertain significance |
| rs61735851 | 21:46,596,459 | G/A | — | likely benign |
| rs2517984747 | 21:46,600,266 | C/T | — | uncertain significance |
| rs147573765 | 21:46,600,355 | A/G | — | likely benign |
| rs778818769 | 21:46,602,522 | G/C | — | uncertain significance |
| rs748282501 | 21:46,602,523 | G/T | — | uncertain significance |
| rs2091993236 | 21:46,603,282 | A/G | — | uncertain significance |
| rs544025652 | 21:46,604,484 | A/G | — | uncertain significance |
| rs2518026134 | 21:46,604,898 | C/T | — | uncertain significance |
| rs201477864 | 21:46,604,922 | G/A | — | uncertain significance |
| rs2092054613 | 21:46,604,933 | A/G | — | pathogenic |
| rs1397649138 | 21:46,605,005 | C/T | — | uncertain significance |
| rs1416678912 | 21:46,624,477 | G/A | — | uncertain significance |
| rs146201109 | 21:46,624,486 | A/G | — | conflicting classifications of pathogenicity |
| rs370522638 | 21:46,624,560 | C/T | — | likely benign |
| rs183042891 | 21:46,624,561 | G/A | — | uncertain significance |
| rs1364071684 | 21:46,624,592 | G/A | — | pathogenic |
| rs141463450 | 21:46,624,623 | C/G | — | likely benign |
| rs2838815 | 21:46,629,590 | C/T | intron variant | — |
| rs2518287411 | 21:46,640,772 | G/A | — | pathogenic |
| rs1010081989 | 21:46,640,825 | G/A | — | uncertain significance |
| rs781377959 | 21:46,640,828 | A/G | — | uncertain significance |
| rs775065806 | 21:46,640,871 | G/A | — | uncertain significance |
| rs1051367 | 21:46,641,968 | G/A | — | benign |
| rs766499353 | 21:46,641,975 | G/A | — | likely benign |
| rs201552994 | 21:46,641,993 | C/G | — | uncertain significance |
| rs1344272743 | 21:46,641,999 | G/T | — | benign |
| rs773802034 | 21:46,642,027 | G/A | — | uncertain significance |
| rs1323703791 | 21:46,642,051 | C/T | — | pathogenic |
| rs9983291 | 21:46,642,097 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.