P05181
Gene name |
CYP2E1 |
Protein name |
Cytochrome P450 2E1 |
Names |
4-nitrophenol 2-hydroxylase, CYPIIE1, Cytochrome P450-J |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1571 |
EC number |
1.14.13.n7: With NADH or NADPH 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
7 structures for P05181
421 variants for P05181
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs753713804 CA5767430 |
4 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1589952770 CA378830946 |
4 | L>R | No |
ClinGen Ensembl |
|
|
rs1401576094 CA378830947 |
5 | G>R | No |
ClinGen TOPMed |
|
|
CA378830998 rs1338671524 |
8 | V>M | No |
ClinGen gnomAD |
|
|
CA5767433 rs543066971 |
11 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1457901117 CA378831051 |
12 | V>L | No |
ClinGen gnomAD |
|
|
rs1457901117 CA378831054 |
12 | V>M | No |
ClinGen gnomAD |
|
|
rs757352167 CA5767434 |
13 | W>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 13 | W>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM268976 CA5767435 rs563043306 |
14 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1467974326 CA378831117 |
15 | A>V | No |
ClinGen TOPMed |
|
|
rs367957731 CA5767437 |
17 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780358119 CA5767438 |
19 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA378831203 rs1402586895 |
20 | V>M | No |
ClinGen gnomAD |
|
|
rs772430702 CA216856460 CA378831258 |
22 | M>I | No |
ClinGen TOPMed |
|
|
CA378831254 rs1336298850 |
22 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA216856457 rs900694954 |
22 | M>V | No |
ClinGen TOPMed |
|
|
CA378831278 rs1377320782 |
23 | W>* | No |
ClinGen gnomAD |
|
|
rs769059259 CA5767440 |
26 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA216856464 rs59868347 |
26 | V>M | No |
ClinGen TOPMed |
|
|
CA216856466 rs775675704 |
28 | S>G | No |
ClinGen gnomAD |
|
|
rs773963522 CA5767441 |
28 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1259959217 CA378831411 |
29 | S>R | No |
ClinGen gnomAD |
|
|
CA378831422 rs1317965193 |
29 | S>T | No |
ClinGen gnomAD |
|
|
rs1443704595 CA378831478 |
31 | N>I | No |
ClinGen TOPMed |
|
|
rs1260858117 CA378831506 |
33 | P>S | No |
ClinGen gnomAD |
|
|
CA378831521 rs1484033642 |
34 | P>T | No |
ClinGen gnomAD |
|
|
rs747825060 CA5767442 |
36 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs771599544 CA5767443 |
37 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA378831619 rs1428404245 |
37 | F>L | No |
ClinGen gnomAD |
|
|
CA378831639 rs76271067 |
38 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5767444 rs76271067 |
38 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs979091921 CA216856482 |
40 | P>R | No |
ClinGen Ensembl |
|
|
rs759372423 CA5767448 |
43 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378831801 rs527949682 CA5767449 |
44 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1241054527 CA378831836 |
47 | Q>E | No |
ClinGen TOPMed |
|
| TCGA novel | 49 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5767452 rs143746211 |
52 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378831922 rs143746211 |
52 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 53 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750499891 CA5767453 |
54 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA378831957 rs1265920662 |
54 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 56 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA216856502 rs958141259 |
56 | S>F | No |
ClinGen TOPMed |
|
|
CA5767454 rs756596289 |
57 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780517566 CA5767455 |
58 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 59 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA216856516 rs779311330 |
59 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5767458 rs779311330 |
59 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259826192 CA378832042 |
59 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs768536485 CA5767488 |
62 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs773302720 CA5767489 |
62 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs374426412 CA216856959 |
63 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374426412 CA5767490 |
63 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378832115 rs1354838426 |
63 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1294436417 CA378832122 |
64 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA216856962 rs80297454 CA378832124 |
65 | G>R | No |
ClinGen gnomAD |
|
|
CA378832154 rs1324031177 |
69 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5767498 CA5767496 rs35844228 |
72 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs35844228 CA5767497 |
72 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 73 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 73 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5767499 rs764575539 |
74 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1589953328 CA378832185 |
75 | Q>P | No |
ClinGen Ensembl |
|
|
CA378832192 rs1329756728 |
76 | R>C | No |
ClinGen TOPMed |
|
|
rs72559710 VAR_008360 CA5767500 |
76 | R>H | allele CYP2E1*2; reduced activity [UniProt] | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA378832193 rs72559710 |
76 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs72559710 CA216856975 |
76 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA216856977 rs78902616 |
77 | M>V | No |
ClinGen Ensembl |
|
|
CA5767501 rs756973880 |
78 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 79 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378832221 rs1179970516 |
80 | M>I | No |
ClinGen gnomAD |
|
|
rs745393299 CA5767503 |
81 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA378832225 rs1468421016 |
81 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA378832228 rs967340990 |
81 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA378832233 rs1397166316 |
82 | G>D | No |
ClinGen TOPMed |
|
|
CA5767504 rs755735655 |
82 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378832241 rs779825840 |
83 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA378832235 rs1171967427 |
83 | Y>H | No |
ClinGen TOPMed |
|
|
rs749315338 CA5767506 |
84 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA216856986 rs977417894 |
85 | A>V | No |
ClinGen Ensembl |
|
|
rs1381670040 CA378832256 |
86 | V>L | No |
ClinGen gnomAD |
|
|
CA5767509 rs747170540 |
89 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771177357 CA5767510 |
96 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776646693 CA5767511 |
98 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378832432 rs1185071578 |
99 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1185071578 CA378832427 |
99 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA216856995 rs1047104054 |
103 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs543855005 CA5767517 |
104 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs543855005 CA378832512 |
104 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764296273 CA5767516 |
104 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412420588 CA378832518 |
105 | A>T | No |
ClinGen gnomAD |
|
|
CA5767520 rs750140082 |
108 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378832585 rs750140082 |
108 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA216857008 rs911058446 |
109 | H>L | No |
ClinGen TOPMed |
|
|
rs911058446 CA378832598 |
109 | H>R | No |
ClinGen TOPMed |
|
|
rs1589953400 CA378832609 |
110 | R>G | No |
ClinGen Ensembl |
|
|
rs899693063 CA216857009 |
110 | R>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 111 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378832679 rs1339182501 |
113 | G>R | No |
ClinGen gnomAD |
|
|
CA5767549 rs777555849 |
116 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378833708 rs1345641544 |
120 | P>L | No |
ClinGen gnomAD |
|
|
rs770084630 CA5767551 |
120 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5767552 rs779948307 |
121 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1371933261 CA378833755 |
122 | W>* | No |
ClinGen gnomAD |
|
|
CA5767553 rs377658981 |
123 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA216857700 rs56864127 |
126 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs56864127 CA5767555 |
126 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs60719153 CA5767554 COSM204515 |
126 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5767558 rs773718909 |
127 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5767557 rs772509721 |
127 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs905415600 CA378833879 |
130 | L>V | No |
ClinGen gnomAD |
|
|
rs1290001392 CA378833917 |
132 | T>I | No |
ClinGen gnomAD |
|
|
CA5767560 rs148644999 |
133 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 133 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5767561 rs765056111 |
134 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239678934 CA378833944 |
134 | R>W | No |
ClinGen gnomAD |
|
|
CA5767562 rs759059865 |
136 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378834024 rs1456859372 |
138 | M>L | No |
ClinGen gnomAD |
|
|
CA5767564 rs752570058 |
139 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA5767563 rs764780713 |
139 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA378834071 rs1323264151 |
140 | K>R | No |
ClinGen TOPMed |
|
|
CA378834084 rs1465213740 |
141 | Q>* | No |
ClinGen gnomAD |
|
|
CA5767566 rs777502721 |
141 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758334170 CA5767565 |
141 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378834127 rs1311765376 |
142 | G>A | No |
ClinGen gnomAD |
|
|
rs751390447 CA5767567 |
142 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs757050207 CA5767568 |
144 | E>D | No |
ClinGen ExAC |
|
|
CA5767570 rs749539588 |
146 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370419762 CA5767569 |
146 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200955165 CA5767571 |
150 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 151 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5767572 rs779148806 |
152 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA216857719 rs1033628393 |
152 | H>R | No |
ClinGen TOPMed |
|
|
CA378834343 rs1208223809 |
153 | F>V | No |
ClinGen gnomAD |
|
|
CA5767574 rs373427672 |
154 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142907528 CA5767577 |
156 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5767578 rs776328834 |
158 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA216857728 rs958935789 |
159 | R>G | No |
ClinGen TOPMed |
|
|
rs991726526 CA378834463 |
159 | R>S | No |
ClinGen TOPMed |
|
| TCGA novel | 161 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 162 | Q>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759119506 CA5767580 |
162 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353571191 CA378835008 |
164 | Q>* | No |
ClinGen gnomAD |
|
|
CA5767607 rs201167793 |
165 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378835026 rs1314163001 |
165 | P>R | No |
ClinGen gnomAD |
|
|
rs201167793 CA378835020 |
165 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1244383308 CA378835030 |
166 | F>I | No |
ClinGen gnomAD |
|
|
CA378835049 rs1589954708 |
167 | D>A | No |
ClinGen Ensembl |
|
|
rs1320694495 CA378835054 |
167 | D>E | No |
ClinGen TOPMed |
|
| TCGA novel | 167 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1190685941 CA378835044 |
167 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs755208649 CA5767611 |
169 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750206115 CA378835075 |
169 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755208649 CA5767610 |
169 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750206115 CA5767609 |
169 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758535504 CA5767613 |
171 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs139133362 CA378835132 |
172 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5767614 rs566294180 |
172 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM4165439 CA5767617 rs60452492 |
173 | G>C | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5767616 rs60452492 |
173 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs923179921 CA216857831 |
174 | C>S | No |
ClinGen TOPMed |
|
|
rs56040284 CA5767618 |
175 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs548262477 CA5767619 |
175 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs557994567 CA216857836 |
176 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5767621 rs1272538462 |
178 | N>S | No |
ClinGen gnomAD |
|
|
rs6413419 CA378835214 |
179 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_008361 CA5767624 rs6413419 |
179 | V>I | allele CYP2E1*4 [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201427783 CA5767625 |
180 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 182 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5767628 rs76138620 |
182 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318060013 CA378835294 |
183 | I>T | No |
ClinGen gnomAD |
|
|
CA378835312 rs1220862293 |
185 | F>L | No |
ClinGen gnomAD |
|
|
rs1263786649 CA378835323 |
185 | F>L | No |
ClinGen gnomAD |
|
|
rs140500826 CA5767629 |
186 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5767630 rs200871390 |
186 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5767631 rs752959099 |
190 | D>N | No |
ClinGen ExAC |
|
|
CA5767632 rs763286285 |
192 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs764189163 CA5767633 |
194 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1296224047 CA378835486 |
195 | K>M | No |
ClinGen TOPMed |
|
|
rs1365307411 CA378835545 |
198 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 200 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757401077 CA5767635 |
200 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA378835585 rs1564848264 |
200 | M>R | No |
ClinGen Ensembl |
|
|
CA378835740 rs1351088713 |
208 | H>P | No |
ClinGen gnomAD |
|
|
CA216857856 rs772559232 |
208 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA378835744 rs1351088713 |
208 | H>R | No |
ClinGen gnomAD |
|
|
rs750987941 CA5767637 |
208 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1397676621 CA378835762 |
209 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1281657912 CA378835792 |
211 | S>G | No |
ClinGen gnomAD |
|
|
CA5767642 rs778445040 |
212 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA216857865 rs907445349 |
213 | P>R | No |
ClinGen TOPMed |
|
|
rs577159401 CA5767644 |
213 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378835904 rs1194608147 |
216 | Q>K | No |
ClinGen TOPMed |
|
|
rs41299426 CA5767668 VAR_055382 RCV000960923 |
219 | N>D | No |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs78313785 CA216857993 |
219 | N>S | No |
ClinGen Ensembl |
|
|
rs769691101 CA5767669 |
220 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5767672 rs767527110 |
224 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773301045 CA5767673 |
226 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA378836227 rs1433319688 |
227 | Y>* | No |
ClinGen TOPMed |
|
|
CA216858001 rs761129818 |
228 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs761129818 CA5767674 |
228 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs1193278838 CA378836273 |
230 | G>E | No |
ClinGen gnomAD |
|
|
rs766838345 CA5767675 |
230 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA378836285 rs1327451829 |
231 | S>N | No |
ClinGen TOPMed |
|
|
rs1476850745 CA378836327 |
233 | R>S | No |
ClinGen gnomAD |
|
|
rs1245708136 CA378836322 |
233 | R>T | No |
ClinGen gnomAD |
|
|
rs1172122956 CA378836344 |
234 | K>R | No |
ClinGen gnomAD |
|
|
rs754388548 CA5767676 |
235 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs375484572 CA5767677 |
236 | I>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA216858007 rs569948279 |
236 | I>T | No |
ClinGen 1000Genomes |
|
| TCGA novel | 237 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 238 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752221593 CA5767679 |
238 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5767680 rs758094862 |
242 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA378836463 rs369888957 |
244 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs555344732 CA5767683 |
245 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756879881 CA378836483 |
246 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM249734 CA5767684 rs756879881 |
246 | V>M | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA216858018 rs762739956 |
249 | R>S | No |
ClinGen Ensembl |
|
|
rs1352765108 CA378836540 |
251 | K>N | No |
ClinGen gnomAD |
|
|
CA216858020 rs978002991 |
252 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs745886844 CA5767686 |
254 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 255 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769409483 CA5767687 |
257 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA378836581 rs769409483 |
257 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs748268978 CA5767689 |
260 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772311713 CA5767690 |
261 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5767691 rs540609626 |
262 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 262 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5767693 rs766501004 |
263 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs372834832 CA5767692 |
263 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM4165440 rs1390074994 CA378836618 |
264 | D>H | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA5767694 rs776997036 |
265 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs201869253 CA5767695 |
267 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs201869253 CA378836641 |
267 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1271339688 CA378836651 |
268 | C>S | No |
ClinGen TOPMed |
|
|
CA378836662 rs1445693067 |
268 | C>W | No |
ClinGen gnomAD |
|
|
rs912558367 CA216858032 |
271 | V>M | No |
ClinGen TOPMed |
|
|
CA5767697 rs753140012 |
273 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs372404508 CA216858035 |
274 | E>Q | No |
ClinGen ESP TOPMed |
|
|
CA378836863 rs1326260648 |
277 | K>N | No |
ClinGen TOPMed |
|
|
CA378836857 rs1449208969 |
277 | K>R | No |
ClinGen TOPMed |
|
|
CA378836876 rs1190104776 |
278 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA378836873 rs1316414071 |
278 | H>R | No |
ClinGen gnomAD |
|
|
rs1383519539 CA378836890 |
279 | S>R | No |
ClinGen TOPMed |
|
|
CA5767718 rs751192911 |
280 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM204516 CA5767720 rs375149895 |
282 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs749979006 CA5767721 |
282 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs375149895 CA378836916 |
282 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5767722 rs138201091 |
285 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378836956 rs1195094707 |
285 | T>I | No |
ClinGen TOPMed |
|
|
CA378836962 rs1373503578 |
286 | M>V | No |
ClinGen gnomAD |
|
|
rs61710826 CA5767725 |
288 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5767726 rs778681344 |
290 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1589955387 CA378837048 |
290 | T>S | No |
ClinGen Ensembl |
|
|
CA5767728 rs771160948 |
291 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1589955394 CA378837099 |
293 | V>L | No |
ClinGen Ensembl |
|
|
CA5767730 rs745942247 |
294 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA216858248 rs1007026512 |
295 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1264055833 CA378837245 |
299 | A>S | No |
ClinGen gnomAD |
|
|
rs533468318 CA5767734 |
299 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs761515989 CA5767736 |
300 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs750089893 CA5767738 |
301 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA216858256 rs201120875 |
303 | T>N | No |
ClinGen 1000Genomes |
|
|
CA5767740 rs765869376 |
304 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 305 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5767741 rs753706527 |
305 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA378837392 rs1385845866 |
307 | T>I | No |
ClinGen gnomAD |
|
|
rs866605553 CA216858263 |
308 | L>V | No |
ClinGen Ensembl |
|
|
CA5767743 rs764958966 |
309 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs867501702 CA216858265 |
311 | G>R | No |
ClinGen Ensembl |
|
|
COSM1703290 rs374740281 CA5767745 |
312 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs973002990 CA216858270 |
313 | L>Q | No |
ClinGen gnomAD |
|
|
CA216858272 rs142845267 |
314 | I>S | No |
ClinGen ESP |
|
|
CA5767747 rs746145983 |
316 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA5767748 rs756153015 |
318 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1564848820 CA378837613 |
319 | P>A | No |
ClinGen Ensembl |
|
|
CA216858277 rs984244601 |
319 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs915909 RCV000455117 |
321 | I>= | No |
ClinVar dbSNP |
|
|
rs915909 CA378837645 |
321 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378837636 rs1251438410 |
321 | I>V | No |
ClinGen gnomAD |
|
|
COSM1703291 rs138223492 CA5767750 |
322 | E>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5767772 rs773459833 |
324 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA5767773 rs746620834 |
325 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 327 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA216858847 COSM260352 rs969893824 |
328 | E>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA216858849 CA378839109 rs980349044 |
328 | E>D | No |
ClinGen TOPMed |
|
|
CA5767774 rs770517759 |
329 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1337093867 CA378839136 |
330 | D>Y | No |
ClinGen gnomAD |
|
|
rs1212628802 CA378839182 |
332 | V>L | No |
ClinGen TOPMed |
|
|
CA5767778 rs775343042 |
333 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA5767777 rs764799317 |
333 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA378839203 rs1466872326 |
333 | I>V | No |
ClinGen TOPMed |
|
|
rs1233332302 CA378839218 |
334 | G>R | No |
ClinGen gnomAD |
|
|
rs762813109 CA5767779 |
335 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378839234 rs762813109 |
335 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA216858850 rs200228968 |
337 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA5767781 rs759707874 |
337 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5767780 rs759707874 COSM1346961 |
337 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1589956950 CA378839329 |
340 | A>V | No |
ClinGen Ensembl |
|
|
rs61644766 CA5767783 |
341 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5767784 rs754169072 |
342 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408513149 CA378839359 COSM139866 |
343 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1173015245 CA378839385 |
344 | R>K | No |
ClinGen gnomAD |
|
|
CA216858854 rs912887278 |
345 | Q>R | No |
ClinGen TOPMed |
|
|
rs947057503 CA216858855 |
346 | E>D | No |
ClinGen Ensembl |
|
|
rs1355581068 CA378839448 |
347 | M>L | No |
ClinGen gnomAD |
|
|
rs1042802318 CA216858857 |
347 | M>T | No |
ClinGen TOPMed |
|
|
rs753186824 CA5767788 |
349 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5767789 rs150514905 |
350 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378839512 rs1396367463 |
350 | M>V | No |
ClinGen TOPMed |
|
|
CA5767791 rs747302212 |
354 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378839600 rs747302212 |
354 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745528149 CA378839674 |
359 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745528149 COSM204517 CA5767794 |
359 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs780820318 CA5767793 |
359 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769239142 CA5767795 |
361 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs372279263 CA5767796 |
362 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1589956979 CA378839728 |
362 | T>P | No |
ClinGen Ensembl |
|
|
CA378839766 rs1436679183 |
364 | V>A | No |
ClinGen TOPMed |
|
|
rs762908601 CA5767797 |
364 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 365 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_055383 rs41299434 CA216858860 |
366 | S>C | No |
ClinGen UniProt 1000Genomes dbSNP |
|
|
rs1239952047 CA378839849 |
367 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 368 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768448978 CA5767798 |
369 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA216858861 rs1005539701 |
371 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5767799 rs59981143 |
373 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA216858863 rs370530375 |
374 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370530375 CA5767800 |
374 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5767801 rs767486762 |
374 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5767803 rs759847516 |
375 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754046416 CA5767802 |
375 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs765355752 CA5767804 |
378 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA378840212 rs752748963 |
380 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs752748963 CA5767805 |
380 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA378840239 rs1433121603 |
381 | Y>H | No |
ClinGen gnomAD |
|
|
CA378840311 rs1437497706 |
382 | L>F | No |
ClinGen TOPMed |
|
|
rs752179109 CA5767809 |
383 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5767811 rs199856651 |
385 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378840637 rs1327701553 |
388 | V>A | No |
ClinGen gnomAD |
|
|
rs1425889399 CA378840635 |
388 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs55897648 VAR_008362 CA5767824 |
389 | V>I | allele CYP2E1*3 [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs55897648 CA5767825 |
389 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 390 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757788272 CA5767826 |
393 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA378840722 rs1223857405 |
394 | D>E | No |
ClinGen gnomAD |
|
|
rs60207639 CA5767827 |
394 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000911448 CA5767828 rs59656378 |
396 | V>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA216858938 rs1027409770 |
398 | Y>F | No |
ClinGen TOPMed |
|
|
CA5767829 rs756521777 |
400 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs779561569 CA5767830 |
401 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs749034745 CA5767831 |
405 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA216858943 rs200177135 |
406 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA378840876 rs1352233539 |
407 | E>G | No |
ClinGen TOPMed |
|
|
CA378840881 rs1304810209 |
408 | K>E | No |
ClinGen gnomAD |
|
|
CA378840890 rs1414127010 |
409 | F>L | No |
ClinGen TOPMed |
|
|
CA216858947 rs892558134 |
409 | F>L | No |
ClinGen Ensembl |
|
|
rs1362640892 CA378840911 |
412 | E>* | No |
ClinGen gnomAD |
|
|
CA216858949 rs369048851 |
413 | H>R | No |
ClinGen Ensembl |
|
|
CA378840951 rs1304386663 |
416 | N>S | No |
ClinGen TOPMed |
|
|
CA5767833 rs57702102 |
418 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1328203136 CA378840988 |
420 | K>E | No |
ClinGen gnomAD |
|
|
rs748046628 CA5767834 |
420 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2515641 RCV001707691 RCV000455849 |
421 | F>= | No |
ClinVar dbSNP |
|
|
CA216858956 CA378841006 rs2515641 |
421 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 423 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1564850279 CA378841021 |
423 | Y>H | No |
ClinGen Ensembl |
|
|
CA5767837 rs142767992 |
424 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs151041343 CA5767838 |
429 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1182003917 CA378841971 |
435 | R>* | No |
ClinGen TOPMed |
|
|
CA5767863 rs761257042 |
436 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1471904078 CA378842021 |
437 | C>F | No |
ClinGen TOPMed |
|
|
rs1254397224 CA378842056 |
439 | G>R | No |
ClinGen TOPMed |
|
|
rs1196807939 CA378842082 |
440 | E>G | No |
ClinGen TOPMed |
|
|
rs754256199 CA5767865 |
443 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA5767866 rs140969399 |
444 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764917641 CA5767868 |
444 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs764917641 CA5767867 |
444 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs764917641 CA5767869 |
444 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs199855848 CA5767870 |
445 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1564850583 CA378842214 |
447 | L>F | No |
ClinGen Ensembl |
|
|
CA378842269 rs1383662089 |
450 | L>S | No |
ClinGen gnomAD |
|
|
rs746030618 CA216859152 |
452 | C>S | No |
ClinGen Ensembl |
|
|
CA378842331 rs1297297780 |
453 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs369066427 CA216859153 |
453 | A>V | No |
ClinGen ESP TOPMed |
|
|
rs1564850601 CA378842368 |
456 | Q>K | No |
ClinGen Ensembl |
|
|
rs28969387 RCV000965828 VAR_024727 CA5767872 |
457 | H>L | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1266958540 CA378842410 |
457 | H>Y | No |
ClinGen TOPMed |
|
|
rs1589957781 CA378842497 |
462 | P>S | No |
ClinGen Ensembl |
|
|
CA378842523 rs1395292003 |
464 | V>A | No |
ClinGen TOPMed |
|
|
COSM1560867 rs187941410 CA5767874 |
464 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5767875 rs769536455 |
465 | D>V | No |
ClinGen ExAC TOPMed |
|
|
rs748372752 CA5767877 |
466 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5767876 rs779104532 |
466 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1256621896 CA378842569 |
467 | K>N | No |
ClinGen gnomAD |
|
|
rs1203554290 CA378842581 |
468 | D>G | No |
ClinGen gnomAD |
|
|
rs1485596221 CA378842574 |
468 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 468 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5767879 rs199954662 COSM1346963 |
470 | D>N | Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs199954662 COSM1202861 CA5767880 |
470 | D>Y | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs771433748 CA5767881 |
471 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 471 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378842662 rs1393164404 |
474 | I>L | No |
ClinGen gnomAD |
|
|
CA216859165 rs945150523 |
475 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1589957815 CA378842686 |
475 | H>Y | No |
ClinGen Ensembl |
|
|
rs1176734765 CA378842698 |
476 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA378842719 rs1453966988 |
477 | G>R | No |
ClinGen gnomAD |
|
|
CA216859167 rs1041844199 |
477 | G>V | No |
ClinGen TOPMed |
|
|
CA378842778 rs1182952256 |
483 | P>S | No |
ClinGen TOPMed |
|
|
CA378842786 rs1451003704 |
484 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA5767882 rs55982231 |
484 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1451003704 CA378842784 |
484 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA216859171 rs750408412 |
486 | K>E | No |
ClinGen Ensembl |
|
|
CA378842832 rs1436249380 |
488 | C>W | No |
ClinGen gnomAD |
|
|
rs1184993512 CA378842828 |
488 | C>Y | No |
ClinGen TOPMed |
|
|
CA378842860 rs1325698643 |
491 | P>L | No |
ClinGen gnomAD |
|
|
CA5767884 rs759928543 |
492 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs147916524 CA5767885 COSM1242169 |
492 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs752341899 CA5767886 |
493 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with P05181
1 regional properties for P05181
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Cytochrome P450, conserved site | 430 - 439 | IPR017972 |
Functions
| Description | ||
|---|---|---|
| EC Number | 1.14.13.n7 | With NADH or NADPH 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 | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| intrinsic component of endoplasmic reticulum membrane | The component of the endoplasmic reticulum membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. |
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
15 GO annotations of molecular function
| Name | Definition |
|---|---|
| 4-nitrophenol 2-monooxygenase activity | Catalysis of the reaction: 4-nitrophenol + H(+) + NADH + O(2) = 4-nitrocatechol + H(2)O + NAD(+). |
| arachidonic acid epoxygenase activity | Catalysis of an NADPH- and oxygen-dependent reaction that converts arachidonic acid to a cis-epoxyeicosatrienoic acid. |
| aromatase activity | Catalysis of the reduction of an aliphatic ring to yield an aromatic ring. |
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| heme binding | Binding to a heme, a compound composed of iron complexed in a porphyrin (tetrapyrrole) ring. |
| Hsp70 protein binding | Binding to a Hsp70 protein, heat shock proteins around 70kDa in size. |
| Hsp90 protein binding | Binding to Hsp90 proteins, any of a group of heat shock proteins around 90kDa in size. |
| iron ion binding | Binding to an iron (Fe) ion. |
| long-chain fatty acid omega-1 hydroxylase activity | Catalysis of the reaction: an (omega-1)-ethyl long-chain fatty acid + O2 + reduced = an (omega-1)-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. |
| oxidoreductase activity | Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. |
| oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen | Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from NADH or NADPH and one other donor, and one atom of oxygen is incorporated into one donor. |
| oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen | Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from reduced flavin or flavoprotein and one other donor, and one atom of oxygen is incorporated into one donor. |
| oxygen binding | Binding to oxygen (O2). |
| steroid hydroxylase activity | Catalysis of the formation of a hydroxyl group on a steroid by incorporation of oxygen from O2. |
18 GO annotations of biological process
| Name | Definition |
|---|---|
| 4-nitrophenol metabolic process | The chemical reactions and pathways involving 4-nitrophenol, a nitroaromatic compound which is used in the production of dyes, leather treatment agents, fungicides and as an intermediate in the production of the insecticide parathion. |
| benzene metabolic process | The chemical reactions and pathways involving benzene, C6H6, a volatile, very inflammable liquid, contained in the naphtha produced by the destructive distillation of coal, from which it is separated by fractional distillation. |
| carbon tetrachloride metabolic process | The chemical reactions and pathways involving carbon tetrachloride, a toxic, carcinogenic compound which is used as a general solvent in industrial degreasing operations. It is also used as grain fumigant and a chemical intermediate in the production of refrigerants. |
| epoxygenase P450 pathway | The chemical reactions and pathways by which arachidonic acid is converted to other compounds including epoxyeicosatrienoic acids and dihydroxyeicosatrienoic acids. |
| halogenated hydrocarbon metabolic process | The chemical reactions and pathways involving halogenated hydrocarbons, compounds derived from hydrocarbons by replacing one or more hydrogen atoms with halogen atoms. Halogens include fluorine, chlorine, bromine and iodine. |
| heterocycle metabolic process | The chemical reactions and pathways involving heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). |
| lipid hydroxylation | The covalent attachment of a hydroxyl group to one or more fatty acids in a lipid. |
| long-chain fatty acid biosynthetic process | The chemical reactions and pathways resulting in the formation of long-chain fatty acids, any fatty acid with a chain length between C13 and C22. |
| long-chain fatty acid metabolic process | The chemical reactions and pathways involving long-chain fatty acids, A long-chain fatty acid is a fatty acid with a chain length between C13 and C22. |
| monoterpenoid metabolic process | The chemical reactions and pathways involving monoterpenoid compounds, terpenoids having a C10 skeleton. |
| organic acid metabolic process | The chemical reactions and pathways involving organic acids, any acidic compound containing carbon in covalent linkage. |
| response to bacterium | 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 from a bacterium. |
| response to ethanol | 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 an ethanol stimulus. |
| response to organonitrogen compound | 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 an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. |
| response to ozone | 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 ozone stimulus. |
| steroid metabolic process | The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. |
| triglyceride metabolic process | The chemical reactions and pathways involving triglyceride, any triester of glycerol. The three fatty acid residues may all be the same or differ in any permutation. Triglycerides are important components of plant oils, animal fats and animal plasma lipoproteins. |
| xenobiotic metabolic process | The chemical reactions and pathways involving a xenobiotic compound, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
52 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q0IIF9 | CYP2U1 | Cytochrome P450 2U1 | Bos taurus (Bovine) | PR |
| O18963 | CYP2E1 | Cytochrome P450 2E1 | Bos taurus (Bovine) | PR |
| P12394 | CYP17A1 | Steroid 17-alpha-hydroxylase/17,20 lyase | Gallus gallus (Chicken) | PR |
| Q95078 | Cyp18a1 | Cytochrome P450 18a1 | Drosophila melanogaster (Fruit fly) | PR |
| P05177 | CYP1A2 | Cytochrome P450 1A2 | Homo sapiens (Human) | PR |
| P05093 | CYP17A1 | Steroid 17-alpha-hydroxylase/17,20 lyase | Homo sapiens (Human) | PR |
| P51589 | CYP2J2 | Cytochrome P450 2J2 | Homo sapiens (Human) | PR |
| P10632 | CYP2C8 | Cytochrome P450 2C8 | Homo sapiens (Human) | PR |
| P33260 | CYP2C18 | Cytochrome P450 2C18 | Homo sapiens (Human) | PR |
| Q7Z449 | CYP2U1 | Cytochrome P450 2U1 | Homo sapiens (Human) | PR |
| Q9D816 | Cyp2c55 | Cytochrome P450 2C55 | Mus musculus (Mouse) | PR |
| P27786 | Cyp17a1 | Steroid 17-alpha-hydroxylase/17,20 lyase | Mus musculus (Mouse) | PR |
| O54749 | Cyp2j5 | Cytochrome P450 2J5 | Mus musculus (Mouse) | PR |
| O54750 | Cyp2j6 | Cytochrome P450 2J6 | Mus musculus (Mouse) | PR |
| P24456 | Cyp2d10 | Cytochrome P450 2D10 | Mus musculus (Mouse) | PR |
| Q9CX98 | Cyp2u1 | Cytochrome P450 2U1 | Mus musculus (Mouse) | PR |
| P24457 | Cyp2d11 | Cytochrome P450 2D11 | Mus musculus (Mouse) | PR |
| P79383 | CYP2E1 | Cytochrome P450 2E1 | Sus scrofa (Pig) | PR |
| P33273 | Cyp2c55 | Cytochrome P450 2C55 | Rattus norvegicus (Rat) | PR |
| P24470 | Cyp2c23 | Cytochrome P450 2C23 | Rattus norvegicus (Rat) | PR |
| P11715 | Cyp17a1 | Steroid 17-alpha-hydroxylase/17,20 lyase | Rattus norvegicus (Rat) | PR |
| P12939 | Cyp2d10 | Cytochrome P450 2D10 | Rattus norvegicus (Rat) | PR |
| P10633 | Cyp2d1 | Cytochrome P450 2D1 | Rattus norvegicus (Rat) | PR |
| P05179 | Cyp2c7 | Cytochrome P450 2C7 | Rattus norvegicus (Rat) | PR |
| P12938 | Cyp2d3 | Cytochrome P450 2D3 | Rattus norvegicus (Rat) | PR |
| O35293 | Cyp2f2 | Cytochrome P450 2F2 | Rattus norvegicus (Rat) | PR |
| P20814 | Cyp2c13 | Cytochrome P450 2C13, male-specific | Rattus norvegicus (Rat) | PR |
| P05182 | Cyp2e1 | Cytochrome P450 2E1 | Rattus norvegicus (Rat) | PR |
| Q8HYM9 | CYP17A1 | Steroid 17-alpha-hydroxylase/17,20 lyase | Macaca mulatta (Rhesus macaque) | PR |
| Q6YV88 | CYP71Z7 | Ent-cassadiene hydroxylase | Oryza sativa subsp japonica (Rice) | PR |
| A3A871 | CYP71Z6 | Ent-isokaurene C2/C3-hydroxylase | Oryza sativa subsp japonica (Rice) | PR |
| Q7X7X4 | CYP99A2 | Cytochrome P450 99A2 | Oryza sativa subsp japonica (Rice) | PR |
| O48957 | CYP99A1 | Cytochrome P450 CYP99A1 | Sorghum bicolor (Sorghum) (Sorghum vulgare) | PR |
| Q42797 | CYP73A11 | Trans-cinnamate 4-monooxygenase | Glycine max (Soybean) (Glycine hispida) | PR |
| Q9XHC6 | CYP93E1 | Beta-amyrin 24-hydroxylase | Glycine max (Soybean) (Glycine hispida) | PR |
| O81971 | CYP71D9 | Cytochrome P450 71D9 | Glycine max (Soybean) (Glycine hispida) | PR |
| O48922 | CYP98A2 | Cytochrome P450 98A2 | Glycine max (Soybean) (Glycine hispida) | PR |
| O49340 | CYP71A12 | Cytochrome P450 71A12 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O64638 | CYP76C3 | Cytochrome P450 76C3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P58049 | CYP71B11 | Cytochrome P450 71B11 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P58050 | CYP71B13 | Cytochrome P450 71B13 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q96514 | CYP71B7 | Cytochrome P450 71B7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9CA61 | CYP98A8 | Cytochrome P450 98A8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LTM0 | CYP71B23 | Cytochrome P450 71B23 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LTM6 | CYP71B17 | Cytochrome P450 71B17 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LTM7 | CYP71B16 | Cytochrome P450 71B16 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LVD2 | CYP71B10 | Cytochrome P450 71B10 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SAE4 | CYP71B29 | Cytochrome P450 71B29 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SRQ1 | CYP89A9 | Cytochrome P450 89A9 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZU07 | CYP71B12 | Cytochrome P450 71B12 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O64636 | CYP76C1 | Cytochrome P450 76C1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q949U1 | CYP79F1 | Dihomomethionine N-hydroxylase | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSALGVTVAL | LVWAAFLLLV | SMWRQVHSSW | NLPPGPFPLP | IIGNLFQLEL | KNIPKSFTRL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AQRFGPVFTL | YVGSQRMVVM | HGYKAVKEAL | LDYKDEFSGR | GDLPAFHAHR | DRGIIFNNGP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TWKDIRRFSL | TTLRNYGMGK | QGNESRIQRE | AHFLLEALRK | TQGQPFDPTF | LIGCAPCNVI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ADILFRKHFD | YNDEKFLRLM | YLFNENFHLL | STPWLQLYNN | FPSFLHYLPG | SHRKVIKNVA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EVKEYVSERV | KEHHQSLDPN | CPRDLTDCLL | VEMEKEKHSA | ERLYTMDGIT | VTVADLFFAG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TETTSTTLRY | GLLILMKYPE | IEEKLHEEID | RVIGPSRIPA | IKDRQEMPYM | DAVVHEIQRF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ITLVPSNLPH | EATRDTIFRG | YLIPKGTVVV | PTLDSVLYDN | QEFPDPEKFK | PEHFLNENGK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FKYSDYFKPF | STGKRVCAGE | GLARMELFLL | LCAILQHFNL | KPLVDPKDID | LSPIHIGFGC |
| 490 | |||||
| IPPRYKLCVI | PRS |