AR
androgen receptor
Summary
The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract from the normal 9-34 repeats to the pathogenic 38-62 repeats causes spinal bulbar muscular atrophy (SBMA, also known as Kennedy's disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017]
Known Variants644 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1022210006 | X:66,764,076 | C/A | — | likely benign |
| rs1929617885 | X:66,764,446 | C/A | — | likely benign |
| rs2147313671 | X:66,764,989 | A/T | — | pathogenic |
| rs104894742 | X:66,764,992 | G/A | missense variant | pathogenic |
| rs1929637005 | X:66,764,993 | A/G | — | uncertain significance |
| rs778912582 | X:66,764,995 | G/A | — | conflicting classifications of pathogenicity |
| rs773509448 | X:66,765,027 | G/A | — | benign |
| rs144502467 | X:66,765,033 | G/T | — | likely benign |
| rs370971743 | X:66,765,039 | G/T | — | likely benign |
| rs530034797 | X:66,765,075 | C/T | — | likely benign |
| rs995307851 | X:66,765,089 | T/A | — | uncertain significance |
| rs147842041 | X:66,765,107 | G/A | — | likely benign |
| rs2147314339 | X:66,765,115 | G/C | — | uncertain significance |
| rs139767835 | X:66,765,122 | C/G | — | likely benign |
| rs748132141 | X:66,765,138 | C/T | — | likely benign |
| rs78686797 | X:66,765,158 | T/A | — | likely benign |
| rs200185441 | X:66,765,161 | A/T | — | conflicting classifications of pathogenicity |
| rs1929657778 | X:66,765,163 | C/T | — | pathogenic |
| rs137852575 | X:66,765,166 | C/T | stop gained | pathogenic |
| rs868302830 | X:66,765,167 | A/T | — | conflicting classifications of pathogenicity |
| rs869320731 | X:66,765,168 | — | — | pathogenic |
| rs2147314874 | X:66,765,175 | C/T | — | pathogenic |
| rs62636527 | X:66,765,176 | A/T | — | uncertain significance |
| rs1302894198 | X:66,765,178 | C/T | — | pathogenic |
| rs1239669168 | X:66,765,179 | A/T | — | uncertain significance |
| rs1602143327 | X:66,765,182 | A/T | — | uncertain significance |
| rs2519600650 | X:66,765,189 | G/A | — | likely benign |
| rs1929664860 | X:66,765,190 | C/T | — | pathogenic |
| rs1281274698 | X:66,765,196 | C/T | — | pathogenic |
| rs1555969512 | X:66,765,202 | C/T | — | pathogenic |
| rs1199988820 | X:66,765,205 | C/T | — | pathogenic |
| rs886041129 | X:66,765,208 | C/T | stop gained | pathogenic |
| rs2519600787 | X:66,765,210 | G/A | — | likely benign |
| rs1277515752 | X:66,765,212 | A/G | — | uncertain significance |
| rs1555969528 | X:66,765,217 | C/T | — | pathogenic |
| rs2519600861 | X:66,765,222 | G/A | — | likely benign |
| rs867607173 | X:66,765,228 | A/G | — | likely benign |
| rs2147315233 | X:66,765,234 | T/C | — | likely benign |
| rs62636529 | X:66,765,249 | G/A | — | likely benign |
| rs1555969545 | X:66,765,256 | C/T | — | pathogenic |
| rs759401811 | X:66,765,258 | G/T | — | conflicting classifications of pathogenicity |
| rs112374098 | X:66,765,259 | C/T | — | pathogenic |
| rs2147315373 | X:66,765,261 | G/A | — | likely benign |
| rs2147315396 | X:66,765,265 | G/A | — | uncertain significance |
| rs1007084818 | X:66,765,268 | G/T | — | uncertain significance |
| rs1329298379 | X:66,765,277 | C/T | — | benign |
| rs777886419 | X:66,765,279 | C/T | — | likely benign |
| rs1555969553 | X:66,765,280 | C/T | — | pathogenic |
| rs751756072 | X:66,765,288 | T/C | — | likely benign |
| rs777689173 | X:66,765,290 | G/A | — | benign |
| rs2519601426 | X:66,765,292 | A/T | — | pathogenic |
| rs746181830 | X:66,765,300 | C/G | — | likely benign |
| rs1481151440 | X:66,765,309 | C/A | — | pathogenic |
| rs147677446 | X:66,765,312 | G/C | — | likely benign |
| rs375624067 | X:66,765,321 | T/C | — | likely benign |
| rs2147315951 | X:66,765,345 | G/A | — | likely benign |
| rs1929683441 | X:66,765,346 | C/T | — | pathogenic |
| rs2147315975 | X:66,765,348 | G/A | — | likely benign |
| rs1166302303 | X:66,765,351 | G/A | — | likely benign |
| rs1031938966 | X:66,765,369 | C/G | — | likely benign |
| rs2147316123 | X:66,765,372 | G/A | — | likely benign |
| rs1131691761 | X:66,765,381 | C/A | — | pathogenic |
| rs2147316183 | X:66,765,384 | C/T | — | likely benign |
| rs776441367 | X:66,765,402 | C/T | — | likely benign |
| rs1255492564 | X:66,765,408 | C/G | — | likely benign |
| rs865948546 | X:66,765,409 | G/A | — | likely benign |
| rs765142941 | X:66,765,446 | C/T | — | conflicting classifications of pathogenicity |
| rs752559194 | X:66,765,447 | G/A | — | likely benign |
| rs140987594 | X:66,765,450 | C/G | — | uncertain significance |
| rs764126853 | X:66,765,451 | G/T | — | pathogenic |
| rs370215797 | X:66,765,463 | G/A | — | conflicting classifications of pathogenicity |
| rs2147316737 | X:66,765,481 | T/A | — | uncertain significance |
| rs1275547443 | X:66,765,484 | C/T | — | likely benign |
| rs2519603362 | X:66,765,498 | T/C | — | likely benign |
| rs750725361 | X:66,765,507 | C/G | — | benign |
| rs137852590 | X:66,765,509 | T/G | stop gained | pathogenic |
| rs777131133 | X:66,765,516 | C/A | — | likely benign |
| rs913533972 | X:66,765,522 | C/T | — | likely benign |
| rs770236437 | X:66,765,547 | G/T | — | pathogenic |
| rs779587405 | X:66,765,581 | A/T | — | likely benign |
| rs746464635 | X:66,765,585 | G/A | — | likely benign |
| rs2147317342 | X:66,765,594 | A/C | — | likely benign |
| rs776415088 | X:66,765,597 | C/G | — | likely benign |
| rs374549047 | X:66,765,609 | C/G | — | benign |
| rs775392428 | X:66,765,613 | G/C | — | uncertain significance |
| rs1929697655 | X:66,765,614 | G/A | — | benign |
| rs2147317491 | X:66,765,615 | G/T | — | likely benign |
| rs763968978 | X:66,765,619 | G/A | — | uncertain significance |
| rs761814592 | X:66,765,621 | G/C | — | likely benign |
| rs150226204 | X:66,765,624 | G/A | — | benign |
| rs199554641 | X:66,765,634 | G/C | — | likely benign |
| rs751027309 | X:66,765,642 | C/T | — | likely benign |
| rs1036966197 | X:66,765,655 | G/A | — | uncertain significance |
| rs748735673 | X:66,765,678 | G/C | — | likely benign |
| rs1929701757 | X:66,765,713 | C/T | — | uncertain significance |
| rs551440893 | X:66,765,720 | G/T | — | likely benign |
| rs1555969682 | X:66,765,731 | G/T | — | pathogenic |
| rs745476348 | X:66,765,735 | G/A | — | benign |
| rs2147318231 | X:66,765,742 | G/T | — | pathogenic |
| rs769445750 | X:66,765,746 | C/T | — | benign |
Showing 100 of 644 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.