P13584
PR
Gene name |
CYP4B1 |
Protein name |
Cytochrome P450 4B1 |
Names |
CYPIVB1, Cytochrome P450-HP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1580 |
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 P13584
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P13584-F1 | Predicted | AlphaFoldDB |
488 variants for P13584
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1480230308 CA340222717 |
2 | V>A | No |
ClinGen gnomAD |
|
|
CA21964046 rs915276757 |
2 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA838627 rs746767776 |
3 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340222721 rs1197765755 |
3 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
RCV000901930 rs111476033 CA838628 |
5 | F>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs781172722 CA838629 |
6 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340222739 rs781172722 |
6 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA838632 rs775704371 |
11 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA21964081 rs745623064 |
12 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| rs1344545131 | 12 | S>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768867681 CA838634 |
13 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA340222784 rs1362425745 |
13 | L>S | No |
ClinGen gnomAD |
|
|
rs774463909 CA838635 |
14 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA340222800 rs1164911847 |
16 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 16 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340222807 rs1292551804 |
17 | A>P | No |
ClinGen gnomAD |
|
|
rs1490263019 CA340222811 |
17 | A>V | No |
ClinGen gnomAD |
|
|
CA340222819 rs1244023490 |
19 | G>R | No |
ClinGen gnomAD |
|
|
rs1475950256 CA340222835 |
21 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA838638 rs773616192 |
23 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA838637 rs555992529 |
23 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761158779 CA838639 |
24 | L>F | No |
ClinGen ExAC |
|
|
CA340222851 rs1557482606 |
24 | L>S | No |
ClinGen Ensembl |
|
|
CA838641 rs752143159 |
25 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA838640 rs183371507 |
25 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA21964113 rs200131677 |
26 | F>L | No |
ClinGen 1000Genomes |
|
|
CA21964115 rs367935135 |
27 | L>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1422161353 CA340222892 |
31 | H>Y | No |
ClinGen gnomAD |
|
|
CA21964131 rs752554919 |
32 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA838644 rs553628563 |
35 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs55672106 CA838643 |
35 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340222931 rs1357727793 |
38 | T>A | No |
ClinGen TOPMed |
|
|
CA340222935 rs1314239399 |
38 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1303632928 CA340222948 COSM910360 |
40 | A>V | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1243787367 CA340222950 |
41 | K>E | No |
ClinGen gnomAD |
|
|
rs1286623668 CA340222957 |
42 | A>T | No |
ClinGen gnomAD |
|
|
rs1325656254 CA340222967 |
43 | M>R | No |
ClinGen TOPMed |
|
|
CA21964199 COSM189790 rs958474459 |
43 | M>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA340222975 rs1240685987 |
44 | D>G | No |
ClinGen gnomAD |
|
|
rs745721776 CA838647 |
45 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs576666017 CA21964228 |
47 | P>A | No |
ClinGen Ensembl |
|
|
rs1387454432 CA340222998 |
47 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 47 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340222999 CA838649 rs780156530 |
48 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA340223006 rs1038525522 |
49 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1038525522 CA21964250 |
49 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1013006446 CA21964249 |
49 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1442243201 CA340223013 |
50 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs768653507 CA838651 |
51 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159782080 CA340223014 |
51 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs768653507 CA838652 |
51 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772338414 CA838654 |
52 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA838655 COSM230854 rs773563294 |
53 | W>* | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA340223030 COSM230854 rs1157663920 |
53 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA838658 rs766821883 |
56 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA838659 rs777033858 |
57 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA340223064 rs1557482959 |
58 | A>V | No |
ClinGen Ensembl |
|
|
rs1445981437 CA340223067 |
59 | L>F | No |
ClinGen gnomAD |
|
|
CA838660 rs760128967 |
59 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA21964307 rs954937628 |
60 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA340223971 rs1306246124 |
61 | I>M | No |
ClinGen gnomAD |
|
|
rs761418263 CA838682 |
64 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA838683 rs200083913 |
64 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200083913 CA838684 |
64 | T>M | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 66 | S>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA838686 rs371550401 |
66 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753724766 CA838687 |
68 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 70 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1265152453 CA340224091 |
71 | V>L | No |
ClinGen Ensembl |
|
|
rs778917114 CA838689 |
72 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778917114 CA340224103 |
72 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA838690 rs752663331 |
73 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340224114 rs752663331 |
73 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA838691 rs74072924 |
75 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA838693 rs777868870 |
76 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs747209225 CA838694 |
77 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs56059446 CA838695 |
78 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs56059446 CA838696 |
78 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770139193 CA340224194 |
79 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA838699 rs776085141 |
80 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA21973515 rs942315525 |
82 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA838700 COSM910361 rs761368826 |
86 | G>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA340224296 rs1425337165 |
87 | Q>R | No |
ClinGen gnomAD |
|
|
CA838701 rs771679726 |
88 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340224321 rs1384338168 |
89 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA340224323 rs1384338168 |
89 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA340224316 rs1388776686 |
89 | I>V | No |
ClinGen gnomAD |
|
|
CA838704 rs150307866 |
95 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340224397 rs1355569055 |
95 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA838708 rs187612663 |
96 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA838707 rs765044023 |
96 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA838706 rs759391438 |
96 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs764145436 CA838710 |
97 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA838711 rs751700954 |
98 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416474225 CA340224517 |
103 | V>A | No |
ClinGen TOPMed |
|
|
CA838713 rs781487591 |
105 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA21973582 rs928666636 |
105 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs138753850 CA838714 |
106 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756535167 CA838715 |
106 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756535167 CA340224545 |
106 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780326518 CA838716 CA21973593 |
107 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340224560 rs1164158752 |
108 | D>Y | No |
ClinGen gnomAD |
|
|
CA340224946 rs766488561 |
110 | K>E | No |
ClinGen gnomAD |
|
|
CA21973738 rs766488561 |
110 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 111 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA21973740 VAR_055377 rs45559437 |
111 | A>V | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1411420196 CA340224968 |
112 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1450137102 CA340224979 |
113 | D>E | No |
ClinGen gnomAD |
|
|
rs1011827775 CA21973743 |
114 | V>A | No |
ClinGen TOPMed |
|
|
CA340224994 rs1179013072 |
115 | Y>C | No |
ClinGen gnomAD |
|
|
rs1417029938 CA340225029 |
118 | F>V | No |
ClinGen TOPMed |
|
|
CA838738 rs746470908 |
121 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779577301 CA838737 |
121 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs112395788 CA21973746 |
121 | W>L | No |
ClinGen Ensembl |
|
|
CA838739 rs141806770 |
122 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA21974825 rs867178708 COSM681883 |
123 | G>E | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs754146563 CA838770 |
124 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377363512 CA838771 |
125 | G>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA838772 rs148753850 |
125 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340225204 rs1470237575 |
128 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA340225201 rs1470237575 COSM910362 |
128 | V>I | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA340225202 rs1470237575 |
128 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA340225212 rs778152218 COSM1687625 |
129 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs944766010 CA340225213 |
129 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs944766010 CA21974865 |
129 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs778152218 CA838775 |
129 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376850847 CA838776 |
130 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340225243 rs1351323485 |
132 | P>L | No |
ClinGen gnomAD |
|
|
rs760074010 CA21974926 |
133 | K>E | No |
ClinGen TOPMed |
|
|
CA340225249 rs1228234008 |
133 | K>R | No |
ClinGen gnomAD |
|
|
CA838779 rs370962235 |
134 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA838780 rs200388090 |
134 | W>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA21974946 rs1039093310 |
135 | L>S | No |
ClinGen TOPMed |
|
|
CA340225277 rs1487523528 |
136 | Q>E | No |
ClinGen TOPMed |
|
|
rs748645013 CA838781 |
138 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA838782 rs747904682 COSM1492069 |
138 | R>H | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 140 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340225332 rs1233169608 |
141 | L>P | No |
ClinGen gnomAD |
|
|
CA340225342 rs1472043888 |
142 | T>I | No |
ClinGen gnomAD |
|
|
CA21974973 rs868081180 |
143 | P>H | No |
ClinGen Ensembl |
|
|
rs773046536 CA838784 |
143 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773046536 CA340225346 |
143 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760798045 CA838785 |
144 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1557497002 CA340225391 |
147 | Y>C | No |
ClinGen Ensembl |
|
|
rs144157811 CA838786 |
148 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs144157811 CA340225405 |
148 | D>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA21974982 rs779690505 |
152 | P>L | No |
ClinGen Ensembl |
|
|
rs539678720 CA838788 |
153 | Y>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340225467 rs1330969028 |
155 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs765556869 CA838789 |
155 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1403226616 CA340225478 |
156 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA340225494 rs1313105495 |
157 | F>V | No |
ClinGen TOPMed |
|
|
CA838791 rs763248643 |
158 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286630446 CA340225510 |
159 | E>K | No |
ClinGen gnomAD |
|
|
rs765862813 COSM3400850 CA838795 |
162 | R>C | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs753414725 CA838796 |
162 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs753414725 CA340225556 |
162 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340225550 rs765862813 |
162 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA340225565 rs1215859475 |
163 | I>S | No |
ClinGen gnomAD |
|
|
rs778444472 CA838798 |
164 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA21975034 rs911767798 CA340225569 |
164 | M>L | No |
ClinGen gnomAD |
|
|
rs754558644 COSM535430 CA838797 |
164 | M>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs911767798 CA21975033 |
164 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 166 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 166 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA838817 rs752264492 |
167 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs145508204 CA838819 |
169 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA838818 rs367647904 |
169 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA838820 rs746801952 |
170 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA340225931 rs1389059660 |
172 | A>P | No |
ClinGen gnomAD |
|
|
rs144896315 CA838823 |
173 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA838822 rs144896315 |
173 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs4646487 CA838821 VAR_018357 |
173 | R>W | allele CYP4B1*3 and allele CYP4B1*6 [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1316500538 CA340225943 |
174 | E>D | No |
ClinGen gnomAD |
|
|
rs775686764 CA838825 |
174 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA21975695 rs992154095 |
175 | G>C | No |
ClinGen TOPMed |
|
| TCGA novel | 175 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA838826 rs749455745 |
176 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA340225960 rs1243643974 |
177 | S>F | No |
ClinGen gnomAD |
|
|
CA340225957 rs1557498270 |
177 | S>T | No |
ClinGen Ensembl |
|
|
rs1243643974 CA340225961 |
177 | S>Y | No |
ClinGen gnomAD |
|
|
rs1263276511 CA340225976 |
179 | D>E | No |
ClinGen gnomAD |
|
|
rs867227396 CA21975719 |
179 | D>G | No |
ClinGen Ensembl |
|
|
CA340225971 rs1487391289 |
179 | D>N | No |
ClinGen TOPMed |
|
|
CA340225996 rs1352578970 |
182 | C>Y | No |
ClinGen gnomAD |
|
|
rs762179232 CA838830 |
183 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs774633073 CA838828 COSM1503257 |
183 | D>N | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1344466703 CA340226007 |
184 | V>M | No |
ClinGen TOPMed |
|
|
rs773743194 CA838831 |
185 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA340226016 rs773743194 |
185 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA838832 rs761287949 |
186 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs764633538 CA838833 |
187 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA340226027 rs1424428588 |
187 | M>L | No |
ClinGen gnomAD |
|
|
CA340226026 rs1424428588 |
187 | M>V | No |
ClinGen gnomAD |
|
|
rs752316206 CA838834 COSM464709 |
188 | A>V | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA838836 rs763816455 |
191 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs751346380 CA838837 |
192 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs931497782 CA21975757 |
193 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA340226079 rs1397920807 |
195 | C>G | No |
ClinGen TOPMed |
|
|
CA838838 rs375763149 |
195 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21975778 rs751942342 |
199 | R>T | No |
ClinGen gnomAD |
|
|
rs1287463311 CA340226113 |
200 | G>E | No |
ClinGen gnomAD |
|
|
CA340226110 rs1228820060 |
200 | G>R | No |
ClinGen gnomAD |
|
|
CA340226125 rs1334456009 |
202 | T>A | No |
ClinGen TOPMed |
|
|
rs528993032 CA21975805 |
203 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs528993032 CA838842 |
203 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340226141 rs1199923617 |
205 | G>D | No |
ClinGen gnomAD |
|
|
rs141939643 CA838843 |
205 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1254420492 CA340226144 |
206 | H>N | No |
ClinGen gnomAD |
|
|
rs1473679526 CA340226147 |
206 | H>P | No |
ClinGen gnomAD |
|
|
rs1183418655 CA340226155 |
207 | R>K | No |
ClinGen gnomAD |
|
|
CA340226233 rs1385032551 |
209 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA21976204 rs61011955 |
210 | S>N | No |
ClinGen Ensembl |
|
|
CA838864 rs200120700 |
212 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1436183169 CA340226274 |
212 | Y>H | No |
ClinGen TOPMed |
|
|
CA838867 rs748352207 |
215 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs747410215 CA838870 |
217 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs139750942 CA838869 |
217 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 220 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376687142 CA838872 |
222 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340226401 rs1189985796 |
223 | Q>* | No |
ClinGen gnomAD |
|
|
CA838873 rs368797537 |
224 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA838874 rs144659997 |
225 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA838877 rs750366022 |
225 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750366022 CA340226440 |
225 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144659997 CA838875 |
225 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767284537 CA340226459 CA838878 |
227 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
rs1265141275 CA340226480 |
229 | F>I | No |
ClinGen TOPMed |
|
|
rs772826245 CA838879 |
232 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1387978031 CA340226528 |
232 | H>Y | No |
ClinGen gnomAD |
|
|
rs766186524 CA838881 |
236 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA838880 rs760541832 |
236 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1569902149 CA340226641 |
240 | T>P | No |
ClinGen Ensembl |
|
|
CA838883 rs753786936 |
240 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340226658 rs1435993941 |
241 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA340226656 rs1435993941 |
241 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA340226667 rs752844107 |
242 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs545399334 CA838885 |
242 | H>R | No |
ClinGen ExAC TOPMed |
|
|
rs754961936 CA838884 |
242 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM2150474 rs758555438 CA838887 |
244 | R>C | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs139993247 CA838888 |
244 | R>H | Variant assessed as Somatic; 4.629e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA838890 rs200200785 COSM1734664 |
245 | R>C | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs372884535 CA838891 |
245 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000908843 CA838892 rs151203772 |
246 | F>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs773929688 CA838894 |
248 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773929688 CA340226714 |
248 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA838893 rs770487913 |
248 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1425695124 CA340226716 |
249 | A>T | No |
ClinGen TOPMed |
|
|
CA340226721 rs1412550542 |
249 | A>V | No |
ClinGen gnomAD |
|
|
CA838897 rs377113040 |
250 | C>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs771803989 CA838896 |
250 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs965932787 CA21976395 |
252 | V>A | No |
ClinGen Ensembl |
|
|
CA340226738 rs1389341035 |
252 | V>L | No |
ClinGen gnomAD |
|
|
CA340226744 rs760285398 |
253 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456660113 CA340226743 |
253 | A>S | No |
ClinGen gnomAD |
|
|
rs760285398 CA838898 |
253 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21976403 rs766177247 |
254 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343511714 CA340226751 |
254 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1483281640 CA340226770 |
255 | D>G | No |
ClinGen TOPMed |
|
|
rs920979437 CA21976444 |
257 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA838924 rs762922694 |
258 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs776351257 CA340226803 |
258 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776351257 CA838900 |
258 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776351257 CA340226805 |
258 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21976619 rs888414581 |
259 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs200462383 CA21976622 |
260 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 263 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138537119 CA838926 |
264 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_048453 RCV000963757 CA838925 rs45446505 |
264 | R>W | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs767645233 CA838928 |
266 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs780606115 CA838931 |
272 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1274711215 CA340227028 |
273 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
VAR_055378 rs45578838 CA838934 |
274 | R>Q | Variant assessed as Somatic; 0.0005089 impact. [NCI-TCGA] | No |
ClinGen UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs111807240 CA838933 |
274 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770562848 CA838936 |
275 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 276 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1451931085 CA340227081 |
277 | I>V | No |
ClinGen gnomAD |
|
|
rs559516007 CA838938 |
279 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs141452762 CA838942 |
280 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA838941 rs141452762 |
280 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs377170127 CA838940 |
280 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774429812 CA838943 |
281 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs45463299 CA838945 |
282 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA838946 rs750642727 |
284 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340227179 rs1393333501 |
284 | D>V | No |
ClinGen gnomAD |
|
|
CA340227217 rs1369422305 |
287 | D>V | No |
ClinGen gnomAD |
|
|
CA838948 rs376093889 |
288 | I>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1188137961 CA340227268 |
291 | G>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 291 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756688395 CA838953 |
293 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM189798 CA838951 rs139611523 |
293 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
RCV000455155 rs3215983 |
294 | D>missing | No |
ClinVar dbSNP |
|
|
CA21977319 CA21977318 rs55835239 |
294 | D>E | No |
ClinGen Ensembl |
|
|
rs1569907929 CA340227390 |
294 | D>G | No |
ClinGen Ensembl |
|
|
CA838974 rs372816291 |
298 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA340227427 rs1363717411 |
299 | K>E | No |
ClinGen gnomAD |
|
|
CA838975 rs746996053 |
300 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375248128 CA838977 |
303 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 304 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA838978 rs749071537 |
305 | L>F | No |
ClinGen ExAC gnomAD |
|
|
COSM1243194 rs778817288 CA838980 |
306 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA838979 rs754700084 |
306 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144531409 COSM328058 CA838981 |
307 | A>T | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs201173499 CA340227479 |
308 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1237036677 CA340227483 |
308 | E>D | No |
ClinGen gnomAD |
|
|
CA838982 rs201173499 |
308 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340227490 rs1257853482 |
309 | V>G | No |
ClinGen gnomAD |
|
|
rs773363257 CA340227498 |
310 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1255602659 CA340227504 |
311 | T>I | No |
ClinGen gnomAD |
|
|
rs1260319205 CA340227511 |
312 | F>L | No |
ClinGen TOPMed |
|
|
CA838985 rs771233725 |
313 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA838986 rs776958699 |
314 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1417831392 CA340227539 |
316 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA838987 rs759846966 |
317 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA838988 rs765503290 |
319 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1372014969 CA340227566 |
320 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA340227567 rs1372014969 |
320 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA340227568 rs1410250390 |
321 | T>P | No |
ClinGen gnomAD |
|
|
rs45467195 VAR_018358 CA838990 |
322 | S>G | allele CYP4B1*4 [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA838991 rs764596873 |
323 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA838993 COSM3419286 rs755652341 |
326 | W>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
VAR_048454 rs12094024 CA838994 RCV000974839 |
329 | Y>S | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA838995 VAR_018359 rs2297810 |
331 | M>I | allele CYP4B1*2, allele CYP4B1*7 and allele CYP4B1*5 [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA340227644 rs1298496815 |
332 | A>T | No |
ClinGen TOPMed |
|
|
rs1258116724 CA340227680 |
337 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1352383552 CA340227679 |
337 | H>Y | No |
ClinGen TOPMed |
|
|
CA838996 rs754719484 |
338 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA340227685 rs1424724356 |
338 | Q>K | No |
ClinGen TOPMed |
|
|
rs778569400 CA838997 |
339 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA838998 rs752544893 |
339 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA838999 rs4646491 VAR_018360 |
340 | R>C | allele CYP4B1*2 and allele CYP4B1*7 [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs777880279 CA839000 |
340 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340227698 rs4646491 |
340 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA839001 rs747049267 |
341 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs771109140 CA839002 |
342 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765891281 CA839003 |
343 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 344 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1034465987 CA21977464 |
344 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA340227725 rs1034465987 |
344 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
VAR_018361 rs1557501779 CA340227729 |
345 | V>I | allele CYP4B1*6 [UniProt] | No |
ClinGen UniProt Ensembl dbSNP |
|
CA839004 rs56180718 |
346 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA340227736 rs56180718 |
346 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199691504 CA839005 |
346 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs961240081 CA21977476 |
347 | E>G | No |
ClinGen Ensembl |
|
|
rs1440319489 CA340227796 |
347 | E>K | No |
ClinGen gnomAD |
|
|
CA839007 rs763330238 |
351 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1307681727 CA340227833 |
352 | Q>L | No |
ClinGen TOPMed |
|
|
CA340227839 rs1390596383 |
353 | D>A | No |
ClinGen TOPMed |
|
|
CA21977485 rs1017174444 |
353 | D>E | No |
ClinGen TOPMed |
|
|
RCV000974840 CA839009 VAR_048455 rs17102592 |
354 | F>C | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA21977529 rs972924736 |
354 | F>L | No |
ClinGen TOPMed |
|
|
rs1364603842 CA340227862 |
356 | Q>L | No |
ClinGen TOPMed |
|
|
CA340227861 rs1364603842 |
356 | Q>R | No |
ClinGen TOPMed |
|
|
rs1431500738 CA340227890 |
358 | D>G | No |
ClinGen gnomAD |
|
|
rs954851806 CA21978647 |
358 | D>H | No |
ClinGen Ensembl |
|
|
CA839023 rs769858126 |
359 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA839021 rs781064413 |
359 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360094156 CA340227894 |
359 | D>V | No |
ClinGen gnomAD |
|
|
rs781064413 CA839022 |
359 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21978670 rs752844537 |
361 | G>A | No |
ClinGen Ensembl |
|
|
CA21978691 rs201497628 |
362 | K>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA839024 rs201497628 |
362 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1450593450 CA340227915 |
363 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 365 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1231998134 CA340227939 |
366 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA340227945 rs1464999733 |
367 | T>N | No |
ClinGen gnomAD |
|
|
CA839027 rs774755693 |
368 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs59694031 RCV000883651 CA839028 |
369 | C>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA340227964 rs1484018860 |
370 | I>V | No |
ClinGen gnomAD |
|
|
rs772639166 CA839029 |
371 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772639166 CA340227971 |
371 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA839030 rs775948977 |
372 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA839031 rs373978131 COSM3360936 |
373 | S>N | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
VAR_018362 rs2297809 CA839033 |
375 | R>C | allele CYP4B1*2 [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs144321901 CA839034 |
375 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780956473 CA839035 |
379 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780956473 CA340228043 |
379 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA839036 rs751401677 |
381 | P>L | No |
ClinGen ExAC gnomAD |
|
|
COSM3400851 CA839037 rs576551322 |
385 | R>C | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA839038 rs767511721 |
385 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1302060613 CA340228149 |
388 | S>G | No |
ClinGen TOPMed |
|
|
rs780046875 CA839041 |
388 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 391 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749499440 CA839043 |
392 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs749499440 CA839042 |
392 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs779184367 CA340228301 |
397 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748528353 CA839045 |
397 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs779184367 CA839044 COSM1202884 |
397 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1569917651 CA340228336 |
398 | S>A | No |
ClinGen Ensembl |
|
|
CA340228337 rs1252510335 |
398 | S>C | No |
ClinGen gnomAD |
|
|
CA839047 rs773803897 |
400 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA21978853 rs1047656596 |
400 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA340228362 rs1047656596 |
400 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1211017383 CA340228948 |
402 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 404 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1230166403 CA340228963 |
404 | L>R | No |
ClinGen gnomAD |
|
|
CA21979362 rs756081544 |
405 | I>S | No |
ClinGen gnomAD |
|
|
rs1338567173 CA340228971 |
406 | S>P | No |
ClinGen gnomAD |
|
|
rs1193852319 CA340228977 |
407 | M>V | No |
ClinGen gnomAD |
|
|
rs779131973 CA839063 |
408 | H>L | No |
ClinGen ExAC TOPMed |
|
|
rs779131973 CA340228989 |
408 | H>R | No |
ClinGen ExAC TOPMed |
|
|
rs1557504831 CA340229011 |
411 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 413 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA839065 rs758763794 |
416 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA340229048 rs1435608325 |
416 | S>R | No |
ClinGen TOPMed |
|
|
CA340229052 rs1368735166 |
417 | A>V | No |
ClinGen TOPMed |
|
|
CA21979391 rs1043525777 |
418 | V>I | No |
ClinGen TOPMed |
|
|
CA839068 rs561533017 |
421 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1373849017 CA340229075 |
421 | D>N | No |
ClinGen gnomAD |
|
|
rs775080256 CA839069 |
422 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA839089 rs148403337 |
424 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA839090 rs370193617 |
426 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340229129 COSM1296525 rs1359422919 |
427 | S>C | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| rs756135384 | 428 | L>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs115133540 CA839093 |
429 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773003953 CA839095 COSM274724 |
429 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs115133540 CA839094 |
429 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1450648953 CA340229140 |
430 | F>L | No |
ClinGen TOPMed |
|
|
CA839097 rs770817630 |
431 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs551914469 CA839099 |
435 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340229181 rs1198623411 |
436 | S>P | No |
ClinGen Ensembl |
|
|
CA839101 rs199759345 |
438 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368867656 CA839102 COSM1202883 |
438 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs764241104 CA839103 |
439 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA839104 rs751909883 |
440 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs757662475 CA839105 |
445 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1450926183 CA340229240 |
445 | P>T | No |
ClinGen gnomAD |
|
|
rs911882102 CA21979624 |
447 | S>Y | No |
ClinGen TOPMed |
|
|
CA340229260 rs1276881257 |
448 | A>S | No |
ClinGen TOPMed |
|
|
rs141281141 CA839108 |
449 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 449 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754586930 CA839109 |
450 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA839137 rs780903917 |
451 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs745681511 CA839138 |
453 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA839139 rs769675596 |
454 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21979994 rs1056690607 |
454 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA839140 CA340229330 rs775257654 |
457 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340229340 rs917699077 |
459 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA21980022 rs917699077 |
459 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1169457987 CA340229349 |
460 | M>R | No |
ClinGen gnomAD |
|
|
CA839141 rs749294777 |
461 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA340229360 rs1383122061 |
462 | E>K | No |
ClinGen TOPMed |
|
|
CA21980036 rs947792717 |
463 | M>T | No |
ClinGen TOPMed |
|
| TCGA novel | 465 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340229384 rs1326417379 |
465 | V>M | No |
ClinGen gnomAD |
|
|
CA340229394 rs1466667584 |
466 | V>A | No |
ClinGen TOPMed |
|
|
rs767865661 CA839145 |
467 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773663866 CA839146 |
467 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs531347455 CA839147 |
469 | M>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs935467724 CA21980053 |
469 | M>L | No |
ClinGen Ensembl |
|
|
CA839148 rs531347455 |
469 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA21980050 rs935467724 |
469 | M>V | No |
ClinGen Ensembl |
|
|
rs1215578899 CA340229428 |
472 | L>F | No |
ClinGen gnomAD |
|
|
rs138678209 CA839149 |
473 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs143680556 COSM1343172 CA839150 |
473 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs143680556 CA839151 |
473 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 478 | L>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557505944 CA340229476 |
479 | D>E | No |
ClinGen Ensembl |
|
|
CA839153 rs375759162 |
480 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200623406 CA839152 |
480 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21980090 rs1044482062 |
481 | S>L | No |
ClinGen Ensembl |
|
|
CA21980098 rs780850977 |
482 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000961882 rs45622937 VAR_048456 CA839155 |
482 | R>Q | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs780850977 CA839154 |
482 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377633280 CA839156 |
484 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA839157 rs142726830 |
485 | I>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA340229500 rs1259402724 |
485 | I>V | No |
ClinGen gnomAD |
|
|
CA21980131 rs995200033 |
486 | K>E | No |
ClinGen Ensembl |
|
|
CA839159 rs768642747 CA21980135 |
487 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749176742 CA839158 |
487 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA839161 rs748261479 |
488 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs779077528 CA839160 |
488 | P>T | No |
ClinGen ExAC |
|
|
CA839164 rs773539102 |
492 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371613738 CA839165 |
493 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs557491224 CA839167 |
493 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA839166 rs371613738 |
493 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 495 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765791466 CA839168 |
495 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs751026514 CA839169 |
497 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1354849650 CA340229587 |
499 | H>P | No |
ClinGen TOPMed |
|
|
CA340229595 rs1569925903 |
500 | L>P | No |
ClinGen Ensembl |
|
|
CA340229601 rs1569925982 |
501 | H>P | No |
ClinGen Ensembl |
|
|
CA839172 rs767061024 |
501 | H>Y | No |
ClinGen ExAC TOPMed |
|
|
rs1431517266 CA340229607 |
502 | L>P | No |
ClinGen TOPMed |
|
|
CA340229623 rs750062066 |
505 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs966147642 CA21980224 |
508 | G>V | No |
ClinGen Ensembl |
|
|
rs1258570243 CA340229650 |
509 | S>F | No |
ClinGen gnomAD |
|
|
CA839177 rs754822880 |
510 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with P13584
1 regional properties for P13584
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Cytochrome P450, conserved site | 435 - 444 | 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 | |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| aromatase activity | Catalysis of the reduction of an aliphatic ring to yield an aromatic ring. |
| 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. |
| 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. |
| oxygen binding | Binding to oxygen (O2). |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| biphenyl metabolic process | The chemical reactions and pathways involving biphenyl, a toxic aromatic hydrocarbon used as a heat transfer agent, as a fungistat in packaging citrus fruits and in plant disease control. Biphenyl can be chlorinated with 1-10 chlorine molecules to form polychlorinated biphenyls (PCBs). |
| fatty acid metabolic process | The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis. |
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 |
| Q9V7G5 | Cyp4aa1 | Probable cytochrome P450 4aa1 | 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 |
| Q9VMS8 | Cyp4ac2 | Probable cytochrome P450 4ac2 | Drosophila melanogaster (Fruit fly) | PR |
| Q9VMS7 | Cyp4ac3 | Probable cytochrome P450 4ac3 | Drosophila melanogaster (Fruit fly) | PR |
| Q9V559 | Cyp4p3 | Probable cytochrome P450 4p3 | Drosophila melanogaster (Fruit fly) | PR |
| Q6ZWL3 | CYP4V2 | Cytochrome P450 4V2 | Homo sapiens (Human) | 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 |
| 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 |
| MVPSFLSLSF | SSLGLWASGL | ILVLGFLKLI | HLLLRRQTLA | KAMDKFPGPP | THWLFGHALE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IQETGSLDKV | VSWAHQFPYA | HPLWFGQFIG | FLNIYEPDYA | KAVYSRGDPK | APDVYDFFLQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| WIGRGLLVLE | GPKWLQHRKL | LTPGFHYDVL | KPYVAVFTES | TRIMLDKWEE | KAREGKSFDI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FCDVGHMALN | TLMKCTFGRG | DTGLGHRDSS | YYLAVSDLTL | LMQQRLVSFQ | YHNDFIYWLT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PHGRRFLRAC | QVAHDHTDQV | IRERKAALQD | EKVRKKIQNR | RHLDFLDILL | GARDEDDIKL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SDADLRAEVD | TFMFEGHDTT | TSGISWFLYC | MALYPEHQHR | CREEVREILG | DQDFFQWDDL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GKMTYLTMCI | KESFRLYPPV | PQVYRQLSKP | VTFVDGRSLP | AGSLISMHIY | ALHRNSAVWP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DPEVFDSLRF | STENASKRHP | FAFMPFSAGP | RNCIGQQFAM | SEMKVVTAMC | LLRFEFSLDP |
| 490 | 500 | 510 | |||
| SRLPIKMPQL | VLRSKNGFHL | HLKPLGPGSG | K |