PRKAR1B
protein kinase cAMP-dependent type I regulatory subunit beta
Summary
The protein encoded by this gene is a regulatory subunit of cyclic AMP-dependent protein kinase A (PKA), which is involved in the signaling pathway of the second messenger cAMP. Two regulatory and two catalytic subunits form the PKA holoenzyme, disbands after cAMP binding. The holoenzyme is involved in many cellular events, including ion transport, metabolism, and transcription. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2015]
Known Variants83 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2128416443 | 7:590,071 | A/C | — | uncertain significance |
| rs2483475627 | 7:590,084 | T/C | — | uncertain significance |
| rs752059939 | 7:590,118 | G/T | — | likely benign |
| rs28488947 | 7:590,148 | G/A | — | benign |
| rs149291819 | 7:590,196 | G/A | — | benign |
| rs374626599 | 7:590,198 | C/T | — | uncertain significance |
| rs11545042 | 7:590,199 | A/G | — | benign |
| rs370829885 | 7:590,205 | C/T | — | benign |
| rs758240013 | 7:590,209 | C/T | — | uncertain significance |
| rs1475000361 | 7:590,210 | G/A | — | pathogenic |
| rs77270969 | 7:590,215 | C/T | — | likely benign |
| rs28626752 | 7:590,229 | T/C | — | benign |
| rs1784120104 | 7:590,244 | G/C | — | uncertain significance |
| rs28585978 | 7:590,247 | T/G | — | benign |
| rs144566354 | 7:591,027 | G/A | — | likely benign |
| rs1784184342 | 7:591,056 | C/T | — | uncertain significance |
| rs148058026 | 7:591,062 | C/T | — | uncertain significance |
| rs144431535 | 7:591,063 | G/A | — | benign |
| rs147220037 | 7:591,066 | C/T | — | likely benign |
| rs866622752 | 7:591,082 | C/T | — | likely pathogenic |
| rs748743633 | 7:591,085 | C/T | — | uncertain significance |
| rs375954492 | 7:591,086 | G/A | — | uncertain significance |
| rs78260651 | 7:591,096 | G/A | — | likely benign |
| rs76036113 | 7:591,102 | G/A | — | benign |
| rs2483483835 | 7:591,104 | T/C | — | uncertain significance |
| rs71518309 | 7:591,125 | G/C | — | benign |
| rs111512054 | 7:617,053 | G/A | intron variant | — |
| rs757655424 | 7:618,886 | G/A | — | likely benign |
| rs3211362 | 7:618,938 | A/G | — | benign |
| rs1014983486 | 7:618,940 | T/C | — | uncertain significance |
| rs199622718 | 7:618,965 | G/A | — | likely benign |
| rs77809618 | 7:618,974 | C/T | — | likely benign |
| rs1317364396 | 7:618,975 | G/A | — | uncertain significance |
| rs1780050610 | 7:618,976 | C/T | — | uncertain significance |
| rs1228480924 | 7:618,994 | G/A | — | uncertain significance |
| rs2483151753 | 7:624,186 | C/T | — | uncertain significance |
| rs186825036 | 7:624,211 | C/T | — | benign |
| rs9330368 | 7:624,221 | T/G | — | benign |
| rs13240563 | 7:626,461 | G/T | — | — |
| rs147247048 | 7:632,002 | C/T | regulatory region variant | — |
| rs28402081 | 7:633,179 | G/C | — | — |
| rs74939612 | 7:635,777 | A/G | — | likely benign |
| rs764447261 | 7:635,824 | G/C | — | uncertain significance |
| rs79302454 | 7:635,834 | C/T | — | benign |
| rs76061469 | 7:635,849 | G/A | — | likely benign |
| rs1340953562 | 7:635,869 | C/T | — | uncertain significance |
| rs76344857 | 7:635,905 | C/T | — | conflicting classifications of pathogenicity |
| rs2483243726 | 7:635,921 | C/T | — | likely pathogenic |
| rs369261319 | 7:635,935 | C/A | — | uncertain significance |
| rs145653328 | 7:645,842 | T/C | — | uncertain significance |
| rs201266818 | 7:645,851 | G/A | — | likely benign |
| rs1409807831 | 7:645,857 | G/T | — | uncertain significance |
| rs772049509 | 7:647,052 | C/T | — | uncertain significance |
| rs28500790 | 7:651,147 | C/A | — | — |
| rs140891924 | 7:664,004 | G/A | intron variant | — |
| rs71518327 | 7:664,819 | C/A | — | — |
| rs149399506 | 7:665,556 | A/G | — | — |
| rs10233836 | 7:669,692 | A/G | intron variant | — |
| rs9771385 | 7:672,509 | G/T | — | — |
| rs75444260 | 7:675,581 | A/G | regulatory region variant | — |
| rs185641179 | 7:716,891 | C/A | — | likely benign |
| rs192066279 | 7:720,202 | G/A | — | likely benign |
| rs757483222 | 7:720,246 | C/T | — | uncertain significance |
| rs2128507554 | 7:720,267 | T/C | — | uncertain significance |
| rs200458521 | 7:720,274 | A/C | — | likely benign |
| rs545804273 | 7:720,280 | C/G | — | likely benign |
| rs199799634 | 7:720,282 | G/C | — | uncertain significance |
| rs199568828 | 7:720,283 | G/T | — | benign |
| rs770020244 | 7:720,287 | G/C | — | uncertain significance |
| rs200749428 | 7:720,290 | G/A | — | uncertain significance |
| rs201442077 | 7:720,326 | T/C | — | uncertain significance |
| rs1299082047 | 7:720,355 | G/A | — | likely benign |
| rs1308812960 | 7:720,360 | C/T | — | uncertain significance |
| rs116198569 | 7:720,366 | G/A | — | benign |
| rs770164934 | 7:750,981 | G/C | — | uncertain significance |
| rs1057519490 | 7:750,994 | A/C | — | uncertain significance |
| rs61732492 | 7:751,025 | T/C | — | benign |
| rs530392908 | 7:751,042 | C/A | — | uncertain significance |
| rs756232064 | 7:751,067 | C/T | — | uncertain significance |
| rs140735639 | 7:751,080 | G/A | — | likely benign |
| rs1457441061 | 7:751,090 | C/T | — | uncertain significance |
| rs1433753191 | 7:751,142 | T/C | — | uncertain significance |
| rs115359679 | 7:755,987 | C/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.