P51589
PR
Gene name |
CYP2J2 |
Protein name |
Cytochrome P450 2J2 |
Names |
Albendazole monooxygenase (hydroxylating), Albendazole monooxygenase (sulfoxide-forming), Arachidonic acid epoxygenase, CYPIIJ2, Hydroperoxy icosatetraenoate isomerase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1573 |
EC number |
1.14.14.73: 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 P51589
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P51589-F1 | Predicted | AlphaFoldDB |
449 variants for P51589
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA340539309 rs1376828970 |
2 | L>I | No |
ClinGen gnomAD |
|
|
rs781226105 CA880293 |
3 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA880291 rs150385320 |
4 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340539294 rs150385320 |
4 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369764785 CA880289 |
7 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340539274 rs1208985819 |
7 | S>F | No |
ClinGen gnomAD |
|
|
CA880288 rs752284838 |
9 | A>S | No |
ClinGen ExAC |
|
|
rs377733707 CA880287 |
9 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA880285 rs146801076 |
10 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA880286 rs756452345 |
10 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340539264 rs756452345 |
10 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340539261 rs146801076 |
10 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141303570 CA880283 |
14 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340539239 rs141303570 |
14 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA880282 rs141303570 |
14 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA880281 rs764068656 |
17 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs763159785 CA880280 |
18 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA880279 rs181737961 |
19 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340539206 rs1369737024 |
20 | T>A | No |
ClinGen TOPMed |
|
|
CA340539201 rs1387630130 |
21 | L>V | No |
ClinGen TOPMed |
|
|
CA880278 rs770076500 |
23 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA340539183 rs1172894676 |
24 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA22908247 rs370023695 |
28 | F>L | No |
ClinGen Ensembl |
|
|
CA340539119 rs1414249105 |
31 | A>P | No |
ClinGen gnomAD |
|
|
CA340539118 rs1414249105 |
31 | A>T | No |
ClinGen gnomAD |
|
|
CA340539039 rs1259053452 |
37 | R>K | No |
ClinGen TOPMed |
|
|
rs1574264824 CA340539014 |
39 | R>C | No |
ClinGen Ensembl |
|
|
CA880274 rs143139345 |
39 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143139345 CA340539011 |
39 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757811845 CA880272 |
41 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757811845 CA880273 |
41 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1485183229 CA340538991 |
41 | K>T | No |
ClinGen gnomAD |
|
|
CA340538962 rs1263694525 |
43 | Y>C | No |
ClinGen gnomAD |
|
|
CA340538951 rs1268111352 |
44 | P>A | No |
ClinGen gnomAD |
|
|
CA340538945 rs1229523094 |
44 | P>L | No |
ClinGen gnomAD |
|
|
CA880270 rs778385147 |
45 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA880269 rs754658889 |
46 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334569219 CA340538910 |
47 | P>L | No |
ClinGen gnomAD |
|
|
rs11572190 CA22908202 |
49 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA880267 rs767883510 |
49 | R>H | No |
ClinGen ExAC |
|
|
rs11572190 CA880268 VAR_029159 |
49 | R>S | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs752006944 CA880265 |
51 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457675323 CA340538861 |
51 | P>L | No |
ClinGen gnomAD |
|
|
rs11572192 CA880263 |
52 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1161489434 CA340538848 |
52 | F>S | No |
ClinGen gnomAD |
|
|
rs1390966414 CA340538854 |
52 | F>V | No |
ClinGen gnomAD |
|
|
rs775670271 CA880262 |
54 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1458446922 CA340538827 |
54 | G>R | No |
ClinGen TOPMed |
|
|
rs555458233 CA880261 |
55 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1427157317 CA340538813 |
55 | N>S | No |
ClinGen gnomAD |
|
|
rs1052097586 CA22908186 |
57 | F>C | No |
ClinGen TOPMed |
|
|
rs759849513 CA880260 |
57 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA22908175 rs934932563 |
58 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA880259 rs777048725 |
59 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA340538774 rs1279236370 |
60 | D>G | No |
ClinGen TOPMed |
|
|
CA340538759 rs1292613198 |
62 | E>G | No |
ClinGen TOPMed |
|
|
CA880257 rs563723716 |
62 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs563723716 CA340538762 |
62 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772073535 CA880255 |
63 | Q>* | No |
ClinGen ExAC |
|
|
CA340537477 rs1169462318 |
72 | V>M | No |
ClinGen gnomAD |
|
|
rs769467689 CA880231 |
74 | K>R | No |
ClinGen ExAC |
|
|
CA340537449 rs747269765 |
75 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340537456 rs1432076798 |
75 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 76 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1172548606 CA340537437 |
77 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA22902886 rs577388943 |
77 | N>K | No |
ClinGen Ensembl |
|
|
rs1172548606 CA340537438 |
77 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 78 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778211943 CA340537423 |
79 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 80 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753240136 CA880226 |
80 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM911205 CA880227 rs753240136 |
80 | S>G | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA340537402 rs1205416342 |
82 | E>D | No |
ClinGen gnomAD |
|
|
rs991287219 CA22902874 |
82 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1214934191 CA340537399 |
83 | L>F | No |
ClinGen TOPMed |
|
|
rs779601407 CA880225 |
84 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs779601407 CA340537391 |
84 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA880224 rs186560946 |
85 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA880222 rs371614894 |
86 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA880223 rs560928073 |
86 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340537376 rs1294085864 |
87 | S>A | No |
ClinGen TOPMed |
|
|
rs760959939 CA880221 |
88 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA880219 rs370332169 |
93 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA880218 rs761582557 |
94 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 95 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1574257499 CA340537303 |
99 | E>K | No |
ClinGen Ensembl |
|
|
rs1333868215 CA340537292 |
100 | A>D | No |
ClinGen gnomAD |
|
|
rs1415561725 CA340537277 |
102 | I>M | No |
ClinGen gnomAD |
|
|
CA340537279 rs1574257487 |
102 | I>N | No |
ClinGen Ensembl |
|
|
CA880216 rs2229190 |
103 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774984907 CA880214 |
104 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1157585002 CA340537268 |
104 | M>V | No |
ClinGen gnomAD |
|
|
CA880213 rs553836084 |
105 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745519073 CA880212 |
107 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 108 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1443359107 CA340537234 |
108 | F>S | No |
ClinGen TOPMed |
|
|
rs956912879 CA22902817 |
109 | G>E | No |
ClinGen TOPMed |
|
|
rs776210959 CA880211 |
110 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs545035265 CA880209 |
111 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA880208 rs779509762 COSM911204 |
111 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA340537218 rs779509762 |
111 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs545035265 COSM1735016 CA880210 |
111 | R>S | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
VAR_029160 CA880206 rs11572242 COSM193158 |
113 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs780297550 CA880205 |
114 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs537207272 CA880204 |
116 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA880203 rs750655796 |
117 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA340537187 rs750655796 |
117 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202053203 CA880202 |
117 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340537182 rs1377178727 |
118 | E>* | No |
ClinGen gnomAD |
|
|
rs1341499164 CA340537175 |
119 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1341499164 CA340537176 |
119 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA340537171 rs751379367 |
119 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA880201 rs373681729 |
119 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1341499164 CA340537174 |
119 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA340537167 rs1574257362 |
120 | I>F | No |
ClinGen Ensembl |
|
|
rs763952565 CA880199 |
121 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA22902724 rs1025612301 |
122 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs2228113 VAR_022084 CA880197 |
124 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1358954005 CA340537117 |
125 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs753315409 CA880176 |
126 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762486201 CA880175 |
127 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340537109 rs1487576264 |
127 | I>V | No |
ClinGen gnomAD |
|
|
CA880174 rs760421619 |
128 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA340537091 rs1559076287 |
129 | S>* | No |
ClinGen Ensembl |
|
|
CA880173 rs773060053 |
130 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs112540103 CA880172 |
131 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA880171 rs150438476 COSM1202863 |
133 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA880170 rs776044614 |
133 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs770225403 CA880169 |
134 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340537031 rs1574254963 |
138 | R>T | No |
ClinGen Ensembl |
|
|
rs745921676 CA880168 |
139 | R>G | No |
ClinGen ExAC |
|
|
rs781144349 CA880167 |
139 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs771056621 CA880166 |
141 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_014317 rs55753213 CA22900911 |
143 | T>A | allele CYP2J2*2; significantly reduced metabolism of both arachidonic acid and linoleic acid [UniProt] | No |
ClinGen UniProt Ensembl dbSNP |
|
CA340537001 rs1189985425 |
143 | T>R | No |
ClinGen gnomAD |
|
|
CA22900909 rs193187372 |
144 | A>E | No |
ClinGen 1000Genomes |
|
|
rs1326657349 CA340536963 |
149 | G>A | No |
ClinGen TOPMed |
|
|
rs1243555175 CA340536955 |
150 | L>F | No |
ClinGen TOPMed |
|
|
CA880161 rs778866184 |
151 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1291232561 CA340536944 |
152 | K>R | No |
ClinGen TOPMed |
|
|
rs1172502106 CA340536930 |
154 | S>C | No |
ClinGen gnomAD |
|
|
rs765797963 CA880158 |
156 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_014318 rs56307989 CA880157 |
158 | R>C | Variant assessed as Somatic; 0.0 impact. allele CYP2J2*3; significantly reduced metabolism of both arachidonic acid and linoleic acid [NCI-TCGA, UniProt] | No |
ClinGen UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs56307989 CA22900862 |
158 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA880155 rs773108427 |
158 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773108427 CA880156 |
158 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs112414284 CA22900853 |
159 | I>S | No |
ClinGen Ensembl |
|
|
CA340536881 rs1207916181 |
161 | E>D | No |
ClinGen gnomAD |
|
|
rs763362689 CA880154 |
161 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs142640585 CA880153 |
163 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1253405602 CA340536867 |
163 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 164 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340536864 rs1447822266 |
164 | Q>K | No |
ClinGen TOPMed |
|
|
CA880150 rs777261726 |
165 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs759945858 CA880151 |
165 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA880149 rs770966629 |
166 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1259023574 CA340536846 |
167 | T>A | No |
ClinGen gnomAD |
|
|
rs1007815021 CA22900833 |
169 | A>E | No |
ClinGen Ensembl |
|
|
CA880146 rs557770949 |
170 | I>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1408807467 CA340536824 |
170 | I>M | No |
ClinGen gnomAD |
|
|
CA880147 rs557770949 |
170 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200244069 CA22900821 |
173 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 175 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1424304237 CA340536778 |
175 | G>E | No |
ClinGen gnomAD |
|
|
CA880143 rs747907693 |
175 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA880123 rs768309780 |
177 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA22900595 rs1044923053 |
177 | P>T | No |
ClinGen gnomAD |
|
| rs778009327 | 179 | D>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1315415783 CA340536749 |
179 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1339688708 CA340536752 |
179 | D>G | No |
ClinGen gnomAD |
|
|
CA880121 rs749160309 |
180 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780091237 CA22900583 CA880120 |
182 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs756152206 CA880119 |
184 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA340536715 rs1275586185 |
184 | I>M | No |
ClinGen TOPMed |
|
|
rs1336025539 CA340536709 |
185 | N>S | No |
ClinGen TOPMed |
|
|
CA22900571 rs896307983 |
186 | N>D | No |
ClinGen Ensembl |
|
|
CA340536703 rs1214462320 |
186 | N>S | No |
ClinGen TOPMed |
|
|
rs529370939 CA880118 |
188 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340536676 rs1161723365 |
190 | N>K | No |
ClinGen gnomAD |
|
|
CA22900565 rs942059546 |
190 | N>S | No |
ClinGen TOPMed |
|
|
VAR_014319 rs66515830 CA880117 |
192 | I>N | allele CYP2J2*4; significantly reduced metabolism of arachidonic acid only [UniProt] | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1386276815 CA340536667 |
192 | I>V | No |
ClinGen gnomAD |
|
|
CA880116 rs377443601 |
193 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340536652 rs1256587594 |
194 | S>C | No |
ClinGen TOPMed |
|
|
rs751141265 CA880115 |
195 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA340536642 rs1189748125 |
196 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA880114 rs763855244 |
197 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA880112 rs757548642 |
198 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA880111 rs201070738 COSM911202 |
200 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA880109 COSM1202866 rs115453547 |
200 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA880110 rs115453547 |
200 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340536613 rs1433203930 |
201 | F>L | No |
ClinGen TOPMed |
|
|
rs767582413 CA340536605 |
202 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA880108 rs767582413 |
202 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA340536587 rs1296850958 |
204 | Q>R | No |
ClinGen gnomAD |
|
|
CA340536570 rs1328312377 |
206 | S>I | No |
ClinGen gnomAD |
|
|
rs768945422 CA880105 |
207 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA880104 rs748996839 |
208 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs201596747 CA22900521 |
208 | F>L | No |
ClinGen 1000Genomes gnomAD |
|
|
rs778345419 CA880103 |
210 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340536524 rs1321632442 |
213 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA340536488 rs1318161524 |
218 | V>A | No |
ClinGen TOPMed |
|
|
CA22900507 rs985209099 |
218 | V>L | No |
ClinGen Ensembl |
|
|
COSM1492118 rs1196048483 CA340536486 |
219 | T>A | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA880100 rs745795264 |
219 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA880099 rs781317457 |
220 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224226576 CA340536457 |
223 | A>D | No |
ClinGen gnomAD |
|
|
CA340536445 rs1481974412 |
225 | K>M | No |
ClinGen gnomAD |
|
| TCGA novel | 225 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA880098 rs770325370 |
227 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA340536421 rs1341320404 |
228 | Q>H | No |
ClinGen gnomAD |
|
|
CA340536028 rs1417425738 |
230 | Y>* | No |
ClinGen TOPMed |
|
|
CA22899475 rs958414779 |
230 | Y>C | No |
ClinGen Ensembl |
|
|
rs1406210428 CA340536025 |
231 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs536183984 CA880072 |
231 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340536019 rs1455325452 |
232 | V>I | No |
ClinGen gnomAD |
|
|
CA880070 rs143860781 |
235 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1471069538 CA340535999 |
235 | W>R | No |
ClinGen gnomAD |
|
|
rs757787878 CA880069 |
236 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs751537922 CA880068 |
237 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340535983 rs1461662594 |
237 | M>V | No |
ClinGen gnomAD |
|
|
CA880067 rs764222040 |
244 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1332099417 CA340535931 |
245 | Q>K | No |
ClinGen TOPMed |
|
|
CA340535923 rs1225658852 |
246 | T>P | No |
ClinGen gnomAD |
|
|
CA340535912 rs1377459000 |
247 | L>R | No |
ClinGen gnomAD |
|
|
CA880065 rs200029135 |
251 | W>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763164639 CA880066 |
251 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA22899415 rs888270915 |
253 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1284805449 CA340535864 |
254 | L>M | No |
ClinGen TOPMed |
|
|
rs139087440 CA880064 |
256 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340535837 rs759364370 |
258 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA880063 rs759364370 |
258 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776485705 CA340535829 |
259 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA880062 rs776485705 |
259 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA340535825 rs201004353 |
260 | H>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340535822 rs1162633539 |
260 | H>Q | No |
ClinGen gnomAD |
|
|
CA880061 rs201004353 |
260 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340535809 rs1445005705 |
262 | I>T | No |
ClinGen gnomAD |
|
|
rs760645970 CA880060 |
264 | K>E | No |
ClinGen ExAC |
|
|
rs367966355 CA880058 |
264 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340535788 rs1485612247 |
265 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA340535789 rs1186560619 |
265 | H>Y | No |
ClinGen gnomAD |
|
|
rs1242725128 CA340535770 |
267 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs747708112 CA880057 |
268 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA880056 rs747708112 |
268 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs201628108 CA22899337 |
269 | W>C | No |
ClinGen gnomAD |
|
|
CA340535738 rs1291516954 |
270 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA22899331 rs747714982 |
272 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA22899330 rs1040693813 |
272 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA880053 rs141697212 |
273 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1235692174 CA340535672 |
274 | T>A | No |
ClinGen Ensembl |
|
|
CA880052 rs746165379 |
274 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs888455005 CA22899316 |
276 | D>N | No |
ClinGen Ensembl |
|
|
rs866946075 CA340535612 |
277 | F>I | No |
ClinGen Ensembl |
|
|
rs866946075 CA22899308 |
277 | F>V | No |
ClinGen Ensembl |
|
|
rs996945619 CA22899304 CA340535567 |
279 | D>E | No |
ClinGen TOPMed |
|
|
rs1347819538 CA340535555 |
280 | A>D | No |
ClinGen gnomAD |
|
|
rs1347819538 CA340535553 |
280 | A>G | No |
ClinGen gnomAD |
|
|
CA340535538 rs1302143115 |
281 | Y>F | No |
ClinGen gnomAD |
|
|
rs1191827901 CA340535518 |
282 | L>R | No |
ClinGen gnomAD |
|
|
CA22899286 rs899892667 COSM911201 |
284 | E>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs899892667 CA22899292 |
284 | E>K | No |
ClinGen Ensembl |
|
|
rs374814570 CA880049 |
285 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA880050 rs757621876 |
285 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA880028 rs373088300 |
290 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748177509 CA880027 |
291 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs779118361 CA880026 |
292 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA340535182 rs1574251463 |
293 | T>A | No |
ClinGen Ensembl |
|
|
rs1574251458 CA340535175 |
294 | S>A | No |
ClinGen Ensembl |
|
|
CA880025 rs755171883 |
295 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340535152 rs754057670 |
297 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1373744713 CA340535150 |
297 | H>Q | No |
ClinGen gnomAD |
|
|
CA880024 rs754057670 |
297 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1299860965 CA340535141 |
299 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA340535127 rs1559074613 |
300 | N>K | No |
ClinGen Ensembl |
|
|
rs1177173841 CA340535034 |
308 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 311 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150461093 CA880021 |
312 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA880020 rs767380029 |
313 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA880018 rs774331140 |
314 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA880017 rs763590997 |
315 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA340534905 rs1165272681 |
316 | T>A | No |
ClinGen Ensembl |
|
|
CA880016 rs762412473 |
317 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325063835 CA340534871 |
318 | T>K | No |
ClinGen gnomAD |
|
|
CA340534863 rs1225263064 |
319 | T>A | No |
ClinGen TOPMed |
|
|
CA340534857 rs1285336069 |
319 | T>S | No |
ClinGen TOPMed |
|
|
rs2229191 CA880015 |
321 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761034141 CA880013 |
321 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340534808 rs1450376960 |
322 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1308798094 CA340534822 |
322 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA340534797 rs1382022827 |
323 | A>T | No |
ClinGen gnomAD |
|
|
rs1337308097 CA340534755 |
325 | L>I | No |
ClinGen gnomAD |
|
|
rs142183130 CA880011 |
326 | Y>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA880010 rs748657942 |
327 | M>T | No |
ClinGen ExAC TOPMed |
|
|
rs878977607 CA340534684 |
329 | L>F | No |
ClinGen TOPMed |
|
|
CA22898180 rs878977607 |
329 | L>I | No |
ClinGen TOPMed |
|
|
rs150250306 CA880009 |
330 | Y>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs768837674 CA880008 |
332 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs780286411 CA880006 |
335 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA340534189 rs1481020359 |
336 | K>R | No |
ClinGen TOPMed |
|
|
CA22897099 rs953683422 |
337 | V>A | No |
ClinGen Ensembl |
|
|
rs776490056 CA879995 |
337 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1263183018 CA340534179 |
338 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 340 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA22897091 rs56053398 |
342 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_014320 CA879994 rs56053398 |
342 | D>N | allele CYP2J2*5; no change in activity [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA340534144 rs1383002905 |
343 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 343 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340534078 rs762315003 |
346 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA879992 rs762315003 |
346 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774953352 CA879991 |
347 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1386222490 CA340534058 |
347 | Q>R | No |
ClinGen gnomAD |
|
|
CA340534028 rs1474676923 |
349 | Q>E | No |
ClinGen gnomAD |
|
|
CA879989 COSM1249591 rs148429756 |
351 | P>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1171069091 CA340533904 |
353 | T>K | No |
ClinGen TOPMed |
|
|
CA340533889 rs1559073754 |
354 | A>P | No |
ClinGen Ensembl |
|
|
CA340533892 rs1559073754 |
354 | A>T | No |
ClinGen Ensembl |
|
|
rs144856672 CA879985 |
355 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142713068 CA879983 |
356 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA879982 rs142713068 |
356 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201789916 CA879984 |
356 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA879981 rs758280319 |
357 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1687783 rs758280319 CA22897047 |
357 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA340533793 rs1224632972 |
358 | S>A | No |
ClinGen gnomAD |
|
|
rs1224632972 CA340533797 |
358 | S>T | No |
ClinGen gnomAD |
|
|
rs1228330040 CA340533762 |
359 | M>I | No |
ClinGen gnomAD |
|
|
rs886404864 CA22897043 |
359 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs752733359 CA879980 |
360 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764645502 CA879979 |
360 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA879977 rs753516471 |
361 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 361 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200351077 CA879975 |
365 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200351077 CA340533674 |
365 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766154927 CA879976 |
365 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22897023 rs766154927 |
365 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340533669 rs139196488 |
366 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139196488 CA879974 |
366 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340533645 rs1168971177 |
367 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA340533566 rs1284017278 |
371 | R>K | No |
ClinGen Ensembl |
|
|
CA879973 rs764608206 |
372 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs199717190 CA879972 |
374 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340533485 rs1465710903 |
375 | I>V | No |
ClinGen gnomAD |
|
|
rs776132354 CA879971 |
376 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340533455 rs1263096213 |
376 | I>V | No |
ClinGen TOPMed |
|
|
rs746763403 CA22897017 |
377 | P>L | No |
ClinGen Ensembl |
|
| rs1559073681 | 378 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA22897016 rs1056596 |
378 | L>Q | No |
ClinGen Ensembl |
|
|
rs745999107 CA879968 |
380 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340533352 rs1357684601 |
381 | P>L | No |
ClinGen gnomAD |
|
|
rs1341584513 CA340533345 |
382 | R>G | No |
ClinGen gnomAD |
|
|
CA879966 rs771144715 |
383 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs373306418 CA22896990 |
384 | V>G | No |
ClinGen Ensembl |
|
|
CA879964 rs746747851 |
385 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA340533285 rs1369714646 |
385 | T>S | No |
ClinGen TOPMed |
|
|
rs758276456 CA879962 |
387 | D>G | No |
ClinGen ExAC |
|
|
rs1440519177 CA340533238 |
391 | A>G | No |
ClinGen gnomAD |
|
|
CA879961 rs748001282 |
391 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA340533231 rs1335525707 |
392 | G>R | No |
ClinGen gnomAD |
|
|
CA340533214 rs1461450372 |
393 | Y>H | No |
ClinGen TOPMed |
|
|
CA340533175 rs1423463772 |
395 | L>M | No |
ClinGen gnomAD |
|
|
rs1320970119 CA340533151 |
396 | P>R | No |
ClinGen TOPMed |
|
|
CA340533157 rs1458650933 |
396 | P>S | No |
ClinGen TOPMed |
|
|
CA879939 rs779698190 |
398 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA340531981 rs1213918210 |
398 | G>D | No |
ClinGen gnomAD |
|
|
CA340531956 rs1467481501 |
399 | T>I | No |
ClinGen TOPMed |
|
|
CA879938 rs755756353 |
402 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA879937 rs750016660 |
403 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs72547598 CA22895441 VAR_014321 |
404 | N>Y | allele CYP2J2*6; significantly reduced metabolism of both arachidonic acid and linoleic acid [UniProt] | No |
ClinGen UniProt Ensembl dbSNP |
|
rs1357703238 CA340531813 |
406 | T>A | No |
ClinGen gnomAD |
|
|
rs200652429 CA879935 |
406 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA22895439 rs752285305 |
407 | A>S | No |
ClinGen Ensembl |
|
|
CA879933 rs199889025 |
407 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA879931 rs754404917 |
409 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA340531751 rs1294787969 |
410 | R>G | No |
ClinGen TOPMed |
|
|
rs1574247041 CA340531707 |
411 | D>A | No |
ClinGen Ensembl |
|
|
CA340531713 rs1313119517 |
411 | D>H | No |
ClinGen gnomAD |
|
|
CA879927 rs112241706 |
412 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA879929 rs112241706 |
412 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs112241706 CA879928 |
412 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340531658 rs1319796400 |
413 | T>R | No |
ClinGen TOPMed |
|
|
rs749230326 CA22895425 |
415 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs761449973 CA340531575 |
416 | A>D | No |
ClinGen ExAC |
|
|
rs761449973 CA879926 |
416 | A>V | No |
ClinGen ExAC |
|
|
rs774211326 CA879925 |
418 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA879923 rs150303224 |
420 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340531435 rs1383104350 |
421 | F>L | No |
ClinGen gnomAD |
|
|
CA879922 rs749233015 |
422 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs549562502 CA879921 |
423 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340531051 rs1169105355 |
433 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA879917 rs756944955 |
433 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs780670300 CA879918 |
433 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA340530986 rs1479040571 |
436 | E>* | No |
ClinGen TOPMed |
|
|
CA340530961 rs1291443294 |
437 | A>V | No |
ClinGen gnomAD |
|
|
rs1223882929 CA340530914 |
439 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs779241709 CA879915 |
442 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413454007 CA340530869 |
442 | S>T | No |
ClinGen TOPMed |
|
|
rs949741903 CA22895402 |
444 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 444 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1380853510 CA340538212 |
445 | K>N | No |
ClinGen TOPMed |
|
|
rs953043179 CA22911181 |
445 | K>R | No |
ClinGen Ensembl |
|
|
CA22911175 rs1030112791 |
446 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs201379188 CA879896 |
446 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 447 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376434807 CA879895 |
447 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA879892 rs143299525 |
450 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1335144106 CA340538175 |
452 | Q>K | No |
ClinGen TOPMed |
|
|
rs1468284592 CA340538158 |
454 | A>S | No |
ClinGen gnomAD |
|
|
CA879891 rs750951361 |
455 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA340538148 rs1177393120 COSM1202865 |
456 | T>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs139865446 CA340538141 |
457 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA879890 rs139865446 |
457 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA879888 rs751813097 |
458 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA340538129 rs1234272705 |
459 | F>L | No |
ClinGen TOPMed |
|
|
rs1200057083 CA340538122 |
460 | I>L | No |
ClinGen gnomAD |
|
|
rs998989819 CA22911123 |
462 | F>C | No |
ClinGen Ensembl |
|
|
CA879885 rs775432386 |
466 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA340538078 rs775432386 |
466 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs374998965 CA879884 |
468 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 468 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340538050 rs1313769641 |
470 | T>A | No |
ClinGen gnomAD |
|
|
CA879883 rs759510111 |
470 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340538038 rs1333276871 |
472 | R>G | No |
ClinGen gnomAD |
|
|
CA340538032 rs1450607335 |
472 | R>S | No |
ClinGen gnomAD |
|
|
rs1243723687 CA340538035 |
472 | R>T | No |
ClinGen gnomAD |
|
|
CA340538026 rs1338491622 |
473 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 474 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340538018 rs1405383412 |
475 | N>D | No |
ClinGen gnomAD |
|
|
rs948733232 CA22911096 |
475 | N>K | No |
ClinGen gnomAD |
|
|
rs770448598 CA879881 |
476 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA879880 rs772811317 |
476 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs915880673 CA22911090 |
477 | E>K | No |
ClinGen gnomAD |
|
|
CA879877 rs749597933 |
483 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749597933 CA879878 |
483 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340537934 rs1241941603 |
484 | R>K | No |
ClinGen gnomAD |
|
|
CA340537911 rs1171735409 |
486 | G>C | No |
ClinGen TOPMed |
|
|
rs1379116084 CA340537904 |
486 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1466383801 CA340537865 COSM1687782 |
490 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 490 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749662613 CA879876 |
491 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559070288 CA340537825 |
494 | H>Y | No |
ClinGen Ensembl |
|
|
CA879874 rs144581123 COSM1627131 |
495 | R>C | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs762010130 CA879872 |
495 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762010130 CA879873 |
495 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139705845 CA879870 |
498 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758677753 CA879869 |
499 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs758677753 CA879868 |
499 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA22911046 rs972312570 |
501 | Q>R | No |
ClinGen Ensembl |
|
|
rs765046854 CA340537741 |
502 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA879866 rs765046854 |
502 | V>M | No |
ClinGen ExAC gnomAD |
No associated diseases with P51589
1 regional properties for P51589
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Cytochrome P450, conserved site | 441 - 450 | IPR017972 |
Functions
| Description | ||
|---|---|---|
| EC Number | 1.14.14.73 | 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 | |
4 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. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| 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. |
12 GO annotations of molecular function
| Name | Definition |
|---|---|
| arachidonic acid 11,12-epoxygenase activity | Catalysis of an NADPH- and oxygen-dependent reaction that converts arachidonic acid to cis-11,12-epoxyeicosatrienoic acid. |
| arachidonic acid 14,15-epoxygenase activity | Catalysis of an NADPH- and oxygen-dependent reaction that converts arachidonic acid to cis-14,15-epoxyeicosatrienoic acid. |
| arachidonic acid 5,6-epoxygenase activity | Catalysis of an NADPH- and oxygen-dependent reaction that converts arachidonic acid to cis-5,6-epoxyeicosatrienoic acid. |
| arachidonic acid epoxygenase activity | Catalysis of an NADPH- and oxygen-dependent reaction that converts arachidonic acid to a cis-epoxyeicosatrienoic acid. |
| heme binding | Binding to a heme, a compound composed of iron complexed in a porphyrin (tetrapyrrole) ring. |
| hydroperoxy icosatetraenoate isomerase activity | A hydroperoxy icosatetraenoate <=> a hydroxy epoxy icosatrienoate. |
| iron ion binding | Binding to an iron (Fe) ion. |
| isomerase activity | Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. |
| linoleic acid epoxygenase activity | Catalysis of an NADPH- and oxygen-dependent reaction that converts linoleic acid to a cis-epoxyoctadecenoic acid. |
| 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, 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. |
| steroid hydroxylase activity | Catalysis of the formation of a hydroxyl group on a steroid by incorporation of oxygen from O2. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| epoxygenase P450 pathway | The chemical reactions and pathways by which arachidonic acid is converted to other compounds including epoxyeicosatrienoic acids and dihydroxyeicosatrienoic acids. |
| fatty acid metabolic process | The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis. |
| icosanoid metabolic process | The chemical reactions and pathways involving icosanoids, any of a group of C20 polyunsaturated fatty acids. |
| linoleic acid metabolic process | The chemical reactions and pathways involving linoleic acid, an unsaturated omega-6 fatty acid that has the molecular formula C18H32O2. |
| organic acid metabolic process | The chemical reactions and pathways involving organic acids, any acidic compound containing carbon in covalent linkage. |
| regulation of heart contraction | Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process in which the heart decreases in volume in a characteristic way to propel blood through the body. |
| 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 |
| P05181 | CYP2E1 | Cytochrome P450 2E1 | 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 |
| 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 |
| O54749 | Cyp2j5 | Cytochrome P450 2J5 | Mus musculus (Mouse) | PR |
| O54750 | Cyp2j6 | Cytochrome P450 2J6 | Mus musculus (Mouse) | PR |
| P79383 | CYP2E1 | Cytochrome P450 2E1 | Sus scrofa (Pig) | PR |
| P33273 | Cyp2c55 | Cytochrome P450 2C55 | Rattus norvegicus (Rat) | PR |
| P05182 | Cyp2e1 | Cytochrome P450 2E1 | 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 |
| 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 |
| MLAAMGSLAA | ALWAVVHPRT | LLLGTVAFLL | AADFLKRRRP | KNYPPGPWRL | PFLGNFFLVD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FEQSHLEVQL | FVKKYGNLFS | LELGDISAVL | ITGLPLIKEA | LIHMDQNFGN | RPVTPMREHI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FKKNGLIMSS | GQAWKEQRRF | TLTALRNFGL | GKKSLEERIQ | EEAQHLTEAI | KEENGQPFDP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HFKINNAVSN | IICSITFGER | FEYQDSWFQQ | LLKLLDEVTY | LEASKTCQLY | NVFPWIMKFL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PGPHQTLFSN | WKKLKLFVSH | MIDKHRKDWN | PAETRDFIDA | YLKEMSKHTG | NPTSSFHEEN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LICSTLDLFF | AGTETTSTTL | RWALLYMALY | PEIQEKVQAE | IDRVIGQGQQ | PSTAARESMP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YTNAVIHEVQ | RMGNIIPLNV | PREVTVDTTL | AGYHLPKGTM | ILTNLTALHR | DPTEWATPDT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FNPDHFLENG | QFKKREAFMP | FSIGKRACLG | EQLARTELFI | FFTSLMQKFT | FRPPNNEKLS |
| 490 | 500 | ||||
| LKFRMGITIS | PVSHRLCAVP | QV |