P16050
PR
Gene name |
ALOX15 |
Protein name |
Polyunsaturated fatty acid lipoxygenase ALOX15 |
Names |
12/15-lipoxygenase, Arachidonate 12-lipoxygenase, leukocyte-type, 12-LOX, Arachidonate 15-lipoxygenase, 15-LOX, 15-LOX-1, Arachidonate omega-6 lipoxygenase, Hepoxilin A3 synthase Alox15, Linoleate 13S-lipoxygenase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:246 |
EC number |
1.13.11.12: With incorporation of two atoms 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 P16050
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P16050-F1 | Predicted | AlphaFoldDB |
631 variants for P16050
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
VAR_035039 RCV000762790 rs34210653 CA8306710 |
560 | T>M | Asthma, nasal polyps, and aspirin intolerance loss of catalytic activity; Loss of arachidonate 15-lipoxygenase activity. [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA287138483 rs201194124 |
2 | G>A | No |
ClinGen gnomAD |
|
|
rs777941722 CA8307366 |
4 | Y>C | No |
ClinGen ExAC |
|
|
rs1304117002 CA397257821 |
4 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 5 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756240531 CA8307365 |
6 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397257787 rs1188533571 |
6 | I>S | No |
ClinGen TOPMed |
|
|
CA397257784 rs1293114963 |
7 | R>G | No |
ClinGen gnomAD |
|
|
rs753102659 CA8307364 |
7 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753102659 CA397257780 |
7 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397257778 rs781701123 |
8 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs781701123 CA8307363 |
8 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1002308737 CA287138470 |
12 | A>T | No |
ClinGen TOPMed |
|
|
rs904067782 CA287138469 |
12 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 13 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751919468 CA8307361 |
13 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8307358 rs750102405 |
15 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA8307359 rs13306168 |
15 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA287138464 rs947163216 |
16 | A>T | No |
ClinGen TOPMed |
|
|
rs1440393839 CA397257648 |
17 | G>S | No |
ClinGen TOPMed |
|
|
rs1281639977 CA397257643 |
17 | G>V | No |
ClinGen TOPMed |
|
|
CA397257626 rs1197364758 |
18 | S>F | No |
ClinGen gnomAD |
|
|
rs1374588541 CA397257636 |
18 | S>P | No |
ClinGen TOPMed |
|
|
rs761359144 CA8307356 |
19 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA397257614 rs1284371960 |
20 | N>D | No |
ClinGen gnomAD |
|
|
CA397257606 rs1218851811 |
20 | N>S | No |
ClinGen TOPMed |
|
|
rs1301580070 CA397257592 |
21 | Q>H | No |
ClinGen TOPMed |
|
| TCGA novel | 22 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 23 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776051127 CA8307355 |
25 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397257510 rs1300859159 |
26 | L>P | No |
ClinGen gnomAD |
|
|
CA8307352 rs147708465 |
28 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs933012285 CA287138454 |
30 | H>Y | No |
ClinGen TOPMed |
|
|
rs1177011952 CA397257435 |
31 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA8307350 rs145573801 |
31 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1195004857 CA397257431 |
32 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA8307349 rs778169950 |
33 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1197806271 CA397257411 |
34 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1039010632 CA287138447 |
34 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs748247693 CA8307347 |
36 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 37 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755446288 CA8307346 |
37 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA8307344 rs752075488 |
38 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397257372 rs752075488 |
38 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8307343 rs780352097 |
38 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs369883231 CA287138435 |
39 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 41 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA397257337 rs1331529132 |
42 | A>T | No |
ClinGen TOPMed |
|
|
rs750829328 CA8307341 |
42 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1307304814 CA397257324 |
43 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA397257323 rs1307304814 |
43 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA397257326 rs1337726450 |
43 | R>W | No |
ClinGen gnomAD |
|
|
CA8307338 rs753381201 |
45 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA8307313 rs776753182 |
48 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8307312 rs776753182 |
48 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1325062930 CA397256855 |
49 | L>R | No |
ClinGen gnomAD |
|
|
CA397256851 rs768910071 |
50 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1467743182 CA397256844 |
50 | K>N | No |
ClinGen TOPMed |
|
|
rs768910071 CA8307311 |
50 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8307310 rs747072147 |
50 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA397256819 rs1169066049 |
53 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs772560135 CA8307308 |
55 | E>* | No |
ClinGen ExAC |
|
|
rs1421989960 CA397256783 |
56 | Y>D | No |
ClinGen gnomAD |
|
|
rs1421989960 CA397256784 |
56 | Y>H | No |
ClinGen gnomAD |
|
|
CA397256767 rs1248695671 |
57 | L>P | No |
ClinGen gnomAD |
|
|
rs1480944598 CA397256769 |
57 | L>V | No |
ClinGen gnomAD |
|
|
CA8307306 rs142054195 |
59 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs41493447 CA8307305 |
61 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397256682 rs1567649082 |
66 | R>G | No |
ClinGen Ensembl |
|
|
rs777260500 CA8307302 |
67 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs752239784 CA8307300 |
67 | K>N | No |
ClinGen ExAC |
|
|
CA8307301 rs755877609 |
67 | K>R | No |
ClinGen ExAC TOPMed |
|
|
CA8307298 rs201844503 |
68 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201844503 CA8307297 |
68 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200209568 CA8307299 |
68 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764290363 CA8307293 |
70 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA8307291 rs775479656 |
71 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 72 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1170527133 CA397256582 |
72 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs772148200 CA8307290 |
72 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA397256557 rs1238315881 |
73 | D>E | No |
ClinGen TOPMed |
|
|
CA8307288 rs746332651 |
74 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA397256554 rs1427619088 |
74 | D>N | No |
ClinGen gnomAD |
|
|
rs771509196 CA8307286 |
75 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1048604953 CA287138021 |
75 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8307285 rs749592379 |
76 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs769506036 CA8307281 COSM1736740 |
79 | N>S | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs143950319 CA397256381 |
83 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143950319 CA8307278 |
83 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8307276 rs751124489 |
84 | Q>* | No |
ClinGen ExAC TOPMed |
|
|
CA8307277 rs751124489 |
84 | Q>E | No |
ClinGen ExAC TOPMed |
|
|
CA8307273 rs758423961 |
85 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779836155 CA8307274 |
85 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1448379539 CA397256327 |
86 | P>L | No |
ClinGen gnomAD |
|
|
rs534604683 CA8307269 |
89 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA397256278 rs534604683 |
89 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8307270 rs765017223 |
89 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1223899330 CA397256258 |
90 | D>E | No |
ClinGen TOPMed |
|
|
RCV000890163 CA8307268 rs11568142 VAR_018746 |
90 | D>H | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM1563785 CA8307266 rs139214774 |
91 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA397256253 rs139214774 |
91 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759502284 CA8307265 |
92 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1437909519 CA397256209 |
93 | R>G | No |
ClinGen gnomAD |
|
|
CA8307264 rs774537440 |
93 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771328949 CA397256188 |
94 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397256174 rs1483525744 |
95 | P>L | No |
ClinGen gnomAD |
|
|
CA287138013 rs113120171 |
96 | C>Y | No |
ClinGen Ensembl |
|
|
rs1207792011 CA397256148 |
97 | Y>H | No |
ClinGen gnomAD |
|
|
CA8307261 rs773655335 |
98 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1597433051 CA397256106 |
100 | V>G | No |
ClinGen Ensembl |
|
|
CA397256115 rs1241777609 |
100 | V>L | No |
ClinGen gnomAD |
|
|
rs529650102 CA8307259 |
101 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs41439950 CA397256084 |
102 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs41439950 CA8307258 VAR_035036 RCV000714560 |
102 | G>V | No |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
|
CA8307257 rs141775682 |
103 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8307254 RCV000905140 rs11568099 VAR_018747 COSM4130317 |
103 | N>K | thyroid [Cosmic] | No |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs746490672 CA8307256 |
103 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA397256049 rs750370297 |
104 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8307253 rs750370297 |
104 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397256033 rs1351542612 |
105 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA8307251 rs757072915 |
105 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8307252 rs757072915 |
105 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8307249 rs753671947 |
106 | L>Q | No |
ClinGen ExAC |
|
|
rs767610436 CA8307247 |
110 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8307246 rs759860904 |
111 | G>D | No |
ClinGen ExAC gnomAD |
|
|
COSM3932651 CA8307244 rs41509647 |
113 | G>S | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1190976341 CA397255664 |
114 | R>C | No |
ClinGen TOPMed |
|
|
COSM706027 CA8307214 rs773906564 |
114 | R>H | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
CA8307213 rs770850282 |
115 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749228032 CA8307212 |
115 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186211623 CA397255630 |
116 | V>M | No |
ClinGen TOPMed |
|
|
CA397255615 rs1366259074 |
117 | G>S | No |
ClinGen TOPMed |
|
|
rs141412026 CA8307209 |
118 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755968436 CA8307210 |
118 | E>K | No |
ClinGen ExAC |
|
| TCGA novel | 119 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs555432714 CA8307208 |
121 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA397255468 rs1419496831 |
122 | G>D | No |
ClinGen TOPMed |
|
|
CA397255475 rs1597432758 |
122 | G>S | No |
ClinGen Ensembl |
|
|
rs754388646 CA8307203 |
127 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs200248535 CA287137930 |
127 | H>R | No |
ClinGen 1000Genomes |
|
|
CA397255347 rs41490747 |
128 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs41490747 CA8307201 |
128 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764322437 CA8307202 |
128 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs916255380 CA287137924 |
131 | E>D | No |
ClinGen TOPMed |
|
|
CA8307199 rs550406686 |
134 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759249982 CA8307198 |
135 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1310631082 CA397254403 |
136 | R>K | No |
ClinGen gnomAD |
|
|
rs770441178 CA8307196 |
138 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs113604586 CA8307195 |
139 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8307193 rs200443858 |
140 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs923741506 CA287137918 |
140 | R>Q | No |
ClinGen TOPMed |
|
|
CA287137921 rs200443858 |
140 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1204658878 CA397254278 |
143 | N>S | No |
ClinGen gnomAD |
|
|
CA287137890 rs201839482 |
145 | K>R | No |
ClinGen 1000Genomes |
|
|
CA397254231 rs1357076854 |
146 | D>G | No |
ClinGen gnomAD |
|
|
rs781486371 CA397254222 |
147 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781486371 CA8307162 |
147 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292420361 CA397254174 |
151 | N>D | No |
ClinGen gnomAD |
|
|
rs1294339533 CA397254159 |
152 | M>L | No |
ClinGen gnomAD |
|
|
CA8307160 rs755305449 |
155 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs766003543 CA8307158 |
156 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA287137882 rs1053467411 |
158 | Y>* | No |
ClinGen TOPMed |
|
|
rs749884701 CA8307156 |
158 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8307155 rs764670223 |
159 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 160 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8307153 rs776745478 |
161 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs764162430 CA8307152 |
163 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA8307150 rs775481147 |
164 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs760520043 CA8307151 |
164 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1452321565 CA397253990 |
165 | R>* | No |
ClinGen gnomAD |
|
|
CA397253988 rs1292094969 |
165 | R>Q | No |
ClinGen gnomAD |
|
|
CA397253973 rs1211612445 |
166 | F>C | No |
ClinGen gnomAD |
|
|
CA397253974 rs1211612445 |
166 | F>S | No |
ClinGen gnomAD |
|
|
CA397253956 rs1332545250 |
168 | E>Q | No |
ClinGen gnomAD |
|
|
CA8307149 rs771178063 |
170 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8307148 rs181950938 |
171 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs76317540 CA287137875 |
172 | V>A | No |
ClinGen Ensembl |
|
|
rs76317540 CA397253888 |
172 | V>G | No |
ClinGen Ensembl |
|
|
rs773284937 CA8307147 |
175 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs769786656 CA8307146 |
176 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8307145 rs748300660 |
177 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755538192 CA8307143 |
178 | L>M | No |
ClinGen ExAC |
|
|
CA8307142 rs747371012 |
178 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs750069334 CA8307139 |
181 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs750069334 CA8307140 |
181 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA8307141 rs147699871 |
181 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397253825 rs147699871 |
181 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8307121 rs778403773 |
184 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8307120 rs756988030 |
185 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8307119 rs753391735 |
185 | L>P | No |
ClinGen ExAC |
|
|
COSM980438 rs752703451 CA8307116 |
186 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs61119773 CA8307115 |
187 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765375152 CA8307113 CA397253765 |
189 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs572194467 CA8307114 |
189 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8307111 rs762029198 |
191 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8307109 rs372297874 |
192 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1449229152 CA397253734 |
193 | V>D | No |
ClinGen gnomAD |
|
|
CA287137796 rs11867874 |
194 | L>P | No |
ClinGen Ensembl |
|
|
CA8307108 rs761134127 |
196 | C>Y | No |
ClinGen ExAC |
|
|
rs11870258 CA287137788 |
197 | W>* | No |
ClinGen Ensembl |
|
|
rs746200809 CA8307105 |
197 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs772679977 CA8307106 |
197 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779398545 CA8307104 |
199 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 200 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201937446 CA8307103 |
201 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1245822873 CA397253628 |
203 | F>S | No |
ClinGen TOPMed |
|
|
rs777368020 CA8307101 |
203 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1473044691 CA397253612 |
204 | N>I | No |
ClinGen gnomAD |
|
|
rs1473044691 CA397253614 |
204 | N>S | No |
ClinGen gnomAD |
|
|
rs11568101 CA8307098 RCV000905139 VAR_018748 |
205 | R>Q | does not affect arachidonate 15-lipoxygenase activity. Does not affect protein affinity for (9Z,12Z)-octadecadienoate. [UniProt] | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8307099 rs752294917 |
205 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755010739 CA8307097 |
208 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs569584721 CA8307096 |
208 | W>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8307095 rs766211859 |
209 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8307094 rs761976379 |
210 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA8307093 rs555880155 |
211 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs555880155 CA8307092 |
211 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA8307090 rs775692999 |
212 | S>R | No |
ClinGen ExAC TOPMed |
|
|
rs1162628985 CA397253445 |
216 | E>G | No |
ClinGen gnomAD |
|
|
CA8307071 rs764290738 |
217 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8307070 rs562944588 |
217 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA397253430 rs1426345254 |
218 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA397253417 rs1469374871 |
219 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs552275481 CA8307069 |
219 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs533287707 CA287137690 |
222 | W>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA397253384 CA397253383 rs533287707 |
222 | W>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA397253386 rs1213616067 |
222 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
rs991653427 CA287137685 |
225 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1196354555 CA397253266 |
233 | L>F | No |
ClinGen TOPMed |
|
|
CA397253244 rs1307163091 |
235 | G>D | No |
ClinGen gnomAD |
|
|
CA397253240 rs1221026723 |
236 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs564346032 CA8307067 |
238 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
VAR_035037 CA8307066 rs3892408 |
239 | V>M | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs767034877 CA8307065 |
242 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1372161005 CA397253169 |
243 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1176253845 CA397253168 |
243 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA397253166 rs1176253845 |
243 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1392712716 CA397253158 |
244 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1392712716 CA397253156 |
244 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs201672823 CA8307064 |
244 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1032082622 CA287137671 |
246 | H>L | No |
ClinGen TOPMed |
|
|
CA397253139 rs1032082622 |
246 | H>P | No |
ClinGen TOPMed |
|
|
CA397253110 rs1321393934 |
249 | A>P | No |
ClinGen gnomAD |
|
|
rs773778444 CA8307063 |
249 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1458585643 CA397253101 |
250 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1458585643 CA397253103 |
250 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA397253096 rs1280606030 |
250 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1280606030 CA397253099 |
250 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs769504028 CA8307062 |
252 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA397253084 rs1228007870 |
252 | V>M | No |
ClinGen TOPMed |
|
|
rs572228816 CA8307060 |
254 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1213283826 CA397253047 |
255 | P>L | No |
ClinGen gnomAD |
|
|
CA397253050 rs1213283826 |
255 | P>Q | No |
ClinGen gnomAD |
|
|
rs1555549911 CA397253044 |
256 | G>C | No |
ClinGen Ensembl |
|
|
CA397253030 rs1485322694 |
257 | M>I | No |
ClinGen TOPMed |
|
|
CA397253025 rs1349713168 |
258 | E>K | No |
ClinGen gnomAD |
|
|
CA397252989 rs1448536839 |
261 | Q>* | No |
ClinGen gnomAD |
|
|
CA287137660 rs902154947 |
262 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1263157948 CA397252978 |
262 | A>T | No |
ClinGen TOPMed |
|
|
rs1189701337 CA397252953 |
264 | L>P | No |
ClinGen TOPMed |
|
|
CA397252948 rs1302735538 |
265 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1302735538 CA397252950 |
265 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA397252949 rs1302735538 |
265 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 270 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8307037 rs527619134 |
270 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778632356 CA8307036 |
273 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8307034 rs146411013 |
274 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8307033 rs370447055 |
275 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs376981036 CA8307032 |
276 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1234915719 CA397252753 |
277 | D>E | No |
ClinGen gnomAD |
|
|
CA397252759 rs1273689553 |
277 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA397252755 rs1273689553 |
277 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA397252750 rs1332317683 |
278 | F>L | No |
ClinGen gnomAD |
|
|
rs780293609 CA8307030 |
279 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1315573255 CA397252727 |
280 | L>V | No |
ClinGen gnomAD |
|
|
CA8307028 rs750997262 |
282 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8307027 rs146511012 |
283 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 284 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1417579437 CA397252637 COSM980435 |
286 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 286 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1254225886 CA397252620 |
287 | N>S | No |
ClinGen TOPMed |
|
|
rs1423190750 CA397252597 |
288 | V>A | No |
ClinGen TOPMed |
|
|
COSM1384079 CA8307023 rs760254381 |
288 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA397252566 rs1452188483 |
291 | C>G | No |
ClinGen gnomAD |
|
|
CA397252569 rs1452188483 |
291 | C>R | No |
ClinGen gnomAD |
|
|
CA8307021 rs199757246 |
296 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA397252423 rs1353638270 |
298 | A>V | No |
ClinGen TOPMed |
|
|
rs926195712 CA287137444 |
299 | P>L | No |
ClinGen TOPMed |
|
|
rs776094985 CA8307019 |
300 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA397252367 rs1370766359 |
302 | M>T | No |
ClinGen TOPMed |
|
|
CA287137440 rs1042008302 |
302 | M>V | No |
ClinGen TOPMed |
|
|
rs1343938091 CA397252338 |
304 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 304 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749096951 CA8307016 |
307 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs777497090 CA8307015 |
311 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA8307014 rs768863661 |
311 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA397252176 rs1567648017 |
314 | M>T | No |
ClinGen Ensembl |
|
|
rs1597431591 CA397252184 |
314 | M>V | No |
ClinGen Ensembl |
|
| TCGA novel | 315 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8307012 rs747255738 |
316 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA287137197 rs776284390 |
318 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA397251134 rs1475075693 |
319 | Q>H | No |
ClinGen gnomAD |
|
|
rs200554414 CA8306983 |
322 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200554414 CA8306985 |
322 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8306981 rs139174786 |
322 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139174786 CA8306982 |
322 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200554414 CA8306984 |
322 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1389295625 CA397251082 |
323 | T>A | No |
ClinGen Ensembl |
|
|
rs1488508007 CA397251076 |
323 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 323 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA287137189 rs34013857 |
324 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs923378962 CA287137185 |
326 | P>L | No |
ClinGen TOPMed |
|
|
CA8306979 rs765828500 |
326 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1346430119 CA397251018 |
327 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1346430119 CA397251020 |
327 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1439026480 CA397251012 |
328 | P>S | No |
ClinGen TOPMed |
|
|
rs1290687057 CA397250983 |
330 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs762906578 CA8306977 |
331 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1597431065 CA397250955 |
332 | L>F | No |
ClinGen Ensembl |
|
|
rs1279307753 CA397250945 |
333 | P>L | No |
ClinGen gnomAD |
|
|
CA397250953 rs1371696436 |
333 | P>T | No |
ClinGen gnomAD |
|
|
CA8306976 rs376786553 |
334 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1311231375 CA397250916 |
336 | P>H | No |
ClinGen gnomAD |
|
|
CA8306974 rs761685309 |
337 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8306971 rs372512797 |
338 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8306970 rs368258813 |
340 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397250866 rs1405649294 |
341 | L>V | No |
ClinGen gnomAD |
|
|
rs1475377679 CA397250837 |
344 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8306968 rs749428630 |
346 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA397250794 rs1360542955 |
347 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA397250798 rs1597431037 |
347 | V>M | No |
ClinGen Ensembl |
|
|
CA8306966 rs550531989 |
348 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756674821 CA8306965 |
348 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315696963 CA397250779 |
349 | S>C | No |
ClinGen gnomAD |
|
|
CA397250777 rs1284125059 |
349 | S>T | No |
ClinGen gnomAD |
|
|
COSM1384075 CA8306962 rs143365387 |
352 | F>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1291727661 CA397250736 |
353 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA8306959 rs757822467 |
355 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs148675878 CA8306960 |
355 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751202598 CA8306961 |
355 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750003628 CA8306958 |
356 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA397250691 rs1343375211 |
357 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA397250672 rs1319726558 |
359 | S>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 360 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs565544998 CA8306956 |
362 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776506646 CA8306955 |
365 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8306953 rs759767348 |
367 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs764006805 CA8306954 |
367 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA287137158 rs867866705 |
370 | V>G | No |
ClinGen Ensembl |
|
|
rs774408202 CA8306952 |
371 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1451495799 CA397250532 |
373 | V>G | No |
ClinGen TOPMed |
|
|
CA397250506 rs1255513289 |
376 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 376 | M>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA397250491 rs1350671876 |
377 | R>K | No |
ClinGen gnomAD |
|
|
rs773348634 CA8306948 |
377 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA397250484 rs1169890333 |
378 | C>G | No |
ClinGen gnomAD |
|
|
rs1169890333 CA397250485 |
378 | C>R | No |
ClinGen gnomAD |
|
|
CA8306946 rs748669056 COSM561271 |
380 | P>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA8306947 rs748669056 |
380 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs377318723 CA8306944 |
381 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1297919904 CA397250461 |
381 | S>T | No |
ClinGen gnomAD |
|
|
rs372810070 CA8306941 |
383 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1396466300 CA397250420 |
385 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8306940 rs368542210 |
387 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs753451024 CA8306920 |
388 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1389408960 CA397249933 |
389 | I>L | No |
ClinGen gnomAD |
|
|
CA397249916 rs1416158470 |
390 | I>S | No |
ClinGen gnomAD |
|
|
CA397249923 rs1313034532 |
390 | I>V | No |
ClinGen gnomAD |
|
|
rs1219785472 CA397249905 |
391 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 391 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8306919 rs777843558 |
392 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs752370680 CA8306917 |
394 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397249881 rs767358542 |
394 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8306916 rs767358542 |
394 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763038338 CA8306915 |
395 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397249863 rs1181572893 |
396 | T>S | No |
ClinGen TOPMed |
|
|
rs765491949 CA8306913 |
398 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs370855117 CA287133995 |
399 | I>V | No |
ClinGen ESP gnomAD |
|
|
CA8306910 rs764439174 |
401 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA287133989 rs144038526 |
402 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376212812 CA397249805 |
402 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8306908 rs376212812 |
402 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_083449 rs144038526 CA8306909 |
402 | R>W | 36% of arachidonate 15-lipoxygenase activity [UniProt] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt |
|
rs149525246 CA8306906 |
404 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1055582733 CA287133979 |
405 | T>S | No |
ClinGen TOPMed |
|
|
rs1332971804 CA397249767 |
406 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1228717805 CA397249727 |
410 | D>A | No |
ClinGen TOPMed |
|
|
CA397249706 rs1419012799 |
411 | M>I | No |
ClinGen gnomAD |
|
|
CA397249716 rs1457107779 |
411 | M>V | No |
ClinGen gnomAD |
|
|
CA8306900 rs748139497 |
413 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA397249669 rs1351084809 |
415 | D>N | No |
ClinGen TOPMed |
|
|
rs1241635128 CA397249661 |
415 | D>V | No |
ClinGen TOPMed |
|
|
CA8306899 rs781031624 |
416 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs757419997 CA8306875 |
418 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754118923 CA8306874 |
419 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372379060 CA397249578 |
420 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs764267253 CA8306873 |
420 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA397249565 rs1217016041 |
421 | G>D | No |
ClinGen TOPMed |
|
|
rs61099320 CA287133871 VAR_083450 |
422 | G>E | loss of arachidonate 15-lipoxygenase activity [UniProt] | No |
ClinGen Ensembl UniProt |
|
CA8306871 VAR_083451 rs147238486 CA8306870 |
422 | G>R | 46% of arachidonate 15-lipoxygenase activity. Does not affect protein affinity for (9Z,12Z)-octadecadienoate [UniProt] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt |
|
CA8306872 rs147238486 |
422 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760125473 CA8306869 |
423 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs936724104 CA287133867 |
425 | H>R | No |
ClinGen TOPMed |
|
|
rs138381552 RCV000918738 CA8306867 |
426 | V>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA287133861 rs143864254 |
426 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA397249514 rs1168065834 |
427 | Q>* | No |
ClinGen gnomAD |
|
|
CA8306866 rs762655848 |
427 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA8306864 rs769389088 |
430 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA8306863 rs140549513 |
431 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8306862 rs202058747 |
432 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA397249448 rs1439226807 |
433 | G>V | No |
ClinGen gnomAD |
|
|
rs1249089898 CA397249440 |
434 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1597429687 CA397249443 |
434 | A>T | No |
ClinGen Ensembl |
|
|
rs1249089898 CA397249439 |
434 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1347966262 CA397249404 |
438 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA8306859 rs779781592 |
440 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397249373 rs779781592 |
440 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397249348 rs1567646737 |
442 | C>Y | No |
ClinGen Ensembl |
|
|
rs745702295 CA287133842 |
443 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745702295 CA8306855 |
443 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs559512165 CA8306854 |
444 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1273921286 CA397249333 |
444 | P>R | No |
ClinGen TOPMed |
|
|
rs559512165 CA8306853 |
444 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs559512165 CA287133838 |
444 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA8306852 rs752759635 |
446 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1567646708 CA397249319 |
446 | D>N | No |
ClinGen Ensembl |
|
|
rs1412658753 CA397249298 |
447 | L>F | No |
ClinGen gnomAD |
|
|
rs755494483 CA8306850 |
447 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs750817963 CA8306846 |
449 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA8306847 rs763395191 |
449 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763395191 CA397249282 |
449 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371901374 CA8306845 |
450 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397249272 rs776154712 |
450 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA8306843 rs776154712 |
450 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs371901374 CA8306844 |
450 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1421451422 CA397249264 |
451 | G>E | No |
ClinGen TOPMed |
|
|
rs1379383316 CA397249268 |
451 | G>R | No |
ClinGen gnomAD |
|
|
CA397249263 rs1421451422 |
451 | G>V | No |
ClinGen TOPMed |
|
|
CA287133814 rs757688956 |
452 | L>F | No |
ClinGen Ensembl |
|
|
CA287133811 rs148338933 |
454 | G>R | No |
ClinGen ESP gnomAD |
|
|
CA397249232 rs1285505086 |
455 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1285505086 CA397249236 |
455 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA397249220 rs1597429597 |
456 | K>R | No |
ClinGen Ensembl |
|
|
CA397249199 rs1327529116 |
458 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 459 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA397249198 rs1234108539 |
459 | F>V | No |
ClinGen gnomAD |
|
|
rs772058099 CA8306839 |
460 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM980422 CA8306840 rs775387753 |
460 | Y>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs748340718 CA8306835 |
461 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17852628 CA287133806 VAR_035038 |
461 | A>P | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
CA8306837 rs17852628 |
461 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA8306836 rs748340718 |
461 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8306834 rs781382881 |
462 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs769411680 CA8306832 |
463 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143347429 COSM980421 CA8306831 |
464 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1301041526 COSM365694 CA397249118 |
466 | R>Q | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA8306829 rs144526853 COSM1182571 |
466 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8306828 rs765538077 |
467 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397249069 rs1567646652 |
470 | I>V | No |
ClinGen Ensembl |
|
|
CA8306827 rs756889710 |
471 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753455638 CA8306826 |
472 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760167475 CA8306825 |
473 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8306823 rs748151554 |
473 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8306824 rs760167475 |
473 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397248962 rs1457069661 |
477 | G>E | No |
ClinGen gnomAD |
|
|
CA397248956 rs113086058 |
478 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA8306794 rs772009728 |
478 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs149209530 CA8306793 |
479 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397248954 rs941936589 |
479 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs941936589 CA287133648 |
479 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs779272774 CA8306792 |
480 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 480 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8306789 rs778127458 |
483 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs568434805 CA8306790 |
483 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA397248928 rs778127458 |
483 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA397248923 rs1397780131 |
484 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1481092836 CA397248920 |
484 | K>R | No |
ClinGen gnomAD |
|
|
rs548580389 CA8306788 |
485 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8306785 rs190386185 |
487 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs190386185 CA287133631 |
487 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8306784 rs143980505 |
488 | A>S | No |
ClinGen ESP ExAC TOPMed |
|
|
CA397248892 rs1313783005 |
489 | V>G | No |
ClinGen gnomAD |
|
|
CA8306783 rs766159957 |
489 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA8306781 rs750193083 |
492 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1407520706 CA397248487 |
496 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA397248492 rs1407520706 |
496 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
COSM1182572 rs765155392 CA8306780 |
500 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM26575 CA287133617 rs920143506 |
500 | R>Q | liver skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA397248345 rs1263756145 |
503 | T>S | No |
ClinGen TOPMed |
|
|
rs1259543961 CA397248304 |
506 | G>E | No |
ClinGen TOPMed |
|
|
rs775548493 CA8306778 COSM2696335 |
506 | G>R | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA397248306 rs775548493 |
506 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140256452 CA287133610 |
509 | G>R | No |
ClinGen ESP |
|
|
rs201039064 CA8306777 |
511 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201039064 CA397248239 |
511 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397248233 rs1414553961 |
511 | Q>P | No |
ClinGen gnomAD |
|
|
rs759533062 CA8306776 |
512 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8306775 rs146693201 |
513 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771288255 CA8306774 |
513 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA287133374 rs773687745 |
514 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8306755 rs773687745 |
514 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1709605 rs748459113 CA8306753 |
516 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA397247966 rs1318989275 |
520 | Q>R | No |
ClinGen gnomAD |
|
|
rs1168114919 CA397247953 |
521 | A>T | No |
ClinGen TOPMed |
|
|
rs149679697 CA397247938 |
522 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8306750 rs779612806 |
522 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779612806 CA8306749 |
522 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8306751 rs779612806 |
522 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149679697 CA8306752 |
522 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA397247931 rs1165219467 |
523 | D>N | No |
ClinGen gnomAD |
|
|
CA397247885 rs1367932266 |
524 | Q>H | No |
ClinGen gnomAD |
|
|
rs1367940057 CA397247891 |
524 | Q>R | No |
ClinGen TOPMed |
|
|
rs979084359 CA287133358 |
525 | V>A | No |
ClinGen TOPMed |
|
|
CA287133353 rs868055472 |
530 | T>N | No |
ClinGen Ensembl |
|
|
CA8306746 rs778987195 |
531 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs201836513 CA8306747 |
531 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757263469 CA8306745 |
532 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs986753287 CA287133345 |
533 | I>V | No |
ClinGen TOPMed |
|
|
CA397247638 rs1355950737 |
537 | T>S | No |
ClinGen TOPMed |
|
|
CA8306742 rs564865192 |
538 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs552591899 CA397247564 |
540 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8306740 rs751774986 |
540 | H>Y | No |
ClinGen ExAC |
|
|
rs972486094 CA287133326 |
541 | A>G | No |
ClinGen Ensembl |
|
|
CA287133328 rs917942648 COSM1479677 |
541 | A>T | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA287133323 rs962046079 |
542 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA397247519 rs1332030630 |
543 | V>G | No |
ClinGen gnomAD |
|
|
CA8306737 rs763008416 |
543 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 545 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1371952199 CA397247376 |
548 | L>P | No |
ClinGen gnomAD |
|
|
rs577136020 CA287133257 |
549 | D>N | No |
ClinGen 1000Genomes |
|
|
CA8306717 rs139746240 |
550 | W>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1041613338 CA287133252 |
550 | W>L | No |
ClinGen TOPMed |
|
| TCGA novel | 550 | W>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761838242 CA8306716 |
551 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1597428877 CA397247341 |
551 | Y>S | No |
ClinGen Ensembl |
|
|
rs777173779 CA8306715 |
553 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA8306714 rs778379310 |
554 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8306713 rs761093526 |
555 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA397247266 rs1274227525 |
557 | A>T | No |
ClinGen TOPMed |
|
|
CA397247259 rs1203747424 |
557 | A>V | No |
ClinGen gnomAD |
|
|
rs771790003 CA8306711 |
558 | P>S | No |
ClinGen ExAC |
|
|
CA397247242 rs1281255426 |
559 | C>F | No |
ClinGen gnomAD |
|
|
CA287133225 rs979177620 |
561 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA397247213 rs1289272347 |
561 | M>T | No |
ClinGen gnomAD |
|
|
rs543478770 CA8306707 |
562 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770448397 CA8306708 |
562 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747873506 CA8306704 |
564 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8306705 rs747873506 |
564 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138342123 CA8306702 |
565 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201278134 CA8306699 |
567 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA287133193 rs373939688 |
569 | K>R | No |
ClinGen ESP |
|
|
CA397247092 rs918185169 |
570 | D>N | No |
ClinGen TOPMed |
|
|
CA287133191 rs918185169 |
570 | D>Y | No |
ClinGen TOPMed |
|
|
CA8306697 rs372580352 |
571 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8306695 rs761098208 |
572 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8306696 rs764593975 |
572 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs768026830 CA8306693 |
576 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397246999 rs1210920473 |
577 | M>T | No |
ClinGen gnomAD |
|
|
rs149366613 CA8306692 |
578 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA287133163 rs985307514 |
579 | T>I | No |
ClinGen Ensembl |
|
|
CA287133166 rs909215074 |
579 | T>P | No |
ClinGen Ensembl |
|
|
rs538996790 CA8306690 |
581 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1024297916 CA287133156 |
582 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs762523931 CA8306689 |
582 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA397246941 rs1024297916 |
582 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA397246928 rs1381883057 |
583 | F>I | No |
ClinGen gnomAD |
|
|
rs1320990471 CA397246910 |
584 | H>Y | No |
ClinGen gnomAD |
|
|
CA8306688 rs772605354 |
585 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA397246890 rs748113115 |
586 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8306686 rs748113115 |
586 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1029054173 CA287133146 |
590 | M>I | No |
ClinGen Ensembl |
|
|
CA8306685 rs781145163 |
590 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA287133143 rs975931882 |
594 | W>* | No |
ClinGen Ensembl |
|
|
rs1444587939 CA397246801 |
594 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs746860191 CA8306683 |
595 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1014694663 CA287133138 |
596 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1555549383 CA8306681 |
597 | G>R | No |
ClinGen Ensembl |
|
|
rs377228606 COSM354837 CA8306680 |
599 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM980411 rs868318076 CA287133132 |
599 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA397246730 rs141061806 |
602 | V>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8306678 rs141061806 |
602 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs138472652 CA397246722 |
603 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138472652 RCV000890494 CA8306676 |
603 | M>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8306657 rs756242004 |
604 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA397246664 rs1567646070 |
605 | A>T | No |
ClinGen Ensembl |
|
|
CA287133063 rs755005094 |
608 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA397246620 rs1372948582 |
609 | H>D | No |
ClinGen gnomAD |
|
|
rs781764448 CA8306655 |
609 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8306651 rs758835357 |
611 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs758835357 CA8306652 |
611 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA287133051 rs751640224 |
612 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs750018725 CA8306649 |
614 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA8306648 rs145920643 |
615 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8306645 rs763960968 |
617 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8306646 rs41432647 VAR_083452 |
617 | P>S | does not affect arachidonate 15-lipoxygenase activity. Does not affect protein affinity for (9Z,12Z)-octadecadienoate [UniProt] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt |
|
CA397246508 rs775312952 |
619 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8306643 rs775312952 |
619 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8306644 rs760627092 |
619 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs771735674 CA8306642 |
621 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1246107464 CA397246433 |
626 | F>L | No |
ClinGen TOPMed |
|
|
rs745727145 CA8306641 |
627 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1396495943 CA397246389 |
630 | L>Q | No |
ClinGen gnomAD |
|
|
CA397246391 rs1291170114 |
630 | L>V | No |
ClinGen TOPMed |
|
|
rs1211129505 CA397246381 |
631 | A>D | No |
ClinGen TOPMed |
|
|
rs1211129505 CA397246377 |
631 | A>V | No |
ClinGen TOPMed |
|
|
rs1214019166 CA397246363 |
633 | L>R | No |
ClinGen TOPMed |
|
|
CA8306638 rs748175688 |
634 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8306637 rs781438146 |
636 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA8306636 rs755496566 |
637 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8306634 rs371713848 |
639 | I>T | No |
ClinGen ESP ExAC |
|
|
CA8306631 rs764803400 |
640 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8306632 rs202055757 |
640 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1233600281 CA397246241 |
644 | L>P | No |
ClinGen gnomAD |
|
|
rs756915671 CA8306629 |
645 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA397246202 rs1484137694 |
647 | P>L | No |
ClinGen gnomAD |
|
|
CA8306626 rs760274100 |
648 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763623532 CA8306627 |
648 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs149051361 CA287133011 |
648 | Y>H | No |
ClinGen ESP |
|
|
CA397246189 rs1269621174 |
649 | E>K | No |
ClinGen gnomAD |
|
|
rs909234259 CA287133005 |
651 | L>Q | No |
ClinGen Ensembl |
|
|
rs767548849 CA8306624 |
652 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs144962793 CA8306625 |
652 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8306623 rs759246570 |
654 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs770087312 CA8306621 |
655 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762151538 CA8306620 |
657 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs776815094 CA8306619 |
658 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8306618 rs768831797 |
659 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397246065 rs1166956253 |
661 | A>T | No |
ClinGen gnomAD |
|
|
CA8306616 rs780416809 |
661 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1241137047 CA624854368 |
663 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA397246042 rs1330218112 |
663 | I>Q | No |
ClinGen TOPMed |
1 associated diseases with P16050
Without disease ID
5 regional properties for P16050
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | PLAT/LH2 domain | 2 - 114 | IPR001024 |
| domain | Lipoxygenase, C-terminal | 114 - 662 | IPR013819 |
| binding_site | Lipoxygenase, iron binding site | 355 - 369 | IPR020833 |
| conserved_site | Lipoxygenase, conserved site | 382 - 392 | IPR020834 |
| domain | Lipoxygenase, vertebrates, PLAT domain | 2 - 111 | IPR042062 |
Functions
| Description | ||
|---|---|---|
| EC Number | 1.13.11.12 | With incorporation of two atoms of oxygen |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extrinsic component of cytoplasmic side of plasma membrane | The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to its cytoplasmic surface, but not integrated into the hydrophobic region. |
| lipid droplet | An intracellular non-membrane-bounded organelle comprising a matrix of coalesced lipids surrounded by a phospholipid monolayer. May include associated proteins. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| arachidonate 12(S)-lipoxygenase activity | Catalysis of the reaction: arachidonate + O(2) = (5Z,8Z,10E,12S,14Z)-12-hydroperoxyicosa-5,8,10,14-tetraenoate. |
| arachidonate 15-lipoxygenase activity | Catalysis of the reaction: arachidonate + O2 = (5Z,8Z,11Z,13E)-(15S)-15-hydroperoxyicosa-5,8,11,13-tetraenoate. |
| iron ion binding | Binding to an iron (Fe) ion. |
| linoleate 13S-lipoxygenase activity | Catalysis of the reaction: linoleate + O2 = (9Z,11E)-(13S)-13-hydroperoxyoctadeca-9,11-dienoate. |
| oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen | Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from one donor, and two oxygen atoms is incorporated into a donor. |
| phosphatidylinositol-4,5-bisphosphate binding | Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions. |
25 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic cell clearance | The recognition and removal of an apoptotic cell by a neighboring cell or by a phagocyte. |
| arachidonic acid metabolic process | The chemical reactions and pathways involving arachidonic acid, a straight chain fatty acid with 20 carbon atoms and four double bonds per molecule. Arachidonic acid is the all-Z-(5,8,11,14)-isomer. |
| bone mineralization | The deposition of hydroxyapatite, a form of calcium phosphate with the formula Ca10(PO4)6(OH)2, in bone tissue. |
| cellular response to calcium ion | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus. |
| cellular response to interleukin-13 | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-13 stimulus. |
| fatty acid oxidation | The removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen. |
| hepoxilin biosynthetic process | The chemical reactions and pathways resulting in the formation of hepoxilins, a class of bioactive icosanoids with roles in the regulation of cell physiology. |
| inflammatory response | The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
| linoleic acid metabolic process | The chemical reactions and pathways involving linoleic acid, an unsaturated omega-6 fatty acid that has the molecular formula C18H32O2. |
| lipid metabolic process | The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. |
| lipid oxidation | The removal of one or more electrons from a lipid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen. |
| lipoxin A4 biosynthetic process | The chemical reactions and pathways resulting in the formation of lipoxin A4. Lipoxin A4 is a C20 hydroxy fatty acid having (5S)-, (6R)- and (15S)-hydroxy groups as well as (7E)- (9E)-, (11Z)- and (13E)-double bonds. |
| lipoxygenase pathway | The chemical reactions and pathways by which an unsaturated fatty acid (such as arachidonic acid or linolenic acid) is converted to other compounds, and in which the first step is hydroperoxide formation catalyzed by lipoxygenase. |
| long-chain fatty acid biosynthetic process | The chemical reactions and pathways resulting in the formation of long-chain fatty acids, any fatty acid with a chain length between C13 and C22. |
| negative regulation of adaptive immune response | Any process that stops, prevents, or reduces the frequency, rate, or extent of an adaptive immune response. |
| ossification | The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. |
| phosphatidylethanolamine biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylethanolamine, any of a class of glycerophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of ethanolamine. |
| positive regulation of actin filament polymerization | Any process that activates or increases the frequency, rate or extent of actin polymerization. |
| positive regulation of cell-substrate adhesion | Any process that increases the frequency, rate or extent of cell-substrate adhesion. Cell-substrate adhesion is the attachment of a cell to the underlying substrate via adhesion molecules. |
| positive regulation of ERK1 and ERK2 cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
| regulation of engulfment of apoptotic cell | Any process that modulates the frequency, rate or extent of engulfment of apoptotic cell. |
| regulation of inflammatory response | Any process that modulates the frequency, rate or extent of the inflammatory response, the immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. |
| regulation of peroxisome proliferator activated receptor signaling pathway | Any process that modulates the frequency, rate or extent of the peroxisome proliferator activated receptor signaling pathway. |
| response to endoplasmic reticulum stress | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stress acting at the endoplasmic reticulum. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen. |
| wound healing | The series of events that restore integrity to a damaged tissue, following an injury. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P38419 | CM-LOX1 | Lipoxygenase 7, chloroplastic | Oryza sativa subsp japonica (Rice) | PR |
| P09186 | LOX1.3 | Seed linoleate 9S-lipoxygenase-3 | Glycine max (Soybean) (Glycine hispida) | PR |
| Q06327 | LOX1 | Linoleate 9S-lipoxygenase 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LUW0 | LOX5 | Linoleate 9S-lipoxygenase 5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FNX8 | LOX4 | Lipoxygenase 4, chloroplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P38418 | LOX2 | Lipoxygenase 2, chloroplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P38415 | LOX1.1 | Linoleate 9S-lipoxygenase A | Solanum lycopersicum (Tomato) (Lycopersicon esculentum) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGLYRIRVST | GASLYAGSNN | QVQLWLVGQH | GEAALGKRLW | PARGKETELK | VEVPEYLGPL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LFVKLRKRHL | LKDDAWFCNW | ISVQGPGAGD | EVRFPCYRWV | EGNGVLSLPE | GTGRTVGEDP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QGLFQKHREE | ELEERRKLYR | WGNWKDGLIL | NMAGAKLYDL | PVDERFLEDK | RVDFEVSLAK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GLADLAIKDS | LNVLTCWKDL | DDFNRIFWCG | QSKLAERVRD | SWKEDALFGY | QFLNGANPVV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LRRSAHLPAR | LVFPPGMEEL | QAQLEKELEG | GTLFEADFSL | LDGIKANVIL | CSQQHLAAPL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VMLKLQPDGK | LLPMVIQLQL | PRTGSPPPPL | FLPTDPPMAW | LLAKCWVRSS | DFQLHELQSH |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LLRGHLMAEV | IVVATMRCLP | SIHPIFKLII | PHLRYTLEIN | VRARTGLVSD | MGIFDQIMST |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GGGGHVQLLK | QAGAFLTYSS | FCPPDDLADR | GLLGVKSSFY | AQDALRLWEI | IYRYVEGIVS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LHYKTDVAVK | DDPELQTWCR | EITEIGLQGA | QDRGFPVSLQ | ARDQVCHFVT | MCIFTCTGQH |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ASVHLGQLDW | YSWVPNAPCT | MRLPPPTTKD | ATLETVMATL | PNFHQASLQM | SITWQLGRRQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PVMVAVGQHE | EEYFSGPEPK | AVLKKFREEL | AALDKEIEIR | NAKLDMPYEY | LRPSVVENSV |
| AI |