PYGB
glycogen phosphorylase B
Summary
The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase. The activity of this enzyme is positively regulated by AMP and negatively regulated by ATP, ADP, and glucose-6-phosphate. This enzyme catalyzes the rate-determining step in glycogen degradation. [provided by RefSeq, Jul 2008]
Known Variants77 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs559881800 | 20:25,228,573 | G/A | — | — |
| rs376948415 | 20:25,228,824 | C/T | — | uncertain significance |
| rs2092876085 | 20:25,228,830 | A/C | — | uncertain significance |
| rs201023289 | 20:25,228,836 | A/T | — | uncertain significance |
| rs200154564 | 20:25,228,902 | A/C | — | uncertain significance |
| rs765782345 | 20:25,228,912 | A/G | — | uncertain significance |
| rs368166226 | 20:25,228,928 | C/A | — | uncertain significance |
| rs1269082189 | 20:25,228,945 | G/A | — | uncertain significance |
| rs146966138 | 20:25,228,984 | C/G | — | likely benign |
| rs201771509 | 20:25,228,988 | C/G | — | uncertain significance |
| rs2273473 | 20:25,229,231 | C/A | — | — |
| rs4813555 | 20:25,237,145 | C/A | — | — |
| rs1050535872 | 20:25,239,874 | G/A | — | uncertain significance |
| rs200651502 | 20:25,239,909 | C/T | — | uncertain significance |
| rs769655708 | 20:25,239,910 | G/A | — | uncertain significance |
| rs2281558 | 20:25,240,189 | G/C | — | — |
| rs11699953 | 20:25,241,345 | C/G | regulatory region variant | — |
| rs6138556 | 20:25,243,310 | C/A | — | — |
| rs6115118 | 20:25,246,734 | G/A | intron variant | — |
| rs773439527 | 20:25,252,028 | T/C | — | uncertain significance |
| rs199896643 | 20:25,252,036 | A/G | — | uncertain significance |
| rs753970590 | 20:25,252,048 | G/T | — | uncertain significance |
| rs199740965 | 20:25,252,067 | A/G | — | uncertain significance |
| rs35481467 | 20:25,255,239 | C/T | — | benign |
| rs2515710347 | 20:25,255,289 | A/G | — | uncertain significance |
| rs201689841 | 20:25,255,318 | G/T | — | uncertain significance |
| rs2254046 | 20:25,257,215 | G/A | intron variant | — |
| rs377097795 | 20:25,257,322 | A/G | — | uncertain significance |
| rs200036828 | 20:25,257,329 | C/G | — | uncertain significance |
| rs2088315341 | 20:25,257,367 | C/T | — | uncertain significance |
| rs371683304 | 20:25,257,900 | G/A | — | uncertain significance |
| rs149578335 | 20:25,257,915 | C/T | — | uncertain significance |
| rs528534058 | 20:25,259,085 | C/T | — | uncertain significance |
| rs752015464 | 20:25,261,025 | G/T | — | uncertain significance |
| rs767609032 | 20:25,261,038 | G/A | — | uncertain significance |
| rs201813153 | 20:25,261,588 | G/A | — | uncertain significance |
| rs35073849 | 20:25,261,590 | G/A | — | benign |
| rs771010540 | 20:25,261,618 | C/T | — | uncertain significance |
| rs776622403 | 20:25,261,619 | G/A | — | uncertain significance |
| rs199655911 | 20:25,261,645 | G/A | — | uncertain significance |
| rs199663379 | 20:25,261,660 | C/T | — | uncertain significance |
| rs779222213 | 20:25,262,719 | A/G | — | uncertain significance |
| rs2261790 | 20:25,262,789 | T/A | — | — |
| rs2515718595 | 20:25,263,840 | T/C | — | uncertain significance |
| rs139672965 | 20:25,266,900 | G/A | intron variant | — |
| rs753009 | 20:25,268,661 | C/T | intron variant | — |
| rs201995834 | 20:25,269,105 | A/C | — | uncertain significance |
| rs2258053 | 20:25,271,033 | C/A | — | — |
| rs1438151389 | 20:25,271,121 | C/T | — | uncertain significance |
| rs777242041 | 20:25,271,127 | G/A | — | uncertain significance |
| rs199553206 | 20:25,271,163 | C/A | — | uncertain significance |
| rs754135034 | 20:25,271,186 | C/T | — | uncertain significance |
| rs2515724875 | 20:25,271,212 | G/T | — | uncertain significance |
| rs377025742 | 20:25,271,243 | T/C | — | uncertain significance |
| rs143059247 | 20:25,273,049 | G/A | — | likely benign |
| rs201109691 | 20:25,273,053 | G/A | — | uncertain significance |
| rs772770448 | 20:25,273,087 | C/G | — | uncertain significance |
| rs763332957 | 20:25,273,104 | G/T | — | uncertain significance |
| rs201805961 | 20:25,273,119 | A/G | — | uncertain significance |
| rs770376445 | 20:25,273,158 | G/A | — | uncertain significance |
| rs760769798 | 20:25,273,185 | G/A | — | uncertain significance |
| rs201190363 | 20:25,273,191 | G/A | — | uncertain significance |
| rs139606197 | 20:25,273,245 | A/G | — | uncertain significance |
| rs1172491543 | 20:25,274,813 | T/C | — | uncertain significance |
| rs200213744 | 20:25,274,871 | C/T | — | uncertain significance |
| rs200921970 | 20:25,274,937 | G/A | — | benign |
| rs2515731996 | 20:25,276,251 | T/C | — | uncertain significance |
| rs201552182 | 20:25,276,272 | T/G | — | uncertain significance |
| rs2088530405 | 20:25,276,302 | A/G | — | uncertain significance |
| rs755933225 | 20:25,277,027 | A/G | — | uncertain significance |
| rs2515733774 | 20:25,277,051 | T/C | — | uncertain significance |
| rs1435688601 | 20:25,277,064 | C/T | — | uncertain significance |
| rs1464344437 | 20:25,277,073 | G/A | — | uncertain significance |
| rs562479236 | 20:25,277,111 | G/A | — | uncertain significance |
| rs201566117 | 20:25,277,139 | C/G | — | uncertain significance |
| rs200006792 | 20:25,277,151 | G/A | — | uncertain significance |
| rs774335478 | 20:25,277,153 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.