Q6ZWL3
PR
Gene name |
CYP4V2 |
Protein name |
Cytochrome P450 4V2 |
Names |
Docosahexaenoic acid omega-hydroxylase CYP4V2, Long-chain fatty acid omega-monooxygenase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:285440 |
EC number |
1.14.14.79: With reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q6ZWL3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6ZWL3-F1 | Predicted | AlphaFoldDB |
488 variants for Q6ZWL3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs763159414 RCV002546208 CA3162411 RCV001327047 |
14 | L>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001042460 CA3162412 RCV002552508 rs200010109 |
15 | L>P | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_038606 RCV000132719 RCV000032544 RCV000082840 CA149664 rs1055138 RCV000278726 |
22 | L>V | Corneal dystrophy Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001003003 rs1481160549 CA358946592 |
40 | Y>* | Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000002271 CA339954 CA3162423 VAR_023084 RCV001238785 rs119103282 |
44 | W>R | Bietti crystalline corneoretinal dystrophy BCD [ClinVar, UniProt] | Yes |
ClinGen ESP ExAC TOPMed gnomAD ClinVar UniProt dbSNP |
|
RCV000338412 rs760001831 CA10618426 RCV001850848 RCV000405645 |
55 | R>S | Corneal dystrophy Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA224406 RCV002514453 rs374174110 RCV000082839 |
57 | Y>H | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002481945 RCV001049085 rs1735999769 |
59 | L>missing | Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000002274 VAR_023085 rs119103285 CA339957 |
61 | G>S | Bietti crystalline corneoretinal dystrophy BCD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001862520 CA3162435 RCV001073864 rs778598903 |
65 | L>P | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs745413794 RCV001865638 RCV000504812 CA3162436 |
66 | M>R | Retinitis pigmentosa Retinitis pigmentosa (rp) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs199476185 RCV001074796 VAR_023086 RCV000032536 CA343723 RCV000352220 RCV001092654 |
79 | E>D | Corneal dystrophy Bietti crystalline corneoretinal dystrophy Retinal dystrophy BCD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001377212 rs199476186 RCV000032537 CA343724 |
85 | R>C | Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001221420 RCV000032538 rs199476187 CA343726 |
95 | G>R | Variant assessed as Somatic; 0.0 impact. Bietti crystalline corneoretinal dystrophy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000362639 CA3162494 rs143272248 RCV001053250 RCV000272624 |
101 | A>V | Bietti crystalline corneoretinal dystrophy Corneal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000358766 rs886059281 CA10620604 RCV000309066 |
104 | N>S | Corneal Dystrophy, Recessive Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA339955 RCV001047112 rs119103283 RCV000002272 VAR_023087 |
111 | I>T | Bietti crystalline corneoretinal dystrophy BCD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA343729 RCV000032540 rs199476188 |
112 | L>* | Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs149684063 RCV000260520 RCV000032541 RCV001074793 CA232864 RCV000132718 VAR_023088 |
123 | M>V | Bietti crystalline corneoretinal dystrophy Corneal dystrophy Retinal dystrophy BCD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000778727 RCV001388313 rs1228072399 CA358947157 |
127 | L>* | CYP4V2-Related Disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs199476189 RCV001093468 RCV000032542 CA343731 |
134 | G>* | Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001195425 RCV002561036 rs746484929 |
168 | E>missing | Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199476190 CA343733 RCV000032543 |
173 | L>W | Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001144049 rs61745524 RCV001144050 RCV000585567 CA3162612 |
204 | A>T | Corneal dystrophy Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs376640607 RCV000280676 RCV001225802 CA3162613 RCV000350264 |
209 | I>T | Corneal dystrophy Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_038607 RCV000966932 rs34331648 CA3162614 RCV000296354 RCV000386083 |
213 | S>N | Corneal dystrophy Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs199476191 RCV000032545 CA343735 |
219 | Y>H | Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000392054 RCV000351328 RCV002523469 CA3162617 rs745471184 |
221 | R>C | Variant assessed as Somatic; 0.0 impact. Bietti crystalline corneoretinal dystrophy Corneal dystrophy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000347765 rs763083895 COSM169719 CA3162618 RCV000306829 RCV002520232 |
221 | R>H | Variant assessed as Somatic; 0.0 impact. Corneal dystrophy Bietti crystalline corneoretinal dystrophy large_intestine [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs369063468 RCV001075339 RCV001388598 RCV001809979 COSM173041 CA3162637 |
232 | R>* | Variant assessed as Somatic; 0.0 impact. Bietti crystalline corneoretinal dystrophy large_intestine Retinal dystrophy [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000406483 rs531538384 RCV000303735 RCV001404855 CA3162640 |
246 | L>V | Bietti crystalline corneoretinal dystrophy Corneal dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs199476192 RCV000032546 |
254 | H>missing | Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000032547 rs199476193 RCV002513306 CA343738 |
254 | H>R | Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001148737 RCV001225922 RCV001148736 CA3162644 rs761190623 |
258 | L>I | Corneal dystrophy Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs13146272 RCV000244699 RCV001514369 RCV000358574 VAR_033821 RCV000268361 CA3162645 |
259 | Q>K | Corneal dystrophy Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001074178 rs775749608 |
265 | T>missing | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000387735 RCV000333143 CA3162674 VAR_055379 RCV000245860 RCV001523281 rs34745240 |
275 | E>K | Corneal dystrophy Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001144156 rs913510827 CA112127706 RCV001352014 RCV001144157 |
281 | D>N | Corneal dystrophy Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000032549 RCV002267722 rs199476194 CA343741 |
320 | R>* | Retinitis pigmentosa Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000032550 CA343743 rs199476195 |
324 | D>V | Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000032551 rs199476196 RCV001362372 COSM230559 CA343745 |
325 | T>I | Bietti crystalline corneoretinal dystrophy skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA343747 RCV001074450 rs199476197 RCV000490060 VAR_023089 RCV000032552 |
331 | H>P | Bietti crystalline corneoretinal dystrophy Retinal dystrophy BCD; impaired omega hydroxylase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001852653 RCV000032525 CA343703 rs199476198 |
340 | W>* | Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs199476199 CA343705 RCV000032526 VAR_023090 |
341 | S>P | Bietti crystalline corneoretinal dystrophy BCD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA3162763 RCV002557124 RCV002032372 COSM733876 RCV001148837 rs138739819 RCV001146046 |
368 | R>H | lung Variant assessed as Somatic; 0.0 impact. Bietti crystalline corneoretinal dystrophy Corneal dystrophy Inborn genetic diseases [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1579976512 RCV001003004 |
374 | D>* | Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs376015936 RCV001148839 RCV001363608 RCV001148838 RCV003163331 CA3162767 |
374 | D>Y | Corneal dystrophy Bietti crystalline corneoretinal dystrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA343706 RCV000032527 rs199476200 |
386 | K>T | Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs199476201 RCV001358595 CA343708 RCV000032528 |
390 | R>H | Variant assessed as Somatic; 0.0 impact. Bietti crystalline corneoretinal dystrophy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs199476201 RCV000987493 RCV001869345 CA358950221 |
390 | R>L | Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001148840 RCV002032382 rs143711287 RCV001148841 CA3162778 |
395 | V>A | Corneal dystrophy Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA343710 rs199476202 RCV001852654 RCV000032529 |
396 | P>L | Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA343712 RCV000368904 RCV000032530 COSM586931 rs138444697 |
400 | R>C | lung Bietti crystalline corneoretinal dystrophy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs199476203 RCV000659009 RCV000032531 CA343714 |
400 | R>H | Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA3162819 RCV000298644 RCV000355789 rs144008429 RCV001055970 |
430 | P>L | Bietti crystalline corneoretinal dystrophy Corneal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001150364 CA3162830 RCV001150365 RCV001429168 rs72646291 VAR_055381 RCV000594902 |
443 | R>Q | Corneal dystrophy Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000276069 RCV001210445 CA3162835 rs200623218 COSM209115 RCV000368375 |
447 | E>K | Bietti crystalline corneoretinal dystrophy Corneal dystrophy large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs199476204 RCV001046642 RCV000032533 CA343717 |
450 | Q>* | Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA3162840 RCV001305389 rs149681054 RCV001824172 |
452 | R>H | Retinitis pigmentosa Variant assessed as Somatic; 4.621e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001868143 RCV000622467 rs1554075115 CA358950659 |
459 | P>S | Variant assessed as Somatic; impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA276932 rs797045181 RCV000191926 |
466 | N>D | Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs762821992 RCV001342943 RCV000333426 RCV000362424 |
475 | M>V | Bietti crystalline corneoretinal dystrophy Corneal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs146494374 RCV000032534 |
482 | S>* | Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs119103284 RCV001238176 RCV000002273 VAR_023091 |
508 | R>H | Bietti crystalline corneoretinal dystrophy BCD [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV000032535 rs199476205 |
509 | P>L | Bietti crystalline corneoretinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs140450256 RCV001226952 RCV002563105 |
525 | R>C | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1338382631 CA358946323 |
2 | A>G | No |
ClinGen Ensembl |
|
|
CA358946332 rs1454728701 |
3 | G>V | No |
ClinGen gnomAD |
|
|
CA358946337 rs1301792055 |
4 | L>F | No |
ClinGen gnomAD |
|
|
rs1399400618 CA358946344 |
5 | W>R | No |
ClinGen gnomAD |
|
|
CA3162403 RCV001302343 rs556591903 |
5 | W>S | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA3162404 rs774501551 |
6 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1349421091 CA358946365 |
7 | G>W | No |
ClinGen gnomAD |
|
|
CA358946409 rs1232415716 |
11 | Q>* | No |
ClinGen gnomAD |
|
|
rs1469873504 CA358946410 |
11 | Q>R | No |
ClinGen gnomAD |
|
|
CA3162408 rs761973351 |
12 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs750455446 CA358946432 |
13 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs750455446 CA3162410 |
13 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA3162409 rs765537555 |
13 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA112119086 rs865902976 |
16 | W>C | No |
ClinGen Ensembl |
|
|
rs1579959408 CA358946462 |
18 | A>G | No |
ClinGen Ensembl |
|
|
CA112119093 rs867935019 |
19 | A>V | No |
ClinGen gnomAD |
|
|
rs752069631 CA112119100 |
20 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3162413 rs752069631 |
20 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3162414 rs755283061 |
21 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1055138 CA358946481 |
22 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1312890284 CA358946490 |
23 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1436045709 CA358946485 |
23 | S>T | No |
ClinGen gnomAD |
|
|
RCV001225403 rs1312890284 CA358946488 |
23 | S>Y | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA112119121 rs889469071 |
25 | A>T | No |
ClinGen TOPMed |
|
|
rs1299718485 CA358946503 |
26 | G>D | No |
ClinGen gnomAD |
|
|
CA3162415 rs753142235 |
26 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA358946505 rs1299718485 |
26 | G>V | No |
ClinGen gnomAD |
|
|
rs1245358016 CA358946506 |
27 | A>T | No |
ClinGen TOPMed |
|
|
CA3162416 rs755702568 |
28 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3162417 rs777542729 |
33 | L>P | No |
ClinGen ExAC gnomAD |
|
|
RCV001343218 rs1735996924 |
34 | L>P | No |
ClinVar dbSNP |
|
|
rs778936382 CA3162420 |
35 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3162421 rs200834925 |
39 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs574516881 CA3162422 |
41 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA358946601 rs1432583485 |
42 | R>Q | No |
ClinGen TOPMed |
|
|
CA112119191 rs901460992 |
42 | R>W | No |
ClinGen TOPMed |
|
| TCGA novel | 44 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1735998479 RCV001343291 |
48 | R>P | No |
ClinVar dbSNP |
|
|
CA3162425 rs376907847 |
50 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs933349743 CA112119212 |
51 | P>H | No |
ClinGen gnomAD |
|
|
CA3162428 rs766465711 |
53 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766465711 CA3162427 |
53 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1373142502 CA358946676 |
54 | A>S | No |
ClinGen gnomAD |
|
|
CA3162429 rs760001831 |
55 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768059118 CA3162430 |
56 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358946710 rs1188474460 |
60 | V>A | No |
ClinGen TOPMed |
|
|
rs893974930 CA112119253 |
60 | V>L | No |
ClinGen Ensembl |
|
|
CA3162434 rs756779672 |
62 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1207462111 CA358946725 |
63 | A>T | No |
ClinGen TOPMed |
|
|
CA358946744 rs1579959664 |
66 | M>I | No |
ClinGen Ensembl |
|
|
rs553484886 CA112119279 |
69 | D>E | No |
ClinGen 1000Genomes |
|
|
rs758390423 CA3162437 |
69 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780104160 CA3162438 |
70 | G>R | No |
ClinGen ExAC |
|
|
rs1404356099 CA358946772 |
71 | R>* | No |
ClinGen gnomAD |
|
|
rs1486888033 CA358946795 |
72 | E>D | No |
ClinGen gnomAD |
|
|
CA3162439 RCV001203732 rs377425030 |
72 | E>K | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs754919490 CA3162476 |
73 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA112120895 rs751069999 |
73 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3162475 rs751069999 |
73 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1561430786 RCV000732391 |
74 | F>missing | No |
ClinVar dbSNP |
|
|
rs1736084760 RCV001349219 |
77 | I>F | No |
ClinVar dbSNP |
|
|
CA358946838 rs1475165142 |
78 | I>M | No |
ClinGen TOPMed |
|
|
CA3162478 rs752486517 |
79 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781047997 CA3162477 |
79 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1561430819 CA358946848 |
80 | Y>C | No |
ClinGen Ensembl |
|
|
rs1172426931 CA358946866 |
83 | E>K | No |
ClinGen gnomAD |
|
|
CA358946877 rs1579961868 |
84 | Y>S | No |
ClinGen Ensembl |
|
|
CA3162481 rs559133074 COSM1053894 |
85 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs765859742 CA3162483 CA112120966 |
87 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3162484 rs377042245 |
88 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1561430865 CA358946902 |
88 | P>S | No |
ClinGen Ensembl |
|
|
RCV001214329 rs753751184 |
88 | P>missing | No |
ClinVar dbSNP |
|
|
rs770301714 CA3162488 |
91 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279661949 CA358946925 |
92 | L>F | No |
ClinGen gnomAD |
|
|
rs772955821 CA3162489 |
93 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA358946933 rs1355652513 |
93 | W>S | No |
ClinGen TOPMed |
|
|
rs961208459 CA112120992 |
97 | V>L | No |
ClinGen Ensembl |
|
|
rs1402621376 CA358946961 |
98 | P>S | No |
ClinGen gnomAD |
|
|
rs751065501 RCV001054913 CA3162492 |
99 | M>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA358946981 rs1192513455 |
101 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA358946979 rs1192513455 |
101 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1394451784 CA358946985 |
102 | L>F | No |
ClinGen TOPMed |
|
|
rs752645954 CA3162495 |
104 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755855410 CA358947002 CA3162496 |
104 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3162497 rs777576473 |
105 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3162498 rs534643986 |
105 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3162499 rs758628871 |
106 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1374019908 CA358947009 |
106 | E>Q | No |
ClinGen gnomAD |
|
|
CA3162500 rs780201946 |
108 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358947029 rs1441824959 |
109 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3162501 rs747109853 |
109 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 109 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749785448 CA112122085 |
110 | V>L | No |
ClinGen Ensembl |
|
|
CA3162522 rs755065439 |
111 | I>F | No |
ClinGen ExAC |
|
|
CA3162524 rs119103283 |
111 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474764060 CA358947055 |
112 | L>V | No |
ClinGen gnomAD |
|
|
rs368998803 CA112122099 RCV001338960 |
113 | T>S | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
|
rs756675453 CA3162525 |
115 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1206787340 CA358947078 |
116 | K>Q | No |
ClinGen TOPMed |
|
|
rs866920606 CA112122104 |
117 | Q>K | No |
ClinGen TOPMed |
|
|
CA358947088 rs1257667947 RCV001320923 |
117 | Q>P | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA3162527 rs148330760 |
118 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358947104 rs1193775310 |
119 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 120 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771216416 CA3162528 |
120 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771216416 CA358947111 |
120 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774007286 CA3162529 |
121 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs774007286 CA358947118 |
121 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs372662173 CA112122124 |
122 | S>F | No |
ClinGen ESP gnomAD |
|
|
rs1233081636 CA358947120 |
122 | S>P | No |
ClinGen gnomAD |
|
|
CA3162530 rs771753407 |
123 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1736138466 RCV001047109 |
126 | F>I | No |
ClinVar dbSNP |
|
|
rs1561431548 CA358947162 |
128 | E>K | No |
ClinGen Ensembl |
|
|
rs1579963357 CA358947178 |
130 | W>R | No |
ClinGen Ensembl |
|
|
CA112122130 rs1013303492 |
131 | L>F | No |
ClinGen Ensembl |
|
|
CA358947208 rs1217233740 |
135 | L>F | No |
ClinGen gnomAD |
|
|
CA3162532 rs764016255 |
135 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776440884 CA3162533 |
136 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA358947221 rs1471042715 |
137 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs764970229 CA3162535 |
138 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3162558 rs370950185 |
141 | N>K | No |
ClinGen ESP ExAC TOPMed |
|
|
RCV001348631 CA3162556 rs752979612 |
141 | N>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs753990809 CA3162559 |
142 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs1328551235 CA358947259 |
142 | K>Q | No |
ClinGen gnomAD |
|
|
RCV001241976 rs757683326 CA3162560 |
144 | R>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs779534809 CA3162561 |
144 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3946232 CA358947284 rs1344642919 |
145 | S>F | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs750786252 CA3162562 |
146 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA358947302 rs1212918055 |
148 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA358947312 rs1230166603 |
149 | M>I | No |
ClinGen TOPMed |
|
| TCGA novel | 150 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358947327 rs1231355715 |
151 | T>I | No |
ClinGen gnomAD |
|
|
rs758769153 CA3162563 |
152 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779627569 CA3162564 |
152 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs758769153 CA358947329 |
152 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768393090 CA3162566 |
155 | H>R | No |
ClinGen ExAC |
|
|
CA3162568 rs747748338 |
156 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs957313060 CA112124434 |
157 | T>A | No |
ClinGen Ensembl |
|
|
rs769612802 CA3162569 |
158 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3162570 rs773206217 |
159 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA112124448 rs370543462 |
162 | F>L | No |
ClinGen Ensembl |
|
|
rs965425263 CA112124451 |
164 | D>G | No |
ClinGen TOPMed |
|
|
CA3162571 rs762776506 |
165 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3162575 rs775816650 |
170 | A>V | No |
ClinGen ExAC |
|
|
CA358947457 rs1394771678 |
171 | N>D | No |
ClinGen gnomAD |
|
|
CA358947466 rs1332638695 |
172 | I>L | No |
ClinGen gnomAD |
|
|
rs760949006 CA3162576 |
174 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs150875391 CA112124469 |
174 | V>I | No |
ClinGen ESP TOPMed |
|
|
rs1424107341 CA358947523 |
180 | H>R | No |
ClinGen TOPMed |
|
|
rs1736169852 RCV001345802 |
180 | H>Y | No |
ClinVar dbSNP |
|
|
rs138297987 CA3162580 |
181 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3162578 rs201006021 RCV000276845 |
181 | I>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA358947533 rs1331368662 |
182 | N>D | No |
ClinGen gnomAD |
|
|
rs765599061 CA3162581 |
183 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs945246638 CA112124508 |
184 | E>G | No |
ClinGen TOPMed |
|
|
CA3162583 rs758719879 |
185 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758719879 CA358947556 |
185 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750943905 CA3162582 |
185 | A>P | No |
ClinGen ExAC |
|
|
rs758719879 CA3162584 |
185 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218953078 CA358947567 |
187 | N>H | No |
ClinGen gnomAD |
|
|
rs569336882 CA3162586 |
187 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA358947593 rs1211943359 |
190 | F>C | No |
ClinGen gnomAD |
|
|
CA358947601 rs1269525621 |
191 | Y>F | No |
ClinGen gnomAD |
|
|
rs79128796 CA112124552 RCV001294596 |
191 | Y>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1467050790 | 191 | Y>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358947606 rs1452462895 |
192 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 194 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747545322 CA3162588 |
199 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1171777541 CA358947659 |
200 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 202 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1397495020 CA358947699 |
203 | T>I | No |
ClinGen gnomAD |
|
|
rs1397867898 CA358947703 |
204 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 205 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358947709 rs1335050616 |
205 | M>T | No |
ClinGen gnomAD |
|
|
CA358947719 rs1579964729 |
206 | G>E | No |
ClinGen Ensembl |
|
|
rs1283933679 CA358947727 |
207 | K>N | No |
ClinGen gnomAD |
|
|
rs1238465346 CA358947724 |
207 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA358947756 rs1468395314 |
212 | Q>* | No |
ClinGen TOPMed |
|
|
rs200664958 CA3162615 CA358947775 |
214 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA358947773 rs1280153597 |
214 | N>S | No |
ClinGen gnomAD |
|
|
rs770048736 CA3162616 |
218 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745471184 CA112125050 |
221 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA358947820 rs763083895 |
221 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249495453 CA358947826 |
222 | A>V | No |
ClinGen gnomAD |
|
|
CA358947832 rs1381609961 |
223 | V>A | No |
ClinGen gnomAD |
|
|
rs919251190 CA112125940 |
225 | R>S | No |
ClinGen TOPMed |
|
|
RCV001234046 rs1256187484 CA358947844 |
225 | R>T | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs779872570 CA358947862 |
226 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3162633 rs779872570 |
226 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3162635 rs563685672 RCV001212400 |
229 | M>T | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1736231877 TCGA novel RCV001042150 |
230 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA dbSNP |
|
rs769997131 CA3162636 |
231 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs749306127 RCV001323147 CA3162638 |
232 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 233 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1047029447 CA112125975 |
234 | I>M | No |
ClinGen TOPMed |
|
| TCGA novel | 237 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1460876704 CA358947963 |
240 | W>S | No |
ClinGen gnomAD |
|
|
CA358948011 rs1579965838 |
247 | M>L | No |
ClinGen Ensembl |
|
|
CA3162641 rs372835618 |
247 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV001222607 rs1365813584 |
250 | E>missing | No |
ClinVar dbSNP |
|
|
CA112126001 rs372138232 |
250 | E>Q | No |
ClinGen gnomAD |
|
|
rs1302488769 CA358948043 |
251 | G>R | No |
ClinGen gnomAD |
|
|
rs1480754571 CA358948053 |
252 | W>* | No |
ClinGen TOPMed |
|
|
rs1268086253 CA358948059 |
253 | E>A | No |
ClinGen TOPMed |
|
|
CA358948057 rs1561432950 |
253 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA358948069 rs1217124961 |
254 | H>Q | No |
ClinGen gnomAD |
|
|
rs775911832 CA3162643 |
256 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs767723431 | 257 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358948100 rs13146272 |
259 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1489291710 CA358948108 |
260 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
RCV001238300 CA3162646 rs753561422 |
260 | I>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA112126066 rs899616707 |
260 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1172499357 CA358948142 |
265 | T>S | No |
ClinGen gnomAD |
|
|
CA112126103 rs992940688 |
267 | S>N | No |
ClinGen Ensembl |
|
|
CA3162667 rs377390043 |
268 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs377390043 CA3162666 |
268 | V>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs749940173 CA3162670 |
270 | A>G | No |
ClinGen ExAC TOPMed |
|
|
CA358948181 rs1390601426 |
270 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3162669 rs749940173 |
270 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA112127633 rs17855071 |
271 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 271 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358948185 rs17855071 |
271 | E>K | No |
ClinGen Ensembl |
|
|
CA358948195 rs1228435590 RCV001307775 |
272 | R>Q | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs751518582 CA3162672 |
272 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754726100 CA3162673 |
274 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197066845 CA358948222 |
276 | M>I | No |
ClinGen TOPMed |
|
|
CA358948225 rs1218331426 |
277 | N>H | No |
ClinGen gnomAD |
|
|
RCV001244715 rs72646276 CA358948231 |
277 | N>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs142136741 CA3162676 COSM1428958 |
278 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs745895075 CA358948243 |
279 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs779071984 CA3162677 |
279 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1182571993 CA358948263 |
282 | C>Y | No |
ClinGen gnomAD |
|
|
CA358948269 rs780564249 |
283 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA358948278 rs1345068520 |
284 | G>D | No |
ClinGen TOPMed |
|
|
rs769330523 CA3162681 |
287 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1414283773 CA358948296 |
287 | R>K | No |
ClinGen gnomAD |
|
|
rs1414283773 CA358948298 |
287 | R>T | No |
ClinGen gnomAD |
|
|
CA358948302 rs748586296 |
288 | G>D | No |
ClinGen ExAC gnomAD |
|
|
RCV001215417 CA112127744 rs370303148 |
288 | G>R | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3162682 rs370303148 |
288 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3162683 rs748586296 |
288 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1374016413 RCV001305198 CA358948321 |
291 | P>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
| TCGA novel | 292 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA112127752 rs912050331 |
292 | S>Y | No |
ClinGen TOPMed |
|
|
rs924936932 CA112127757 |
293 | K>R | No |
ClinGen gnomAD |
|
|
rs772750424 CA3162685 |
294 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3162686 rs762474840 COSM1202898 |
296 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA358948351 rs1198561303 |
296 | R>H | No |
ClinGen gnomAD |
|
|
CA358948361 rs1280451304 |
298 | A>T | No |
ClinGen gnomAD |
|
|
CA3162687 rs765836559 |
298 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 300 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3162688 rs140344168 RCV001226747 |
301 | D>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1203727501 CA358948382 |
301 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
RCV001211043 rs894863416 CA112127796 |
310 | E>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA358948475 rs894863416 COSM1053897 |
310 | E>K | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA358948487 rs1401617870 |
311 | G>E | No |
ClinGen TOPMed |
|
|
CA3162690 rs375077034 |
311 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 311 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358948491 rs1170838878 RCV001063919 |
312 | N>Y | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs752484506 CA3162691 |
313 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA358948537 rs1415330249 |
315 | S>R | No |
ClinGen gnomAD |
|
|
CA358948542 rs1431866704 |
316 | H>Y | No |
ClinGen TOPMed |
|
|
rs144129557 RCV001227981 CA3162693 |
317 | E>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3162694 rs765442992 |
319 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1561433959 CA358948583 |
320 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs779971050 CA3162698 |
322 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3162697 rs758467157 |
322 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs765317114 RCV001352439 |
322 | E>missing | No |
ClinVar dbSNP |
|
|
CA3162699 RCV001069465 rs747139135 |
323 | V>A | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs200916028 CA112127907 |
325 | T>A | No |
ClinGen 1000Genomes |
|
|
CA3162702 COSM1428960 rs770074074 |
327 | M>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs748463710 CA3162701 |
327 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1296185641 CA358949198 |
330 | G>E | No |
ClinGen gnomAD |
|
|
rs756682711 CA3162723 |
331 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1242069743 CA358949214 |
332 | D>G | No |
ClinGen TOPMed |
|
|
CA358949208 rs1341197524 |
332 | D>H | No |
ClinGen TOPMed |
|
|
COSM1732304 CA358949206 rs1341197524 |
332 | D>N | NS Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs770486749 CA3162725 |
334 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA112131613 rs766885745 |
337 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 340 | W>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358949306 rs1444788981 |
341 | S>C | No |
ClinGen TOPMed |
|
|
CA112131649 rs745326082 CA3162726 |
342 | L>F | No |
ClinGen ExAC TOPMed |
|
|
rs771594373 CA3162727 |
343 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA358949318 rs1203973154 |
343 | Y>H | No |
ClinGen TOPMed |
|
|
CA358949358 rs1216160461 |
347 | S>P | No |
ClinGen gnomAD |
|
|
CA3162728 rs775369379 RCV001063749 |
350 | E>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA358949386 rs1284066885 |
350 | E>Q | No |
ClinGen gnomAD |
|
|
rs1216129990 CA358949437 |
354 | K>T | No |
ClinGen TOPMed |
|
|
CA112131667 rs112087566 |
355 | V>A | No |
ClinGen Ensembl |
|
|
CA358949460 rs146521931 |
356 | D>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
RCV001248173 rs146521931 CA112131673 |
356 | D>V | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
|
rs1023060052 CA112131693 |
357 | H>D | No |
ClinGen TOPMed |
|
|
rs760501901 CA3162730 |
357 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1189085185 CA358949478 |
358 | E>* | No |
ClinGen gnomAD |
|
|
rs1189085185 CA358949476 |
358 | E>Q | No |
ClinGen gnomAD |
|
|
rs202202084 CA3162731 |
360 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA358949517 rs1346656401 |
361 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
RCV001227186 CA3162732 rs374223072 |
361 | D>Y | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3162734 rs766647591 |
362 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs759646502 CA3162736 |
363 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs757580043 CA3162759 |
364 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1397702839 CA358949548 |
364 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs200636986 CA3162761 |
366 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1455774079 CA358949887 |
367 | D>H | No |
ClinGen TOPMed |
|
|
rs150187626 CA3162762 |
368 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358949909 rs1168696023 |
369 | P>L | No |
ClinGen gnomAD |
|
|
COSM304730 rs779827355 CA3162764 |
369 | P>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs182965036 CA3162765 |
370 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3162766 rs754535434 |
371 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs61755911 VAR_055380 RCV000087016 CA228957 |
372 | V>I | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs58584561 CA112134698 |
373 | E>K | No |
ClinGen Ensembl |
|
|
CA112134719 rs1003072337 |
374 | D>G | No |
ClinGen Ensembl |
|
|
rs769900016 CA3162768 |
375 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1282970941 CA358950129 |
376 | K>E | No |
ClinGen TOPMed |
|
|
CA358950146 rs1237272749 |
378 | L>F | No |
ClinGen TOPMed |
|
|
CA358950151 rs749161735 COSM3946233 |
379 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs749161735 CA3162770 |
379 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773125864 CA3162769 |
379 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1260479719 CA358950158 |
380 | Y>* | No |
ClinGen gnomAD |
|
|
rs772353907 CA3162771 |
380 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1439983369 CA358950176 |
383 | C>Y | No |
ClinGen TOPMed |
|
|
rs1579976544 CA358950185 |
384 | V>A | No |
ClinGen Ensembl |
|
|
CA358950188 rs1307585398 |
385 | I>V | No |
ClinGen gnomAD |
|
|
CA3162772 rs199476200 |
386 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 387 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760624357 CA3162773 |
387 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764267035 CA3162774 |
388 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs776616377 CA3162776 |
390 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1173043 rs1344497909 CA358950239 |
393 | P>L | oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 393 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762287609 CA3162777 |
394 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1156934085 CA358950249 |
395 | V>F | No |
ClinGen TOPMed |
|
|
rs750786304 CA3162779 |
398 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3162781 rs758771290 |
399 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs758771290 CA3162780 |
399 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3162782 rs751253268 |
399 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199476203 CA3162783 |
400 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA358950274 rs138444697 |
400 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756115470 CA3162784 |
401 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777857814 CA3162785 |
401 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs113698661 CA3162786 |
403 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3162787 rs4561961 |
404 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA112134822 rs4561961 |
404 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358950302 rs1349415348 |
405 | D>Y | No |
ClinGen TOPMed |
|
|
CA358950313 rs201644385 |
406 | C>F | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs775536105 CA3162788 |
406 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA112134823 rs201644385 |
406 | C>Y | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs747225939 CA3162789 |
408 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1218463537 CA358950331 |
409 | A>T | No |
ClinGen gnomAD |
|
|
rs566680277 CA112134920 |
410 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
RCV001351152 rs566680277 CA3162805 |
410 | G>V | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP |
|
|
CA3162806 rs774903143 |
411 | Y>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 412 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745710586 CA3162807 |
412 | R>T | No |
ClinGen ExAC |
|
|
rs768922496 CA3162808 |
414 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358950372 rs768922496 |
414 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780515755 CA112134958 |
416 | G>S | No |
ClinGen Ensembl |
|
|
rs781400516 CA3162809 |
417 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1736627536 RCV001239264 |
417 | T>F | No |
ClinVar dbSNP |
|
|
rs769889526 CA3162811 |
417 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781400516 CA3162810 |
417 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358950405 rs1044405297 |
420 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1044405297 CA112135002 |
420 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 423 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763492201 CA3162813 |
424 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001040313 CA112135036 rs1002978806 |
425 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA3162814 rs771398250 |
425 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA358950443 rs1561438407 |
426 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1184258309 CA358950449 |
427 | H>Y | No |
ClinGen gnomAD |
|
|
CA3162818 rs752446165 |
429 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA358950465 rs1398982195 |
429 | D>G | No |
ClinGen TOPMed |
|
|
rs767139838 CA3162817 |
429 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1579976929 CA358950483 |
432 | Y>S | No |
ClinGen Ensembl |
|
|
rs1398531485 CA358950490 |
433 | F>L | No |
ClinGen TOPMed |
|
|
rs377733155 CA3162821 |
434 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1579976949 CA358950504 |
435 | N>T | No |
ClinGen Ensembl |
|
|
CA358950510 rs1172459333 |
436 | P>A | No |
ClinGen gnomAD |
|
|
rs1736630310 RCV001206101 |
436 | P>L | No |
ClinVar dbSNP |
|
|
CA3162824 rs750224316 |
437 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001058545 CA3162825 rs558238506 |
438 | E>K | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA358950531 rs1434080763 |
439 | F>V | No |
ClinGen gnomAD |
|
|
rs748333822 CA3162827 |
439 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA358950543 rs1346140935 |
440 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
RCV001352267 CA3162828 rs770028183 |
442 | E>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV001045505 CA3162829 rs777774802 COSM1485882 |
443 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA358950560 rs1274024315 |
444 | F>I | No |
ClinGen gnomAD |
|
|
rs1579977022 CA358950572 |
445 | F>S | No |
ClinGen Ensembl |
|
|
rs746220304 RCV001891968 |
447 | E>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 449 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358950606 rs1561438525 |
450 | Q>R | No |
ClinGen Ensembl |
|
|
CA3162837 rs760354010 CA358950611 |
451 | G>R | No |
ClinGen ExAC gnomAD |
|
|
RCV001350644 rs373329783 CA3162839 |
452 | R>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3162841 rs563017506 |
453 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV001324501 rs1304803543 CA358950631 |
454 | P>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs144501601 CA3162842 |
456 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 456 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758395671 CA3162843 |
457 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA358950646 rs1365002833 |
457 | Y>H | No |
ClinGen TOPMed |
|
|
rs202204817 CA3162845 |
458 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1270828621 CA358950662 |
459 | P>L | No |
ClinGen gnomAD |
|
|
CA358950669 rs1208292023 |
460 | F>L | No |
ClinGen gnomAD |
|
|
CA3162846 rs756264199 |
460 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA112135290 rs933204437 |
461 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 461 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139270994 CA3162847 |
462 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV001294681 rs1490621697 CA358950682 |
463 | G>C | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA358950683 rs749375330 |
463 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA3162848 rs749375330 |
463 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs144109267 CA273326 RCV000153133 |
465 | R>G | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 466 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358950717 rs1266637132 |
468 | I>M | No |
ClinGen TOPMed |
|
|
CA112135313 rs934552351 RCV001327200 |
468 | I>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs764616926 | 471 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368359294 RCV001069363 |
481 | L>V | No |
ClinVar dbSNP |
|
| rs770843894 | 496 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142244984 RCV001044916 |
498 | E>A | No |
ClinVar dbSNP |
|
|
RCV001304570 rs761881255 |
499 | L>F | No |
ClinVar dbSNP |
|
| TCGA novel | 500 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001341262 rs1736681246 |
501 | L>V | No |
ClinVar dbSNP |
|
| TCGA novel | 512 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs775079710 | 525 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140450256 RCV001248522 |
525 | R>S | No |
ClinVar dbSNP |
1 associated diseases with Q6ZWL3
[MIM: 210370]: Bietti crystalline corneoretinal dystrophy (BCD)
An autosomal recessive ocular disease characterized by retinal degeneration and marginal corneal dystrophy. Typical features include multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field. Most patients have similar crystals at the corneoscleral limbus. Patients develop decreased vision, nyctalopia, and paracentral scotomata between the 2nd and 4th decade of life. Later, they develop peripheral visual field loss and marked visual impairment, usually progressing to legal blindness by the 5th or 6th decade of life. {ECO:0000269|PubMed:15042513, ECO:0000269|PubMed:22772592}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive ocular disease characterized by retinal degeneration and marginal corneal dystrophy. Typical features include multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field. Most patients have similar crystals at the corneoscleral limbus. Patients develop decreased vision, nyctalopia, and paracentral scotomata between the 2nd and 4th decade of life. Later, they develop peripheral visual field loss and marked visual impairment, usually progressing to legal blindness by the 5th or 6th decade of life. {ECO:0000269|PubMed:15042513, ECO:0000269|PubMed:22772592}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q6ZWL3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Cytochrome P450, conserved site | 460 - 469 | IPR017972 |
Functions
| Description | ||
|---|---|---|
| EC Number | 1.14.14.79 | With reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| heme binding | Binding to a heme, a compound composed of iron complexed in a porphyrin (tetrapyrrole) ring. |
| iron ion binding | Binding to an iron (Fe) ion. |
| long-chain fatty acid omega-hydroxylase activity | Catalysis of the reaction: an omega-methyl-long-chain fatty acid + O2 + reduced = an omega-hydroxy-long-chain fatty acid + H(+) + H2O + oxidized |
| monooxygenase activity | Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| fatty acid omega-oxidation | A fatty acid oxidation process in which the methyl group at the end of the fatty acid molecule (the omega carbon) is first oxidized to a hydroxyl group, then to an oxo group, and finally to a carboxyl group. The long chain dicarboxylates derived from omega-oxidation then enter the beta-oxidation pathway for further degradation. |
| response to stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism. |
| retinoid metabolic process | The chemical reactions and pathways involving retinoids, any member of a class of isoprenoids that contain or are derived from four prenyl groups linked head-to-tail. Retinoids include retinol and retinal and structurally similar natural derivatives or synthetic compounds, but need not have vitamin A activity. |
| sterol metabolic process | The chemical reactions and pathways involving sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. |
| visual perception | The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. |
36 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9VYQ5 | Cyp318a1 | Probable cytochrome P450 318a1 | Drosophila melanogaster (Fruit fly) | PR |
| Q9VVN6 | Cyp312a1 | Probable cytochrome P450 312a1 | Drosophila melanogaster (Fruit fly) | PR |
| Q9V559 | Cyp4p3 | Probable cytochrome P450 4p3 | Drosophila melanogaster (Fruit fly) | PR |
| Q9V7G5 | Cyp4aa1 | Probable cytochrome P450 4aa1 | Drosophila melanogaster (Fruit fly) | PR |
| Q9VMS7 | Cyp4ac3 | Probable cytochrome P450 4ac3 | Drosophila melanogaster (Fruit fly) | PR |
| Q9VMS8 | Cyp4ac2 | Probable cytochrome P450 4ac2 | Drosophila melanogaster (Fruit fly) | PR |
| Q9VXY0 | Cyp4s3 | Probable cytochrome P450 4s3 | Drosophila melanogaster (Fruit fly) | PR |
| Q86W10 | CYP4Z1 | Cytochrome P450 4Z1 | Homo sapiens (Human) | PR |
| Q5TCH4 | CYP4A22 | Cytochrome P450 4A22 | Homo sapiens (Human) | PR |
| Q02928 | CYP4A11 | Cytochrome P450 4A11 | Homo sapiens (Human) | PR |
| P13584 | CYP4B1 | Cytochrome P450 4B1 | Homo sapiens (Human) | PR |
| B6SSW8 | CYP714B3 | Cytochrome P450 714B3 | Zea mays (Maize) | PR |
| O35728 | Cyp4a14 | Cytochrome P450 4A14 | Mus musculus (Mouse) | PR |
| Q91WL5 | Cyp4a12a | Cytochrome P450 4A12A | Mus musculus (Mouse) | PR |
| Q9GJX5 | CYP4A21 | Taurochenodeoxycholic 6 alpha-hydroxylase | Sus scrofa (Pig) | PR |
| Q8SPK1 | CYP4A24 | Cytochrome P450 4A24 | Sus scrofa (Pig) | PR |
| P24464 | Cyp4a12 | Cytochrome P450 4A12 | Rattus norvegicus (Rat) | PR |
| G3V7X8 | Cyp26b1 | Cytochrome P450 26B1 | Rattus norvegicus (Rat) | PR |
| P20816 | Cyp4a2 | Cytochrome P450 4A2 | Rattus norvegicus (Rat) | PR |
| Q05JG2 | CYP707A5 | Abscisic acid 8'-hydroxylase 1 | Oryza sativa subsp japonica (Rice) | PR |
| Q6F4F5 | CYP724B1 | Cytochrome P450 724B1 | Oryza sativa subsp japonica (Rice) | PR |
| Q0DS59 | CYP714B2 | Cytochrome P450 714B2 | Oryza sativa subsp japonica (Rice) | PR |
| Q5KQH7 | CYP714D1 | Cytochrome P450 714D1 | Oryza sativa subsp japonica (Rice) | PR |
| Q9C788 | CYP704B1 | Cytochrome P450 704B1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZUX1 | CYP94C1 | Cytochrome P450 94C1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O81077 | CYP707A2 | Abscisic acid 8'-hydroxylase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O64698 | CYP710A2 | Cytochrome P450 710A2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O64697 | CYP710A1 | Cytochrome P450 710A1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q94IA6 | CYP90D1 | 3-epi-6-deoxocathasterone 23-monooxygenase CYP90D1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q6TBX7 | CYP97C1 | Carotene epsilon-monooxygenase, chloroplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LUC5 | CYP72A15 | Cytochrome P450 72A15 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LUC6 | CYP72A14 | Cytochrome P450 72A14 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LUC8 | CYP72A13 | Cytochrome P450 72A13 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LUC9 | CYP72A11 | Cytochrome P450 72A11 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SHG5 | CYP72C1 | Cytochrome P450 72C1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q6EIG3 | cyp26b1 | Cytochrome P450 26B1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGLWLGLVW | QKLLLWGAAS | ALSLAGASLV | LSLLQRVASY | ARKWQQMRPI | PTVARAYPLV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GHALLMKPDG | REFFQQIIEY | TEEYRHMPLL | KLWVGPVPMV | ALYNAENVEV | ILTSSKQIDK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SSMYKFLEPW | LGLGLLTSTG | NKWRSRRKML | TPTFHFTILE | DFLDIMNEQA | NILVKKLEKH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| INQEAFNCFF | YITLCALDII | CETAMGKNIG | AQSNDDSEYV | RAVYRMSEMI | FRRIKMPWLW |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LDLWYLMFKE | GWEHKKSLQI | LHTFTNSVIA | ERANEMNANE | DCRGDGRGSA | PSKNKRRAFL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DLLLSVTDDE | GNRLSHEDIR | EEVDTFMFEG | HDTTAAAINW | SLYLLGSNPE | VQKKVDHELD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DVFGKSDRPA | TVEDLKKLRY | LECVIKETLR | LFPSVPLFAR | SVSEDCEVAG | YRVLKGTEAV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IIPYALHRDP | RYFPNPEEFQ | PERFFPENAQ | GRHPYAYVPF | SAGPRNCIGQ | KFAVMEEKTI |
| 490 | 500 | 510 | 520 | ||
| LSCILRHFWI | ESNQKREELG | LEGQLILRPS | NGIWIKLKRR | NADER |