CYP26B1
cytochrome P450 family 26 subfamily B member 1
Summary
This gene encodes a member of the cytochrome P450 superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein is localized to the endoplasmic reticulum, and functions as a critical regulator of all-trans retinoic acid levels by the specific inactivation of all-trans retinoic acid to hydroxylated forms. Mutations in this gene are associated with radiohumeral fusions and other skeletal and craniofacial anomalies, and increased levels of the encoded protein are associated with atherosclerotic lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
Known Variants117 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs887844 | 2:72,356,195 | A/T | — | — |
| rs3768647 | 2:72,357,455 | G/A | — | — |
| rs2241059 | 2:72,359,312 | A/G | — | benign |
| rs754415899 | 2:72,359,367 | C/T | — | uncertain significance |
| rs202200784 | 2:72,359,386 | C/A | — | uncertain significance |
| rs375261360 | 2:72,359,390 | G/A | — | uncertain significance |
| rs142056257 | 2:72,359,400 | C/T | — | likely benign |
| rs778297204 | 2:72,359,443 | A/C | — | uncertain significance |
| rs79138418 | 2:72,359,448 | C/T | — | likely benign |
| rs781553628 | 2:72,359,452 | G/T | — | uncertain significance |
| rs148075682 | 2:72,359,460 | C/T | — | uncertain significance |
| rs368475843 | 2:72,359,477 | C/A | — | uncertain significance |
| rs61751056 | 2:72,359,478 | G/T | — | conflicting classifications of pathogenicity |
| rs146011965 | 2:72,359,481 | G/A | — | conflicting classifications of pathogenicity |
| rs764995614 | 2:72,359,482 | G/C | — | uncertain significance |
| rs2466203566 | 2:72,359,500 | C/T | — | likely benign |
| rs12478279 | 2:72,359,518 | G/A | — | benign |
| rs142523471 | 2:72,359,531 | G/A | — | uncertain significance |
| rs769295445 | 2:72,359,538 | C/T | — | uncertain significance |
| rs1676614895 | 2:72,359,562 | G/A | — | uncertain significance |
| rs2466204285 | 2:72,359,571 | G/A | — | likely benign |
| rs146777162 | 2:72,359,593 | G/A | — | likely benign |
| rs374896022 | 2:72,359,605 | A/G | — | likely benign |
| rs779129723 | 2:72,359,622 | T/C | — | uncertain significance |
| rs571722272 | 2:72,359,634 | G/A | — | uncertain significance |
| rs7568553 | 2:72,359,636 | G/C | — | likely benign |
| rs1331887504 | 2:72,359,637 | C/T | — | uncertain significance |
| rs779832566 | 2:72,359,638 | C/T | — | likely benign |
| rs545107761 | 2:72,359,648 | C/T | — | uncertain significance |
| rs144952086 | 2:72,359,659 | G/A | — | likely benign |
| rs182029240 | 2:72,359,664 | C/T | — | uncertain significance |
| rs1309087026 | 2:72,359,687 | G/A | — | uncertain significance |
| rs756077143 | 2:72,359,705 | C/T | — | likely pathogenic |
| rs1341772264 | 2:72,359,716 | C/A | — | uncertain significance |
| rs113873901 | 2:72,359,760 | T/C | — | likely benign |
| rs148355553 | 2:72,359,768 | G/A | — | likely benign |
| rs374316030 | 2:72,359,867 | C/T | — | likely benign |
| rs2286965 | 2:72,360,160 | C/T | — | benign |
| rs188235033 | 2:72,360,161 | G/A | — | likely benign |
| rs775903624 | 2:72,360,164 | G/C | — | likely benign |
| rs139076534 | 2:72,360,188 | G/A | — | benign |
| rs2286964 | 2:72,360,200 | C/T | — | benign |
| rs281875231 | 2:72,360,210 | C/T | missense variant | pathogenic |
| rs200556766 | 2:72,360,258 | G/A | — | uncertain significance |
| rs542224246 | 2:72,360,259 | T/C | — | uncertain significance |
| rs144968323 | 2:72,360,268 | G/A | — | likely benign |
| rs368459555 | 2:72,360,280 | C/T | — | uncertain significance |
| rs775239122 | 2:72,360,281 | G/A | — | likely benign |
| rs148988710 | 2:72,360,293 | G/A | — | likely benign |
| rs151067513 | 2:72,360,308 | G/A | — | likely benign |
| rs534997827 | 2:72,360,330 | C/T | — | uncertain significance |
| rs138478634 | 2:72,360,331 | G/A | — | benign |
| rs142396068 | 2:72,360,347 | A/G | — | benign |
| rs372023972 | 2:72,360,356 | C/T | — | benign |
| rs1265502262 | 2:72,360,388 | C/T | — | uncertain significance |
| rs149302873 | 2:72,360,389 | G/A | — | likely benign |
| rs145935579 | 2:72,360,395 | C/T | — | likely benign |
| rs1676654278 | 2:72,360,432 | C/T | — | uncertain significance |
| rs774385232 | 2:72,360,441 | A/C | — | likely benign |
| rs138519959 | 2:72,360,541 | C/A | — | likely benign |
| rs148457832 | 2:72,360,620 | G/A | — | likely benign |
| rs3768643 | 2:72,361,699 | A/G | — | likely benign |
| rs2241058 | 2:72,361,865 | A/C | — | benign |
| rs35846306 | 2:72,361,920 | G/A | — | benign |
| rs2466215969 | 2:72,361,927 | T/C | — | uncertain significance |
| rs1676711803 | 2:72,361,945 | A/T | — | uncertain significance |
| rs2241057 | 2:72,361,960 | A/G | missense variant | benign |
| rs934693080 | 2:72,361,964 | A/G | — | uncertain significance |
| rs754021915 | 2:72,362,032 | C/T | — | uncertain significance |
| rs112913461 | 2:72,362,266 | T/C | — | likely benign |
| rs267599444 | 2:72,362,274 | C/T | — | uncertain significance |
| rs145298160 | 2:72,362,291 | G/A | — | likely benign |
| rs143738797 | 2:72,362,299 | C/T | — | uncertain significance |
| rs534646511 | 2:72,362,300 | G/A | — | likely benign |
| rs1441876570 | 2:72,362,350 | G/C | — | uncertain significance |
| rs185325941 | 2:72,362,380 | A/G | — | uncertain significance |
| rs755847410 | 2:72,362,383 | C/T | — | uncertain significance |
| rs748938965 | 2:72,362,394 | C/T | — | uncertain significance |
| rs76025186 | 2:72,362,406 | C/T | — | conflicting classifications of pathogenicity |
| rs1447524545 | 2:72,362,421 | T/C | — | uncertain significance |
| rs369577250 | 2:72,362,423 | C/T | — | benign |
| rs142707455 | 2:72,362,429 | C/G | — | uncertain significance |
| rs1407577896 | 2:72,362,431 | G/C | — | uncertain significance |
| rs142999899 | 2:72,362,437 | C/T | — | uncertain significance |
| rs139916221 | 2:72,362,438 | G/A | — | likely benign |
| rs201603348 | 2:72,362,439 | T/C | — | uncertain significance |
| rs201533354 | 2:72,362,449 | C/T | — | likely benign |
| rs143775993 | 2:72,362,450 | G/A | — | likely benign |
| rs775519717 | 2:72,362,474 | T/C | — | likely benign |
| rs1160154460 | 2:72,362,518 | G/C | — | uncertain significance |
| rs143622603 | 2:72,362,524 | C/T | — | conflicting classifications of pathogenicity |
| rs281875232 | 2:72,362,542 | A/G | missense variant | pathogenic |
| rs115700677 | 2:72,362,658 | A/C | — | likely benign |
| rs570357444 | 2:72,362,735 | G/A | — | likely benign |
| rs115703254 | 2:72,370,971 | G/A | — | likely benign |
| rs779059419 | 2:72,371,119 | T/C | — | uncertain significance |
| rs772070692 | 2:72,371,127 | G/A | — | likely benign |
| rs1281765906 | 2:72,371,203 | G/A | — | uncertain significance |
| rs2104095041 | 2:72,371,226 | C/T | — | uncertain significance |
| rs1205296508 | 2:72,371,262 | G/T | — | likely benign |
Showing 100 of 117 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.