PCCB
propionyl-CoA carboxylase subunit beta
Summary
The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
Known Variants836 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3755636 | 3:135,968,828 | C/G | — | benign |
| rs114666363 | 3:135,969,063 | C/T | — | likely benign |
| rs16843806 | 3:135,969,078 | C/G | — | likely benign |
| rs751837162 | 3:135,969,172 | A/T | — | uncertain significance |
| rs145734157 | 3:135,969,181 | C/T | — | likely benign |
| rs886058016 | 3:135,969,183 | G/A | — | uncertain significance |
| rs372649775 | 3:135,969,184 | G/A | — | uncertain significance |
| rs1553773141 | 3:135,969,206 | G/A | — | likely benign |
| rs398123462 | 3:135,969,219 | T/A | missense variant | pathogenic |
| rs398123464 | 3:135,969,220 | G/A | missense variant | pathogenic |
| rs748003396 | 3:135,969,222 | C/A | — | uncertain significance |
| rs769835356 | 3:135,969,223 | G/A | — | likely benign |
| rs373685372 | 3:135,969,225 | C/T | — | uncertain significance |
| rs763025114 | 3:135,969,226 | G/C | — | likely benign |
| rs1476876445 | 3:135,969,229 | A/G | — | likely benign |
| rs1559991921 | 3:135,969,230 | T/C | — | likely benign |
| rs1292452485 | 3:135,969,231 | T/G | — | pathogenic |
| rs377681768 | 3:135,969,233 | C/T | — | uncertain significance |
| rs767965814 | 3:135,969,234 | G/T | — | uncertain significance |
| rs2108127702 | 3:135,969,235 | G/C | — | likely benign |
| rs1306052988 | 3:135,969,236 | G/T | — | uncertain significance |
| rs1404763021 | 3:135,969,238 | G/A | — | likely benign |
| rs764602019 | 3:135,969,240 | C/T | — | uncertain significance |
| rs1057523611 | 3:135,969,241 | G/T | — | likely benign |
| rs1402404407 | 3:135,969,244 | G/A | — | likely benign |
| rs754303318 | 3:135,969,247 | C/A | — | likely benign |
| rs757860152 | 3:135,969,248 | G/C | — | uncertain significance |
| rs1230563587 | 3:135,969,251 | G/A | — | uncertain significance |
| rs1257439275 | 3:135,969,252 | C/A | — | uncertain significance |
| rs1941477030 | 3:135,969,255 | G/A | — | uncertain significance |
| rs751189567 | 3:135,969,256 | G/A | — | likely benign |
| rs1215705998 | 3:135,969,257 | C/T | — | uncertain significance |
| rs2108127783 | 3:135,969,259 | C/T | — | likely benign |
| rs754664563 | 3:135,969,262 | C/T | — | conflicting classifications of pathogenicity |
| rs780842004 | 3:135,969,263 | G/T | — | uncertain significance |
| rs1576397531 | 3:135,969,265 | T/C | — | likely benign |
| rs200185747 | 3:135,969,266 | C/A | — | conflicting classifications of pathogenicity |
| rs1262464904 | 3:135,969,268 | G/A | — | likely benign |
| rs769481450 | 3:135,969,270 | C/G | — | uncertain significance |
| rs1343618692 | 3:135,969,271 | G/A | — | likely benign |
| rs1196995378 | 3:135,969,274 | C/T | — | likely benign |
| rs777726717 | 3:135,969,275 | G/A | — | uncertain significance |
| rs1941478618 | 3:135,969,280 | C/G | — | likely benign |
| rs771117263 | 3:135,969,281 | C/T | — | uncertain significance |
| rs759836996 | 3:135,969,283 | C/G | — | likely benign |
| rs772483250 | 3:135,969,284 | G/A | — | uncertain significance |
| rs2529731469 | 3:135,969,285 | C/T | — | uncertain significance |
| rs559320564 | 3:135,969,286 | C/T | — | likely benign |
| rs1389353704 | 3:135,969,289 | G/T | — | likely benign |
| rs968929973 | 3:135,969,290 | G/A | — | uncertain significance |
| rs761030422 | 3:135,969,292 | C/T | — | likely benign |
| rs2529731550 | 3:135,969,295 | C/A | — | likely benign |
| rs141137691 | 3:135,969,299 | C/G | — | uncertain significance |
| rs765843410 | 3:135,969,303 | G/T | — | uncertain significance |
| rs2529731623 | 3:135,969,305 | A/G | — | uncertain significance |
| rs751136139 | 3:135,969,311 | G/A | — | uncertain significance |
| rs2108127907 | 3:135,969,312 | C/T | — | uncertain significance |
| rs2108127912 | 3:135,969,313 | C/T | — | likely benign |
| rs1941480501 | 3:135,969,316 | C/G | — | likely benign |
| rs1217204517 | 3:135,969,319 | T/C | — | likely benign |
| rs1941480759 | 3:135,969,323 | A/C | — | uncertain significance |
| rs1208205672 | 3:135,969,332 | A/G | — | uncertain significance |
| rs182412270 | 3:135,969,333 | T/C | — | uncertain significance |
| rs755889266 | 3:135,969,336 | A/G | — | uncertain significance |
| rs1031941989 | 3:135,969,344 | C/T | — | uncertain significance |
| rs1941481863 | 3:135,969,345 | G/A | — | uncertain significance |
| rs1941481939 | 3:135,969,346 | C/T | — | likely benign |
| rs749210374 | 3:135,969,347 | C/T | — | uncertain significance |
| rs375014273 | 3:135,969,348 | G/A | — | uncertain significance |
| rs959163694 | 3:135,969,349 | G/T | — | likely benign |
| rs1294710898 | 3:135,969,351 | C/G | — | uncertain significance |
| rs1576397628 | 3:135,969,352 | C/A | — | likely benign |
| rs145075817 | 3:135,969,355 | G/C | — | likely benign |
| rs199935380 | 3:135,969,356 | C/G | — | uncertain significance |
| rs916083200 | 3:135,969,357 | T/G | — | uncertain significance |
| rs1378807952 | 3:135,969,358 | G/A | — | likely benign |
| rs376983709 | 3:135,969,359 | C/T | — | likely benign |
| rs1368586445 | 3:135,969,360 | T/G | — | uncertain significance |
| rs1462411928 | 3:135,969,361 | G/C | — | likely benign |
| rs2108128043 | 3:135,969,367 | G/C | — | likely benign |
| rs747214250 | 3:135,969,368 | G/A | — | uncertain significance |
| rs1198214990 | 3:135,969,375 | G/A | — | uncertain significance |
| rs776900764 | 3:135,969,376 | C/T | — | likely benign |
| rs1328595594 | 3:135,969,378 | G/A | — | uncertain significance |
| rs561539546 | 3:135,969,380 | A/G | — | uncertain significance |
| rs765790211 | 3:135,969,381 | T/C | — | uncertain significance |
| rs773714443 | 3:135,969,382 | T/C | — | likely benign |
| rs1941484536 | 3:135,969,383 | G/T | — | uncertain significance |
| rs1422527852 | 3:135,969,384 | A/G | — | uncertain significance |
| rs759008477 | 3:135,969,385 | C/T | — | likely benign |
| rs371406048 | 3:135,969,386 | G/A | — | uncertain significance |
| rs200636968 | 3:135,969,387 | C/T | — | uncertain significance |
| rs1168077273 | 3:135,969,388 | G/T | — | likely benign |
| rs763949276 | 3:135,969,390 | A/C | — | likely pathogenic |
| rs1576397701 | 3:135,969,391 | G/A | — | likely benign |
| rs147954363 | 3:135,969,392 | C/A | — | likely pathogenic |
| rs757134877 | 3:135,969,394 | C/G | — | conflicting classifications of pathogenicity |
| rs140636870 | 3:135,969,397 | G/A | — | conflicting classifications of pathogenicity |
| rs909550005 | 3:135,969,399 | G/A | — | uncertain significance |
| rs398123460 | 3:135,969,401 | G/A | — | pathogenic |
Showing 100 of 836 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.