CYP2D6
cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene)
Summary
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 25% of commonly prescribed drugs. Its substrates include antidepressants, antipsychotics, analgesics and antitussives, beta adrenergic blocking agents, antiarrythmics and antiemetics. The gene is highly polymorphic in the human population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme's substrates. Some individuals with the poor metabolizer phenotype have no functional protein since they carry 2 null alleles whereas in other individuals the gene is absent. This gene can vary in copy number and individuals with the ultrarapid metabolizer phenotype can have 3 or more active copies of the gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Known Variants454 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs568495591 | 22:42,126,605 | G/A | missense variant | — |
| rs766507177 | 22:42,126,635 | T/G | missense variant | — |
| rs765776661 | 22:42,126,656 | C/CCAGTGGGCA | inframe insertion | — |
| rs760940331 | 22:42,126,715 | C/T | missense variant | — |
| rs369177208 | 22:42,126,719 | C/T | missense variant | — |
| rs751092905 | 22:42,126,735 | C/T | missense variant | — |
| rs532668079 | 22:42,126,746 | C/T | missense variant | — |
| rs569439709 | 22:42,126,752 | C/T | missense variant | — |
| rs763964554 | 22:42,126,896 | G/A | stop gained | — |
| rs747089665 | 22:42,126,926 | G/A | missense variant | — |
| rs769157652 | 22:42,126,938 | C/T | missense variant | — |
| rs267608285 | 22:42,126,956 | T/G | missense variant | — |
| rs1602566413 | 22:42,126,962 | C/G | missense variant | — |
| rs267608322 | 22:42,127,182 | C/A | intron variant | — |
| rs267608293 | 22:42,127,514 | A/G | missense variant | — |
| rs1555888910 | 22:42,127,523 | A/G | missense variant | — |
| rs72549346 | 22:42,127,530 | G/GAC | frameshift variant | — |
| rs202102799 | 22:42,127,556 | T/C | missense variant | likely benign |
| rs147960066 | 22:42,127,590 | G/A | stop gained | — |
| rs267608295 | 22:42,127,593 | G/C | missense variant | — |
| rs141824015 | 22:42,127,605 | T/G | missense variant | — |
| rs748712690 | 22:42,127,610 | T/C | missense variant | — |
| rs141009491 | 22:42,127,631 | C/G | missense variant | — |
| rs1406719554 | 22:42,127,922 | A/G | missense variant | — |
| rs267608279 | 22:42,127,962 | TG/T | frameshift variant | — |
| rs201830078 | 22:42,128,181 | A/T | missense variant | — |
| rs72549351 | 22:42,128,198 | CTCAG/C | frameshift variant | — |
| rs368858603 | 22:42,128,200 | C/CA | stop gained | — |
| rs72549352 | 22:42,128,211 | C/CG | frameshift variant | — |
| rs367543000 | 22:42,128,212 | G/A | stop gained | — |
| rs148769737 | 22:42,128,217 | G/T | missense variant | — |
| rs267608297 | 22:42,128,235 | G/A | missense variant | — |
| rs758320086 | 22:42,128,248 | CAGTT/C | frameshift variant | — |
| rs72549353 | 22:42,128,250 | GTTAG/G | frameshift variant | — |
| rs777691989 | 22:42,128,324 | CAGG/C | unknown | — |
| rs373813287 | 22:42,128,329 | G/A | missense variant | uncertain significance |
| rs140900383 | 22:42,128,340 | G/A | missense variant | — |
| rs377725912 | 22:42,128,351 | C/T | splice acceptor variant | — |
| rs58440431 | 22:42,128,694 | T/C | intron variant | — |
| rs567606867 | 22:42,128,807 | C/T | missense variant | — |
| rs199535154 | 22:42,128,812 | A/G | missense variant | — |
| rs150163869 | 22:42,128,813 | G/A | synonymous variant | — |
| rs72549354 | 22:42,128,814 | T/TC | frameshift variant | — |
| rs763609904 | 22:42,128,818 | T/TC | unknown | — |
| rs745365204 | 22:42,128,848 | C/T | missense variant | — |
| rs755518310 | 22:42,128,864 | C/T | missense variant | — |
| rs1459127426 | 22:42,128,926 | T/C | missense variant | — |
| rs553846709 | 22:42,128,927 | T/TGGGGCGAAA | inframe insertion | — |
| rs556882139 | 22:42,128,932 | C/T | missense variant | — |
| rs201006451 | 22:42,129,044 | G/A | intron variant | — |
| rs774943042 | 22:42,129,056 | C/G | missense variant | — |
| rs267608302 | 22:42,129,071 | T/A | missense variant | — |
| rs569229126 | 22:42,129,098 | T/C | missense variant | — |
| rs375135093 | 22:42,129,113 | A/G | missense variant | drug response |
| rs781457579 | 22:42,129,134 | G/A | missense variant | — |
| rs376636053 | 22:42,129,156 | A/G | intron variant | — |
| rs766391487 | 22:42,129,166 | A/C | intron variant | — |
| rs374616348 | 22:42,129,183 | C/T | missense variant | — |
| rs535642512 | 22:42,129,759 | C/T | missense variant | — |
| rs267608308 | 22:42,129,780 | C/T | missense variant | — |
| rs267608309 | 22:42,129,821 | G/A | missense variant | — |
| rs267608276 | 22:42,129,827 | C/G | missense variant | — |
| rs267608310 | 22:42,129,836 | G/A | missense variant | — |
| rs201377835 | 22:42,129,910 | C/G | splice acceptor variant | likely benign |
| rs536109057 | 22:42,130,638 | G/A | stop gained | — |
| rs774671100 | 22:42,130,654 | C/CA | frameshift variant | — |
| rs118203758 | 22:42,130,667 | C/T | missense variant | — |
| rs373243894 | 22:42,130,670 | G/A | missense variant | — |
| rs138100349 | 22:42,130,710 | G/A | missense variant | — |
| rs267608313 | 22:42,130,719 | G/A | missense variant | — |
| rs773790593 | 22:42,130,778 | G/A | missense variant | — |
| rs4078248 | 22:42,522,027 | C/T | downstream gene variant | — |
| rs79347391 | 22:42,522,028 | G/C | — | — |
| rs35028622 | 22:42,522,074 | C/G | — | — |
| rs77827855 | 22:42,522,079 | G/A | downstream gene variant | — |
| rs4078249 | 22:42,522,084 | C/A | — | — |
| rs1602563541 | 22:42,522,148 | C/T | — | drug response |
| rs1252450087 | 22:42,522,198 | T/C | — | drug response |
| rs1602563653 | 22:42,522,213 | T/C | — | drug response |
| rs1602563686 | 22:42,522,235 | A/G | — | drug response |
| rs1602563722 | 22:42,522,244 | T/A | — | drug response |
| rs1602563763 | 22:42,522,255 | T/C | — | drug response |
| rs12169962 | 22:42,522,312 | T/C | downstream gene variant | — |
| rs1602563935 | 22:42,522,338 | A/G | — | drug response |
| rs28371738 | 22:42,522,392 | G/A | downstream gene variant | drug response |
| rs1602564163 | 22:42,522,427 | A/T | — | drug response |
| rs28371737 | 22:42,522,464 | G/A | — | drug response |
| rs1602564412 | 22:42,522,534 | A/G | — | drug response |
| rs1602564450 | 22:42,522,538 | T/C | — | drug response |
| rs767815488 | 22:42,522,599 | C/T | — | uncertain significance |
| rs61731577 | 22:42,522,600 | A/G | synonymous variant | — |
| rs1135840 | 22:42,522,613 | G/C | synonymous | likely benign |
| rs28371736 | 22:42,522,621 | G/C | missense variant | — |
| rs75467367 | 22:42,522,625 | G/C | missense variant | — |
| rs74478221 | 22:42,522,626 | C/G | missense variant | — |
| rs1135839 | 22:42,522,627 | A/C | missense variant | — |
| rs1135838 | 22:42,522,629 | A/G | missense variant | drug response |
| rs1135837 | 22:42,522,635 | C/T | missense variant | — |
| rs28371735 | 22:42,522,638 | G/A | missense variant | — |
| rs1135836 | 22:42,522,660 | A/G | synonymous variant | — |
Showing 100 of 454 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.