CHRNA2
cholinergic receptor nicotinic alpha 2 subunit
Summary
Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of alpha and beta subunits to create distinct muscle and neuronal receptors. Neuronal receptors are found throughout the peripheral and central nervous system where they are involved in fast synaptic transmission. This gene encodes an alpha subunit that is widely expressed in the brain. The proposed structure for nAChR subunits is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. Mutations in this gene cause autosomal dominant nocturnal frontal lobe epilepsy type 4. Single nucleotide polymorphisms (SNPs) in this gene have been associated with nicotine dependence. [provided by RefSeq, Nov 2009]
Known Variants617 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs570954015 | 8:27,317,264 | G/T | — | likely benign |
| rs146191907 | 8:27,317,273 | T/C | — | likely benign |
| rs531828656 | 8:27,317,297 | T/C | — | benign |
| rs377169301 | 8:27,317,301 | T/A | — | uncertain significance |
| rs2280375 | 8:27,317,337 | G/A | — | benign |
| rs773958762 | 8:27,317,371 | G/A | — | uncertain significance |
| rs1451704235 | 8:27,317,377 | G/C | — | uncertain significance |
| rs1040675339 | 8:27,317,394 | C/T | — | uncertain significance |
| rs533752912 | 8:27,317,439 | G/A | — | uncertain significance |
| rs1057137 | 8:27,317,445 | G/T | — | benign |
| rs996594019 | 8:27,317,458 | C/G | — | uncertain significance |
| rs577078556 | 8:27,317,479 | C/T | — | benign |
| rs535057169 | 8:27,317,543 | G/T | — | uncertain significance |
| rs113471592 | 8:27,317,666 | G/A | — | benign |
| rs28697263 | 8:27,317,700 | T/C | — | benign |
| rs376282591 | 8:27,317,743 | G/C | — | benign |
| rs886062841 | 8:27,317,751 | G/T | — | uncertain significance |
| rs564765220 | 8:27,317,754 | T/C | — | benign |
| rs2280376 | 8:27,317,762 | A/G | — | benign |
| rs973667975 | 8:27,317,881 | A/C | — | uncertain significance |
| rs1560344 | 8:27,317,987 | A/G | — | benign |
| rs7840761 | 8:27,318,029 | C/T | — | benign |
| rs886062842 | 8:27,318,050 | G/C | — | uncertain significance |
| rs906182736 | 8:27,318,056 | G/A | — | uncertain significance |
| rs145560154 | 8:27,318,140 | C/T | — | benign |
| rs74974243 | 8:27,318,143 | C/T | — | benign |
| rs539161001 | 8:27,318,149 | G/C | — | uncertain significance |
| rs112587531 | 8:27,318,210 | G/A | — | benign |
| rs886062843 | 8:27,318,254 | A/T | — | uncertain significance |
| rs572058986 | 8:27,318,375 | G/A | — | benign |
| rs2292974 | 8:27,318,391 | C/T | — | benign |
| rs2292975 | 8:27,318,425 | C/A | — | benign |
| rs1812461161 | 8:27,318,484 | A/G | — | uncertain significance |
| rs79796894 | 8:27,318,523 | C/T | — | benign |
| rs2292976 | 8:27,318,544 | A/G | — | benign |
| rs2292977 | 8:27,318,635 | G/C | — | benign |
| rs574004327 | 8:27,318,667 | C/G | — | uncertain significance |
| rs542172546 | 8:27,318,760 | C/A | — | uncertain significance |
| rs76428534 | 8:27,318,762 | C/T | — | benign |
| rs930285465 | 8:27,318,798 | G/A | — | uncertain significance |
| rs111565880 | 8:27,318,861 | C/G | — | likely benign |
| rs1267504386 | 8:27,318,950 | C/A | — | uncertain significance |
| rs1026564153 | 8:27,318,987 | C/T | — | uncertain significance |
| rs1395465476 | 8:27,319,013 | C/A | — | uncertain significance |
| rs147882344 | 8:27,319,038 | G/A | — | likely benign |
| rs186509115 | 8:27,319,117 | C/T | — | benign |
| rs760680104 | 8:27,319,138 | A/G | — | likely benign |
| rs1812490479 | 8:27,319,153 | A/G | — | uncertain significance |
| rs1040135347 | 8:27,319,161 | T/C | — | likely benign |
| rs199993564 | 8:27,319,167 | C/T | — | likely benign |
| rs145238683 | 8:27,319,168 | G/A | — | conflicting classifications of pathogenicity |
| rs752689106 | 8:27,319,179 | G/T | — | likely benign |
| rs1586386548 | 8:27,319,181 | G/A | — | uncertain significance |
| rs755631456 | 8:27,319,184 | C/T | — | conflicting classifications of pathogenicity |
| rs777412930 | 8:27,319,185 | G/A | — | likely benign |
| rs1563315936 | 8:27,319,192 | C/T | — | uncertain significance |
| rs1812493442 | 8:27,319,195 | A/T | — | uncertain significance |
| rs2490524234 | 8:27,319,197 | G/A | — | likely benign |
| rs1354748998 | 8:27,319,201 | C/A | — | uncertain significance |
| rs1216454301 | 8:27,319,202 | A/G | — | uncertain significance |
| rs2490524287 | 8:27,319,203 | G/C | — | likely benign |
| rs796052306 | 8:27,319,205 | C/G | — | uncertain significance |
| rs149142237 | 8:27,319,206 | G/A | — | conflicting classifications of pathogenicity |
| rs1812494361 | 8:27,319,207 | A/G | — | uncertain significance |
| rs528528743 | 8:27,319,208 | T/C | — | uncertain significance |
| rs2490524406 | 8:27,319,213 | A/G | — | uncertain significance |
| rs1012797739 | 8:27,319,220 | A/T | — | uncertain significance |
| rs2132646413 | 8:27,319,221 | G/A | — | likely benign |
| rs759930402 | 8:27,319,235 | C/T | — | uncertain significance |
| rs143223159 | 8:27,319,236 | G/A | — | likely benign |
| rs2490524810 | 8:27,319,253 | A/G | — | uncertain significance |
| rs375095234 | 8:27,319,254 | C/T | — | likely benign |
| rs762003141 | 8:27,319,255 | T/C | — | uncertain significance |
| rs374449470 | 8:27,319,258 | C/T | — | uncertain significance |
| rs1270908053 | 8:27,319,263 | C/T | — | likely benign |
| rs773515773 | 8:27,319,268 | T/C | — | conflicting classifications of pathogenicity |
| rs2490525019 | 8:27,319,271 | C/A | — | uncertain significance |
| rs1812498557 | 8:27,319,272 | C/T | — | uncertain significance |
| rs1279319311 | 8:27,319,273 | T/C | — | uncertain significance |
| rs375469296 | 8:27,319,274 | G/A | — | conflicting classifications of pathogenicity |
| rs1812498789 | 8:27,319,277 | G/T | — | likely benign |
| rs735421 | 8:27,319,292 | G/A | — | benign |
| rs202078247 | 8:27,319,316 | A/T | — | likely benign |
| rs116181978 | 8:27,319,561 | G/A | — | likely benign |
| rs115173507 | 8:27,319,570 | C/T | — | likely benign |
| rs71519636 | 8:27,320,236 | C/T | — | likely benign |
| rs377015162 | 8:27,320,476 | C/T | — | likely benign |
| rs1271677937 | 8:27,320,484 | A/G | — | likely benign |
| rs749942986 | 8:27,320,486 | C/G | — | likely benign |
| rs781333878 | 8:27,320,489 | A/C | — | likely benign |
| rs758065946 | 8:27,320,491 | C/A | — | uncertain significance |
| rs1586388485 | 8:27,320,492 | G/A | — | uncertain significance |
| rs796052305 | 8:27,320,496 | C/T | — | conflicting classifications of pathogenicity |
| rs866092045 | 8:27,320,497 | G/A | — | uncertain significance |
| rs994299183 | 8:27,320,500 | G/C | — | uncertain significance |
| rs755338508 | 8:27,320,513 | C/T | — | uncertain significance |
| rs2132650030 | 8:27,320,516 | A/G | — | uncertain significance |
| rs748709506 | 8:27,320,518 | C/A | — | uncertain significance |
| rs369803320 | 8:27,320,519 | G/A | — | conflicting classifications of pathogenicity |
| rs374849310 | 8:27,320,523 | G/C | — | uncertain significance |
Showing 100 of 617 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.