Q86W10
Gene name |
CYP4Z1 |
Protein name |
Cytochrome P450 4Z1 |
Names |
CYPIVZ1, Laurate 7-monooxygenase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:199974 |
EC number |
1.14.14.1: 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 Q86W10
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q86W10-F1 | Predicted | AlphaFoldDB |
426 variants for Q86W10
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA340231420 rs1284796723 |
3 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs763125700 CA840329 |
4 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763125700 CA340231432 |
4 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA840332 rs762137487 |
5 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA840331 rs751710132 |
5 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188735783 CA340231442 |
5 | W>S | No |
ClinGen gnomAD |
|
|
CA840333 rs767665833 |
7 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs267598629 CA22014368 |
8 | E>K | No |
ClinGen Ensembl |
|
|
CA340231481 rs1179465400 |
9 | L>I | No |
ClinGen gnomAD |
|
|
rs1418584594 CA340231496 |
10 | M>V | No |
ClinGen gnomAD |
|
|
rs368380182 CA22014372 |
11 | A>V | No |
ClinGen ESP TOPMed |
|
|
CA840336 rs372321679 |
12 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA840338 rs780534056 |
12 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs754400619 CA340231535 |
13 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754400619 CA840339 |
13 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375915739 CA840341 |
17 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368911622 CA840342 |
21 | C>F | No |
ClinGen ESP ExAC |
|
| TCGA novel | 22 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA840343 rs746529579 |
22 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 23 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA840344 rs770566853 |
27 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1340000860 CA340231758 |
29 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 31 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA840346 rs1553154607 |
34 | Q>* | No |
ClinGen Ensembl |
|
|
rs1441076599 CA340231906 |
37 | R>K | No |
ClinGen gnomAD |
|
|
CA840349 rs769783483 |
38 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs564652252 CA22014437 |
39 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA340231931 rs1318144948 |
39 | M>L | No |
ClinGen TOPMed |
|
|
CA840350 rs775555015 |
39 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768825844 CA840352 |
42 | A>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 42 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA840353 rs555609744 |
43 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1171645139 CA340232004 |
44 | H>Q | No |
ClinGen gnomAD |
|
|
rs1284298719 CA340231994 |
44 | H>Y | No |
ClinGen TOPMed |
|
|
CA22014453 rs868399298 |
47 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1329277173 CA340232074 |
48 | A>E | No |
ClinGen gnomAD |
|
|
rs767710259 CA840355 |
49 | P>T | No |
ClinGen ExAC |
|
|
rs145478155 CA840356 |
50 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA22014454 rs922487285 |
51 | A>V | No |
ClinGen TOPMed |
|
|
rs1447320288 CA340232113 |
52 | H>D | No |
ClinGen TOPMed |
|
|
rs761013597 CA840357 |
52 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557619506 CA340232131 |
53 | W>* | No |
ClinGen Ensembl |
|
|
rs142469011 CA840358 |
53 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340232165 rs1274504569 |
54 | F>L | No |
ClinGen gnomAD |
|
|
rs1234005820 CA340232153 |
54 | F>S | No |
ClinGen gnomAD |
|
|
rs1485079244 CA340232176 |
55 | Y>C | No |
ClinGen gnomAD |
|
|
rs1465152336 CA340232173 |
55 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 55 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754308581 CA840359 |
58 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs753212900 CA840385 |
60 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA840386 rs74509104 |
62 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA22014801 rs202134276 |
62 | P>S | No |
ClinGen 1000Genomes |
|
|
CA340232504 rs750072642 |
65 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200543514 CA22014850 CA840390 |
66 | F>L | No |
ClinGen 1000Genomes |
|
|
CA340232532 rs1341663166 |
66 | F>S | No |
ClinGen gnomAD |
|
|
CA340232559 rs1244688646 |
67 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1326871510 CA340232538 |
67 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA840392 rs755791121 |
70 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779877978 CA840393 |
71 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA840394 rs749021898 |
71 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA840396 rs754793906 |
74 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA340232797 rs1256577866 |
76 | Y>C | No |
ClinGen gnomAD |
|
|
CA22014877 rs899483543 |
77 | P>A | No |
ClinGen TOPMed |
|
|
rs748081051 CA840398 |
78 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748081051 CA840399 |
78 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA840402 rs369394518 |
80 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779049952 CA22014895 |
81 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA840404 rs759942772 |
83 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs765578888 CA840405 |
83 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs1395744486 CA340232935 |
84 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1311229506 CA340232945 |
85 | G>* | No |
ClinGen TOPMed gnomAD |
|
|
CA340232948 rs1557620035 |
85 | G>E | No |
ClinGen Ensembl |
|
|
rs1311229506 COSM288593 CA340232939 |
85 | G>R | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA22014917 rs781053315 |
86 | P>H | No |
ClinGen gnomAD |
|
|
CA340232968 rs781053315 |
86 | P>L | No |
ClinGen gnomAD |
|
|
rs776044257 CA840408 |
88 | T>M | Variant assessed as Somatic; 0.0001848 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776044257 CA840407 |
88 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA840410 rs749906835 |
89 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA340233009 rs1351127579 |
89 | M>V | No |
ClinGen gnomAD |
|
|
rs769543799 CA840411 |
92 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1252643400 CA340233088 |
93 | V>I | No |
ClinGen gnomAD |
|
|
CA340233090 rs1252643400 |
93 | V>L | No |
ClinGen gnomAD |
|
|
CA840412 rs565485246 |
94 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs868678474 CA22014965 |
95 | D>N | No |
ClinGen TOPMed |
|
|
CA840414 rs754776635 |
96 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs753600181 CA840413 |
96 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA840416 rs752567740 |
97 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA840415 rs778608363 |
97 | D>H | No |
ClinGen ExAC |
|
|
rs758218840 CA840417 |
98 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373456415 CA840418 |
99 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs577489518 CA840419 COSM1343186 |
102 | L>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs111268513 CA22014987 |
102 | L>P | No |
ClinGen Ensembl |
|
|
rs771067083 CA840420 |
103 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1569695320 CA340233247 |
103 | L>P | No |
ClinGen Ensembl |
|
|
rs375117322 CA840421 |
104 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 105 | R>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746127297 CA840422 |
105 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA840424 rs181315648 |
107 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs181315648 CA840423 |
107 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340234221 rs1422159796 |
122 | G>D | No |
ClinGen gnomAD |
|
|
rs774973940 CA840445 |
123 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762445971 CA840446 |
123 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201511396 CA22018130 |
124 | G>E | No |
ClinGen Ensembl |
|
|
rs772732845 CA840447 |
124 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1437054116 CA340234255 |
126 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA840448 rs775955044 |
127 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs540867697 CA840449 |
130 | G>S | No |
ClinGen 1000Genomes ExAC |
|
|
CA340234334 rs1399206420 |
133 | W>* | No |
ClinGen gnomAD |
|
|
rs920975226 CA22018161 |
133 | W>C | No |
ClinGen TOPMed |
|
|
CA340234330 rs1399206420 |
133 | W>L | No |
ClinGen gnomAD |
|
|
CA840451 rs371107865 |
133 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340234341 rs1569713302 |
134 | K>E | No |
ClinGen Ensembl |
|
|
CA840454 rs146576339 COSM910386 |
137 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs146576339 CA340234378 |
137 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340234380 rs1228830023 |
137 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA340234412 CA340234410 rs1288972235 |
140 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA840455 rs763928046 |
142 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs757146734 CA840457 |
145 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA840459 rs750416622 |
146 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448902750 CA340234497 |
147 | S>G | No |
ClinGen TOPMed |
|
|
CA340234536 rs1261472100 |
152 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1441622373 CA340234540 |
153 | I>V | No |
ClinGen gnomAD |
|
|
CA340234559 rs1421571469 |
155 | M>I | No |
ClinGen gnomAD |
|
|
rs1413639367 CA340234554 |
155 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs150940120 CA840461 |
155 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340234566 rs1159912418 |
156 | M>I | No |
ClinGen gnomAD |
|
|
CA340234565 rs1569713459 |
156 | M>T | No |
ClinGen Ensembl |
|
|
rs749569807 CA840462 |
157 | S>C | No |
ClinGen ExAC |
|
|
CA840463 rs200076743 |
158 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340234574 rs200076743 |
158 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150189598 CA840464 |
160 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA840467 rs368708579 |
161 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375669698 CA840465 |
161 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs745363805 CA840468 |
162 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs769158046 CA840489 |
169 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA840488 rs552332557 |
169 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA340234673 rs775025928 |
170 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748820256 CA840491 |
170 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775025928 CA840490 |
170 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA840492 rs768243149 |
172 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs774000221 CA840493 |
173 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs375028977 CA840494 |
176 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148896426 CA840495 |
176 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA840498 rs766245765 |
178 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340234743 rs1220808443 |
181 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1259315140 CA340234747 |
181 | Q>L | No |
ClinGen gnomAD |
|
|
CA340234768 rs1193632172 |
184 | S>C | No |
ClinGen gnomAD |
|
|
CA340234784 rs1569716955 |
187 | T>P | No |
ClinGen Ensembl |
|
|
rs138229917 CA22019457 |
189 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753910598 CA840500 |
189 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs753024597 CA840503 |
192 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 193 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA840504 rs758670291 |
193 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778242775 CA340234832 |
194 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA840505 rs778242775 |
194 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA340234833 rs1307181285 |
194 | C>Y | No |
ClinGen gnomAD |
|
|
rs751900894 CA840506 |
195 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1460403785 CA340234838 |
195 | A>T | No |
ClinGen gnomAD |
|
|
rs1360881941 CA340234844 |
196 | F>V | No |
ClinGen TOPMed |
|
|
rs757734855 CA840507 |
198 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA840508 rs781568179 |
199 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA840509 rs748734462 |
200 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs768224738 CA840510 |
201 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200729848 CA840511 |
204 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA840513 rs771651766 |
205 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA340234918 rs1340518492 |
206 | S>N | No |
ClinGen gnomAD |
|
|
CA840523 rs764245113 |
207 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA340234964 rs1173317124 |
207 | T>N | No |
ClinGen TOPMed |
|
|
CA340234974 rs1364010627 |
208 | L>P | No |
ClinGen gnomAD |
|
|
rs1475425929 CA340234993 |
210 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA340234990 rs1475425929 |
210 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs751895440 CA840524 |
211 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340235037 rs368048506 |
214 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340235039 rs368048506 |
214 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA840525 rs368048506 |
214 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 215 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1380837458 CA340235086 |
218 | L>V | No |
ClinGen gnomAD |
|
|
CA340235099 rs1460991814 |
219 | S>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 222 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781664549 CA840526 |
224 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA340235156 rs1200630012 |
224 | Q>K | No |
ClinGen TOPMed |
|
|
CA840527 rs147199588 |
225 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA840530 rs778352142 |
225 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA840529 rs778352142 |
225 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA840528 rs147199588 |
225 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA840534 rs770687313 CA340235184 |
226 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA840533 rs199974985 |
226 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199974985 CA840532 |
226 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA840535 rs776686295 |
229 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs745842351 CA840536 |
231 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs769885808 CA840537 |
232 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA840539 rs762956296 |
234 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA840541 rs774507515 |
238 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1400394033 CA340235336 |
240 | S>I | No |
ClinGen TOPMed |
|
|
rs762227421 CA840542 |
241 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA840543 rs767921964 |
242 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 243 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1363397601 CA340235451 |
246 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA840544 rs750814802 |
249 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs756562508 CA840545 |
249 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403608509 CA340235501 |
250 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA840546 rs766881208 |
250 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340235514 rs1335250432 |
251 | Q>K | No |
ClinGen gnomAD |
|
|
rs752181365 CA840547 |
253 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA340235594 rs1443768844 |
255 | Q>H | No |
ClinGen TOPMed |
|
|
rs757912181 CA840548 |
256 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757912181 CA340235600 |
256 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159251255 CA340237181 |
258 | E>V | No |
ClinGen TOPMed |
|
|
rs761027908 CA840563 |
260 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA840565 rs754358760 |
263 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA840567 rs377341729 |
264 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA840566 rs757902695 |
264 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481046658 CA340237223 |
265 | K>E | No |
ClinGen TOPMed |
|
|
CA840569 rs147693904 |
267 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA840568 rs147693904 |
267 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA840571 rs202177126 |
271 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197689248 CA340237288 |
274 | Q>R | No |
ClinGen gnomAD |
|
|
CA840573 rs756043045 |
275 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA340237310 rs1557628710 |
277 | T>I | No |
ClinGen Ensembl |
|
|
rs780029967 CA840574 |
278 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1346049275 CA340237330 |
280 | R>M | No |
ClinGen TOPMed |
|
|
CA840577 rs768753257 |
280 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748235991 CA840578 |
281 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3718379 RCV000963055 rs146391078 CA840579 |
281 | R>H | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs146391078 CA340237335 |
281 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340237340 rs1279841440 |
282 | W>* | No |
ClinGen gnomAD |
|
|
CA840581 rs557601500 |
282 | W>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs539294690 CA840580 |
282 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200948225 CA22023759 |
285 | L>V | No |
ClinGen Ensembl |
|
|
CA840582 rs376220100 |
287 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1158480404 CA340237378 |
288 | L>V | No |
ClinGen TOPMed |
|
|
rs759919491 CA840584 |
290 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA840583 rs575780043 |
290 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 291 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1304959586 CA340237400 |
291 | A>T | No |
ClinGen gnomAD |
|
|
CA840612 rs199842930 |
293 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1415793074 CA340238418 |
294 | E>G | No |
ClinGen gnomAD |
|
|
rs754866665 COSM3771764 CA840614 |
294 | E>K | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA840616 rs778699945 |
297 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 297 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA840617 rs752678703 |
298 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340238526 rs1306246695 |
300 | S>C | No |
ClinGen TOPMed |
|
|
rs758440812 CA840618 |
300 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1156657141 CA340238534 |
301 | E>K | No |
ClinGen gnomAD |
|
|
CA340238556 rs1360891523 |
302 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA340238565 rs1360891523 |
302 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA840620 rs747113273 |
303 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436038844 CA340238576 |
303 | D>G | No |
ClinGen TOPMed |
|
|
rs1335938854 CA340238573 |
303 | D>Y | No |
ClinGen gnomAD |
|
|
CA840621 rs757365683 |
305 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1025067732 CA22025613 |
308 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA840623 rs549833831 |
310 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1430502668 CA340238698 |
311 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1430502668 CA340238695 |
311 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA340238706 rs1204875907 |
312 | M>L | No |
ClinGen gnomAD |
|
|
rs749854611 CA840626 |
312 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs769322320 CA840627 |
315 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA840629 rs760233218 |
316 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs772804055 CA840628 |
316 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA340238768 rs760233218 |
316 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs776401055 CA840631 |
321 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 322 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1190916823 CA340238850 |
323 | I>V | No |
ClinGen TOPMed |
|
|
CA840632 rs759228438 |
324 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA840634 rs568325668 |
325 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs972928351 CA22025679 |
325 | W>C | No |
ClinGen TOPMed |
|
|
rs568325668 CA840633 |
325 | W>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1263533473 CA340238922 |
327 | L>H | No |
ClinGen TOPMed |
|
|
CA340238914 rs1403774117 |
327 | L>I | No |
ClinGen gnomAD |
|
|
CA340238950 rs1218298296 |
329 | C>R | No |
ClinGen TOPMed |
|
|
CA340238980 rs1333431048 |
330 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs764032618 CA840636 |
331 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1336641403 CA340238990 |
331 | A>T | No |
ClinGen gnomAD |
|
|
rs1277941543 CA340239035 |
333 | Y>* | No |
ClinGen gnomAD |
|
|
CA340239052 rs1370207758 |
335 | E>K | No |
ClinGen gnomAD |
|
|
CA840637 rs375128008 |
336 | H>N | No |
ClinGen ESP ExAC TOPMed |
|
|
rs375128008 CA22025711 |
336 | H>Y | No |
ClinGen ESP ExAC TOPMed |
|
|
rs781259201 CA840639 |
337 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781259201 CA22025735 |
337 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222732005 CA340239117 |
338 | Q>E | No |
ClinGen TOPMed |
|
|
rs1340893286 CA340239148 |
340 | C>R | No |
ClinGen TOPMed |
|
|
CA340239156 rs1322023348 |
340 | C>Y | No |
ClinGen gnomAD |
|
|
CA840640 rs202100105 |
341 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756404977 COSM1687637 CA840641 |
341 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1436665985 COSM3490473 CA340239202 |
343 | E>K | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs780530512 CA840642 |
344 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA22025753 rs267598632 |
345 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs769215859 CA840644 |
348 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA22025765 rs371837744 |
351 | G>E | No |
ClinGen ESP gnomAD |
|
|
rs369575084 CA840646 |
351 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA840647 rs144381041 |
354 | I>T | No |
ClinGen ESP ExAC |
|
|
rs149156333 CA840675 |
356 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs149156333 CA840674 |
356 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1489165239 CA340240036 |
360 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA340240051 rs1219462326 |
361 | Q>R | No |
ClinGen TOPMed |
|
|
CA840677 rs201097161 |
364 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760900078 CA840678 |
365 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA840679 rs766692536 |
366 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340240094 rs766692536 |
366 | T>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA340240098 rs1569750966 |
367 | M>T | No |
ClinGen Ensembl |
|
|
CA840681 rs755361561 |
367 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340240123 rs1160349659 |
370 | K>R | No |
ClinGen gnomAD |
|
|
rs1569750988 CA340240137 |
372 | C>F | No |
ClinGen Ensembl |
|
|
rs373398954 CA840684 |
374 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs778146409 CA840685 |
374 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1159495159 CA340240153 |
375 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1384955053 CA340240156 |
375 | L>P | No |
ClinGen gnomAD |
|
|
rs142306823 CA840687 |
376 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1381027534 CA340240162 |
376 | Y>C | No |
ClinGen gnomAD |
|
|
rs138601503 CA840688 |
377 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs999250046 CA22028202 |
377 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs999250046 CA340240165 |
377 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs748981833 CA840689 |
378 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340240169 rs1355393737 |
378 | P>T | No |
ClinGen gnomAD |
|
|
CA340240178 rs1435648285 |
379 | V>A | No |
ClinGen TOPMed |
|
|
CA340240175 rs1348211256 |
379 | V>I | No |
ClinGen gnomAD |
|
|
rs761531357 CA840692 |
382 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA22028208 rs1010770929 |
383 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA340240200 rs1010770929 |
383 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA840694 rs773077143 |
384 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA840693 rs201816403 |
384 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760812035 CA840695 |
386 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766602882 CA840696 |
387 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776879110 CA340240231 |
388 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs776879110 CA840697 |
388 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs759780604 CA840698 |
389 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1179243011 CA340240236 |
389 | P>S | No |
ClinGen gnomAD |
|
|
CA340240245 rs4926802 |
390 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340240251 rs1312419675 |
391 | T>I | No |
ClinGen TOPMed |
|
|
CA340240249 rs1312419675 |
391 | T>N | No |
ClinGen TOPMed |
|
|
rs758756410 CA840701 |
392 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs28463559 VAR_048461 |
393 | P>L | No |
UniProt dbSNP |
|
|
CA340240270 rs1305796096 |
394 | D>V | No |
ClinGen gnomAD |
|
|
CA840702 rs144526298 |
396 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA22028249 rs918418362 |
398 | L>F | No |
ClinGen Ensembl |
|
|
rs1263733337 CA340240303 |
400 | A>S | No |
ClinGen gnomAD |
|
|
CA340240308 rs1231869810 |
401 | G>R | No |
ClinGen gnomAD |
|
|
rs747792357 CA840735 |
401 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1215297611 CA340242065 |
402 | I>R | No |
ClinGen gnomAD |
|
|
CA840736 rs376411085 |
403 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340242116 rs1292731078 |
405 | F>Y | No |
ClinGen gnomAD |
|
|
CA22031588 rs972386823 |
407 | N>D | No |
ClinGen TOPMed |
|
|
rs777659874 CA840737 |
407 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA340242145 rs972386823 |
407 | N>Y | No |
ClinGen TOPMed |
|
|
rs370572165 CA840738 |
410 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA22031590 rs942852654 |
410 | A>S | No |
ClinGen Ensembl |
|
|
CA340242195 rs370572165 |
410 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA340242214 rs1486478234 |
411 | L>P | No |
ClinGen gnomAD |
|
|
rs770923489 CA840739 |
412 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA340242223 rs1404814898 |
412 | H>Y | No |
ClinGen Ensembl |
|
|
CA22031594 rs375806778 |
415 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA840740 rs375806778 |
415 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201881781 CA840741 |
420 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1384184947 CA340242371 |
421 | P>T | No |
ClinGen gnomAD |
|
|
rs1404390352 CA340242388 |
422 | Q>E | No |
ClinGen TOPMed |
|
|
CA840762 rs374435579 |
423 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201141014 CA22031902 |
426 | P>S | No |
ClinGen 1000Genomes |
|
|
CA840764 rs774626847 |
428 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1206792114 CA340242922 |
432 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs762156478 CA840765 |
433 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA840766 rs772462300 |
434 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319397097 CA340242949 |
435 | E>G | No |
ClinGen TOPMed |
|
|
CA840769 rs531603801 |
437 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773593990 CA840767 |
437 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA340242982 CA340242983 rs1187296208 |
438 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA340242996 rs1446238110 |
440 | Y>H | No |
ClinGen Ensembl |
|
|
CA840770 rs766916827 |
441 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340243034 rs1355308921 |
443 | I>M | No |
ClinGen gnomAD |
|
|
CA840771 rs550113245 |
443 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762583234 CA840772 |
444 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340243070 rs1474044051 |
446 | S>L | No |
ClinGen gnomAD |
|
| rs1229976684 | 450 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1204320599 CA340243168 |
451 | N>T | No |
ClinGen TOPMed |
|
|
rs139887951 CA840792 |
452 | C>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA840791 rs139887951 |
452 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767280490 CA840793 |
453 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA22032410 rs1044614444 |
453 | I>T | No |
ClinGen TOPMed |
|
|
rs1448657007 CA340243207 |
455 | Q>* | Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA340243245 rs1297930202 |
458 | A>V | No |
ClinGen TOPMed |
|
|
CA340243251 rs1448887826 |
459 | I>T | No |
ClinGen gnomAD |
|
|
CA840796 rs766218898 |
459 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166994764 CA340243275 |
461 | E>D | No |
ClinGen gnomAD |
|
|
rs1003187628 CA22032436 |
461 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 461 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1362515073 CA340243292 |
463 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs753850057 CA840797 |
463 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs754935445 CA840798 |
464 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778928371 CA840799 |
465 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs778928371 CA340243309 |
465 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA340243329 rs748233968 |
467 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748233968 CA840800 |
467 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA840801 COSM2157009 rs145758676 |
472 | R>C | central_nervous_system Variant assessed as Somatic; 4.625e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA840802 rs778116331 |
472 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA340243385 rs1325376306 |
473 | F>L | No |
ClinGen gnomAD |
|
|
rs747332699 CA840803 |
474 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs771368249 CA840804 |
474 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1173846409 CA340243400 |
475 | L>Q | No |
ClinGen TOPMed |
|
|
rs1383047423 CA340243408 |
476 | A>G | No |
ClinGen gnomAD |
|
|
rs1383047423 CA340243409 |
476 | A>V | No |
ClinGen gnomAD |
|
|
CA340243435 rs776982528 |
479 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA840806 rs746327744 |
479 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA840805 rs776982528 |
479 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA340243445 rs1205667257 |
480 | S>L | No |
ClinGen gnomAD |
|
|
CA840807 CA340243456 rs770453315 |
481 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22032503 rs200917257 |
483 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
rs761419989 CA840809 |
485 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs571972072 CA840810 COSM910391 |
487 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed |
|
rs767060662 CA840812 |
487 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767060662 CA22032534 |
487 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340243527 rs1236281928 |
488 | Q>P | No |
ClinGen TOPMed |
|
| TCGA novel | 490 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA840814 rs199507217 |
491 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340243568 rs1209990571 |
491 | L>P | No |
ClinGen TOPMed |
|
|
rs753610164 CA840816 |
492 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA340243614 rs1159690392 |
495 | N>D | No |
ClinGen gnomAD |
|
|
rs1277235002 CA340243655 |
498 | H>P | No |
ClinGen TOPMed |
|
|
CA22032557 rs375736249 |
499 | V>A | No |
ClinGen ESP TOPMed |
|
|
rs1455236747 CA522616868 |
499 | V>G | No |
ClinGen gnomAD |
|
|
CA340243684 rs1406092263 |
500 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 502 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 502 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA840819 rs765174674 |
503 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA840818 rs754846563 |
503 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1239477453 CA340243736 |
504 | V>F | No |
ClinGen gnomAD |
|
| rs759035167 | 504 | V>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752762340 CA840820 |
505 | C>* | No |
ClinGen ExAC |
No associated diseases with Q86W10
1 regional properties for Q86W10
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Cytochrome P450, conserved site | 445 - 454 | IPR017972 |
Functions
| Description | ||
|---|---|---|
| EC Number | 1.14.14.1 | 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. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| arachidonic acid 14,15-epoxygenase activity | Catalysis of an NADPH- and oxygen-dependent reaction that converts arachidonic acid to cis-14,15-epoxyeicosatrienoic acid. |
| aromatase activity | Catalysis of the reduction of an aliphatic ring to yield an aromatic ring. |
| fatty acid in-chain hydroxylase activity | Catalysis of the reaction: fatty acid + O2 + 2 NADPH + H+ = fatty acid with in-chain hydroxy group + 2 NADP+ + H2O. |
| 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. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| arachidonic acid metabolic process | The chemical reactions and pathways involving arachidonic acid, a straight chain fatty acid with 20 carbon atoms and four double bonds per molecule. Arachidonic acid is the all-Z-(5,8,11,14)-isomer. |
| lauric acid metabolic process | The chemical reactions and pathways involving lauric acid, a fatty acid with the formula CH3(CH2)10COOH. Derived from vegetable sources. |
38 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9VYQ5 | Cyp318a1 | Probable cytochrome P450 318a1 | Drosophila melanogaster (Fruit fly) | PR |
| Q9V559 | Cyp4p3 | Probable cytochrome P450 4p3 | 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 |
| Q9VVN6 | Cyp312a1 | Probable cytochrome P450 312a1 | Drosophila melanogaster (Fruit fly) | PR |
| Q9VXY0 | Cyp4s3 | Probable cytochrome P450 4s3 | Drosophila melanogaster (Fruit fly) | PR |
| Q9V7G5 | Cyp4aa1 | Probable cytochrome P450 4aa1 | Drosophila melanogaster (Fruit fly) | PR |
| Q6ZWL3 | CYP4V2 | Cytochrome P450 4V2 | 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 |
| Q8SPK1 | CYP4A24 | Cytochrome P450 4A24 | Sus scrofa (Pig) | PR |
| Q9GJX5 | CYP4A21 | Taurochenodeoxycholic 6 alpha-hydroxylase | Sus scrofa (Pig) | PR |
| Q8SPK0 | CYP4A25 | Cytochrome P450 4A25 | Sus scrofa (Pig) | PR |
| G3V7X8 | Cyp26b1 | Cytochrome P450 26B1 | Rattus norvegicus (Rat) | PR |
| P20816 | Cyp4a2 | Cytochrome P450 4A2 | Rattus norvegicus (Rat) | PR |
| P24464 | Cyp4a12 | Cytochrome P450 4A12 | Rattus norvegicus (Rat) | PR |
| P20817 | Cyp4a14 | Cytochrome P450 4A14 | 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 |
| MEPSWLQELM | AHPFLLLILL | CMSLLLFQVI | RLYQRRRWMI | RALHLFPAPP | AHWFYGHKEF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YPVKEFEVYH | KLMEKYPCAV | PLWVGPFTMF | FSVHDPDYAK | ILLKRQDPKS | AVSHKILESW |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VGRGLVTLDG | SKWKKHRQIV | KPGFNISILK | IFITMMSESV | RMMLNKWEEH | IAQNSRLELF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QHVSLMTLDS | IMKCAFSHQG | SIQLDSTLDS | YLKAVFNLSK | ISNQRMNNFL | HHNDLVFKFS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SQGQIFSKFN | QELHQFTEKV | IQDRKESLKD | KLKQDTTQKR | RWDFLDILLS | AKSENTKDFS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EADLQAEVKT | FMFAGHDTTS | SAISWILYCL | AKYPEHQQRC | RDEIRELLGD | GSSITWEHLS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QMPYTTMCIK | ECLRLYAPVV | NISRLLDKPI | TFPDGRSLPA | GITVFINIWA | LHHNPYFWED |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PQVFNPLRFS | RENSEKIHPY | AFIPFSAGLR | NCIGQHFAII | ECKVAVALTL | LRFKLAPDHS |
| 490 | 500 | ||||
| RPPQPVRQVV | LKSKNGIHVF | AKKVC |