P04035
Gene name |
HMGCR |
Protein name |
3-hydroxy-3-methylglutaryl-coenzyme A reductase |
Names |
HMG-CoA reductase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3156 |
EC number |
1.1.1.34: With NAD(+) or NADP(+) as acceptor |
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
23 structures for P04035
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1DQ8 | X-ray | 210 A | A/B/C/D | 426-888 | PDB |
| 1DQ9 | X-ray | 280 A | A/B/C/D | 426-888 | PDB |
| 1DQA | X-ray | 200 A | A/B/C/D | 426-888 | PDB |
| 1HW8 | X-ray | 210 A | A/B/C/D | 426-888 | PDB |
| 1HW9 | X-ray | 233 A | A/B/C/D | 426-888 | PDB |
| 1HWI | X-ray | 230 A | A/B/C/D | 426-888 | PDB |
| 1HWJ | X-ray | 226 A | A/B/C/D | 426-888 | PDB |
| 1HWK | X-ray | 222 A | A/B/C/D | 426-888 | PDB |
| 1HWL | X-ray | 210 A | A/B/C/D | 426-888 | PDB |
| 2Q1L | X-ray | 205 A | A/B/C/D | 441-875 | PDB |
| 2Q6B | X-ray | 200 A | A/B/C/D | 441-875 | PDB |
| 2Q6C | X-ray | 200 A | A/B/C/D | 441-875 | PDB |
| 2R4F | X-ray | 170 A | A/B/C/D | 441-875 | PDB |
| 3BGL | X-ray | 223 A | A/B/C/D | 441-875 | PDB |
| 3CCT | X-ray | 212 A | A/B/C/D | 441-875 | PDB |
| 3CCW | X-ray | 210 A | A/B/C/D | 441-875 | PDB |
| 3CCZ | X-ray | 170 A | A/B/C/D | 441-875 | PDB |
| 3CD0 | X-ray | 240 A | A/B/C/D | 441-875 | PDB |
| 3CD5 | X-ray | 239 A | A/B/C/D | 441-875 | PDB |
| 3CD7 | X-ray | 205 A | A/B/C/D | 441-875 | PDB |
| 3CDA | X-ray | 207 A | A/B/C/D | 441-875 | PDB |
| 3CDB | X-ray | 230 A | A/B/C/D | 441-875 | PDB |
| AF-P04035-F1 | Predicted | AlphaFoldDB |
433 variants for P04035
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs751171582 CA360299141 |
7 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360299139 rs751171582 |
7 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751171582 CA3308353 |
7 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1051046202 CA120881531 |
8 | M>T | No |
ClinGen Ensembl |
|
|
rs1267761914 CA360299147 |
8 | M>V | No |
ClinGen gnomAD |
|
|
rs1399840363 CA360299169 |
9 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 10 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3308354 rs763611929 |
14 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360299236 rs763611929 |
14 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360299260 rs1201009521 |
16 | H>P | No |
ClinGen gnomAD |
|
|
rs1416769598 CA360299275 |
17 | P>A | No |
ClinGen gnomAD |
|
|
rs780893840 CA3308355 |
20 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA3308356 rs745371345 |
21 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273881990 CA360299372 |
22 | V>A | No |
ClinGen TOPMed |
|
|
rs1218851648 CA360299399 |
25 | V>M | No |
ClinGen TOPMed |
|
|
rs367706109 CA3308359 |
27 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360299463 rs1561194850 |
30 | C>G | No |
ClinGen Ensembl |
|
|
CA3308360 rs769016687 |
31 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs371769368 CA3308361 |
32 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA120881608 rs1009595037 |
35 | N>S | No |
ClinGen Ensembl |
|
|
CA3308362 rs201541062 |
36 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360299615 rs1381654025 |
40 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3308363 rs772179314 |
41 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs773624826 CA3308364 |
43 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 47 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369987181 CA3308367 |
50 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360299772 rs369987181 |
50 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3308368 rs764673047 |
53 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3308397 rs765808919 |
56 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA360300021 rs1232088692 |
59 | S>G | No |
ClinGen gnomAD |
|
|
rs1178012749 CA360300072 |
62 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 64 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1479509540 CA360300133 COSM3393666 |
67 | I>V | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1580655061 CA360300157 |
69 | R>* | No |
ClinGen Ensembl |
|
|
CA360300158 rs1430662318 |
69 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1487837370 CA360300170 |
70 | C>F | No |
ClinGen gnomAD |
|
| TCGA novel | 70 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1320230215 CA360300182 |
71 | I>V | No |
ClinGen Ensembl |
|
|
CA3308398 rs753282492 |
73 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA360300377 rs1354325261 |
84 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs372565038 CA3308399 COSM3429632 |
84 | R>H | large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3308421 rs758983271 |
97 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA360300925 rs1222036418 |
109 | V>G | No |
ClinGen gnomAD |
|
|
CA360301013 rs1580655350 |
114 | L>V | No |
ClinGen Ensembl |
|
|
CA3308423 rs751963403 |
115 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1335822230 CA360301109 |
118 | L>W | No |
ClinGen gnomAD |
|
|
rs781242828 CA3308425 |
119 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1327209409 CA360302334 |
126 | P>S | No |
ClinGen TOPMed |
|
|
CA360302377 rs1458297649 |
128 | F>L | No |
ClinGen gnomAD |
|
|
rs1334645817 CA360302446 |
131 | L>V | No |
ClinGen gnomAD |
|
|
rs538995429 CA360302486 |
133 | D>H | No |
ClinGen gnomAD |
|
|
CA120883929 rs538995429 |
133 | D>N | No |
ClinGen gnomAD |
|
|
CA3308445 rs781639869 |
136 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs750553430 CA3308446 |
137 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs756363474 CA3308447 |
139 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3308448 rs780209976 |
142 | K>T | No |
ClinGen ExAC |
|
|
rs749358438 CA3308449 |
145 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360302688 rs1261841370 |
146 | S>R | No |
ClinGen gnomAD |
|
|
CA120883957 rs112503211 |
147 | S>P | No |
ClinGen Ensembl |
|
|
CA360302906 rs1196744403 |
151 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1483815731 CA360302894 |
151 | D>N | No |
ClinGen gnomAD |
|
|
CA3308462 rs774953568 |
155 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA120885119 rs761181428 |
157 | I>L | No |
ClinGen Ensembl |
|
|
CA3308464 rs368129510 |
159 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3308465 rs139887868 |
159 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360303063 rs1439339442 |
163 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 164 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360303104 rs1371472683 |
166 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1045190482 COSM1438564 CA120885147 |
167 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs754097995 CA3308468 |
171 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA360303184 rs1273046862 |
172 | A>V | No |
ClinGen TOPMed |
|
|
CA120885190 rs776974055 |
173 | L>F | No |
ClinGen Ensembl |
|
|
CA3308469 rs755011121 |
173 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA360303208 rs1164535656 |
175 | E>* | No |
ClinGen gnomAD |
|
|
CA120885234 rs528117857 |
176 | C>R | No |
ClinGen gnomAD |
|
|
rs778985768 CA3308470 |
178 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1219815518 CA360303313 |
181 | V>A | No |
ClinGen gnomAD |
|
|
rs757219169 CA3308472 |
182 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA360303340 rs1488541764 |
183 | T>N | No |
ClinGen gnomAD |
|
|
rs1259637958 CA360303357 |
184 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA360117293 rs1321843698 |
188 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs552138456 CA120915359 |
188 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA360117370 rs1580660222 |
193 | M>L | No |
ClinGen Ensembl |
|
|
CA3308493 rs758462507 |
193 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs200260317 CA120915379 |
202 | L>V | No |
ClinGen gnomAD |
|
|
rs750361584 CA3308495 |
204 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3308496 rs148335635 |
204 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140490718 CA3308498 |
206 | F>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360117597 rs768419319 |
206 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360117620 rs1208512488 |
208 | F>L | No |
ClinGen TOPMed |
|
|
rs1314438103 CA360117637 |
209 | M>L | No |
ClinGen TOPMed |
|
|
rs778768497 CA3308500 |
214 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA360117717 rs1237825871 |
215 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs147043821 CA3308501 |
218 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360117773 rs937171936 CA120915396 |
219 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 221 | E>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3308511 rs373417164 |
224 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA360117885 rs373417164 |
224 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1051691944 CA120915498 |
225 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs750322057 CA3308512 |
226 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3308513 rs756129604 |
227 | R>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 228 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1254056455 CA360117953 |
229 | G>V | No |
ClinGen gnomAD |
|
|
rs780208977 CA3308514 |
230 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3308515 rs753673014 COSM3768864 |
230 | R>H | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA360117966 rs753673014 |
230 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA120915532 rs1005567773 |
232 | I>V | No |
ClinGen TOPMed |
|
|
rs1200550176 CA360118017 |
233 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs778678847 CA3308517 |
233 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA360118061 rs1168738941 CA360118062 |
236 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs763132410 CA120915539 |
236 | S>T | No |
ClinGen Ensembl |
|
|
CA3308518 rs747786153 |
240 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1287584125 CA360118139 |
241 | V>G | No |
ClinGen TOPMed |
|
|
CA360118177 rs1309410379 |
244 | E>K | No |
ClinGen gnomAD |
|
|
rs1369619869 CA360118294 |
247 | N>K | No |
ClinGen gnomAD |
|
|
CA120915573 rs879389443 |
247 | N>S | No |
ClinGen gnomAD |
|
|
CA3308524 rs777178244 COSM3828419 |
249 | P>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA360118365 rs1397491532 |
251 | P>H | No |
ClinGen TOPMed |
|
|
rs770177852 CA3308526 |
251 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1379638521 CA360118413 |
254 | Q>* | No |
ClinGen TOPMed |
|
|
rs1206139538 COSM3828421 CA360118436 |
254 | Q>H | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 257 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360118560 rs1276987292 |
259 | I>F | No |
ClinGen gnomAD |
|
|
CA360118739 rs1290662562 |
261 | S>C | No |
ClinGen gnomAD |
|
|
rs1174834522 CA360118815 |
265 | V>A | No |
ClinGen TOPMed |
|
|
CA3308544 rs781640240 |
265 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3308545 rs781640240 |
265 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3308546 rs770089730 |
267 | V>F | No |
ClinGen ExAC |
|
|
CA3308548 rs377514952 |
269 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1472261028 CA360118893 |
270 | H>Y | No |
ClinGen gnomAD |
|
|
CA120915882 rs1025150103 |
272 | R>C | No |
ClinGen TOPMed |
|
|
rs768747516 CA3308549 |
272 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA360119022 rs1415352636 |
274 | I>M | No |
ClinGen gnomAD |
|
|
CA120915895 rs1051258640 |
275 | A>S | No |
ClinGen Ensembl |
|
|
CA360119070 rs1467674358 |
276 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs544999212 CA120915907 |
276 | D>V | No |
ClinGen 1000Genomes |
|
|
COSM1642787 rs144780232 CA3308552 |
277 | P>L | stomach [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA3308551 rs774684544 |
277 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398934713 CA360119111 |
278 | S>C | No |
ClinGen gnomAD |
|
| rs554100316 | 279 | P>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360119165 rs1334440584 |
280 | Q>H | No |
ClinGen gnomAD |
|
|
rs1014962118 CA120915926 |
281 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs767738315 CA3308554 |
282 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA360119246 rs1284931549 |
283 | T>I | No |
ClinGen gnomAD |
|
|
CA3308556 rs759558565 |
286 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1268105693 CA360119332 |
287 | S>A | No |
ClinGen gnomAD |
|
|
CA3308557 rs139776831 |
288 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360119381 rs1238114836 |
289 | V>I | No |
ClinGen TOPMed |
|
|
rs968339885 CA120915945 |
290 | S>P | No |
ClinGen Ensembl |
|
|
CA360119433 rs1211048424 |
291 | L>I | No |
ClinGen gnomAD |
|
|
CA3308558 rs752430097 |
293 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3308560 rs763628844 |
294 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA120915993 rs1029103328 |
303 | P>L | No |
ClinGen TOPMed |
|
|
CA3308563 rs780697550 |
305 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780697550 CA3308564 |
305 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1034058316 CA120916028 |
308 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA120916013 rs946025973 |
308 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3308565 rs756578585 |
309 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA360119882 rs1396354367 |
310 | F>I | No |
ClinGen gnomAD |
|
|
rs191835914 CA3308567 |
311 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs191835914 CA3308566 |
311 | Y>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755250925 CA3308586 |
315 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs577513968 CA120916167 |
316 | I>M | No |
ClinGen Ensembl |
|
|
rs1299874052 CA360120181 |
316 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1181601971 CA360120242 |
318 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
TCGA novel CA360120212 rs1580661332 |
318 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs779431841 CA3308587 |
320 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA360120328 rs1234503403 |
322 | Q>K | No |
ClinGen gnomAD |
|
|
rs1258120929 CA360120360 |
323 | V>I | No |
ClinGen gnomAD |
|
|
CA3308589 rs772418448 |
324 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3308588 rs748312589 |
324 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1274862704 CA360120542 |
330 | L>F | No |
ClinGen gnomAD |
|
|
rs1483764038 CA360120556 |
331 | L>F | No |
ClinGen gnomAD |
|
|
rs1207529910 CA360120681 |
333 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1561200001 CA360120830 |
338 | F>C | No |
ClinGen Ensembl |
|
|
CA360120810 rs1200812097 |
338 | F>I | No |
ClinGen gnomAD |
|
| TCGA novel | 338 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3308591 rs559001934 |
342 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3308592 rs370386875 |
343 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360121035 rs1168235119 |
344 | T>I | No |
ClinGen gnomAD |
|
|
CA3308593 rs775249201 |
347 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA360121323 rs1291850857 |
354 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs144482710 CA3308597 COSM450053 |
354 | I>M | Variant assessed as Somatic; 0.0001392 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs374534527 CA3308596 |
354 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3308598 rs774131030 |
355 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 356 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360121439 rs1476406557 |
359 | V>G | No |
ClinGen TOPMed |
|
|
rs767134717 CA3308600 |
360 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 362 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs934071408 CA120916274 |
364 | V>I | No |
ClinGen Ensembl |
|
|
rs760064646 CA3308602 |
365 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760064646 CA360121598 |
365 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3308604 rs780343008 |
367 | N>S | Variant assessed as Somatic; 4.652e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA3308606 rs200102303 |
368 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1488490498 CA360121748 |
371 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3308607 rs779630004 |
371 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360121800 rs1561200130 |
374 | M>V | No |
ClinGen Ensembl |
|
|
CA3308608 rs753098010 |
377 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 380 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1172684208 CA360121974 |
382 | C>W | No |
ClinGen TOPMed |
|
|
CA360122022 rs1410434945 |
385 | V>A | No |
ClinGen TOPMed |
|
|
rs1188928731 CA360122079 |
388 | E>G | No |
ClinGen gnomAD |
|
|
CA360122066 rs1424435627 |
388 | E>K | No |
ClinGen TOPMed |
|
|
rs1391085687 CA360122098 |
389 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA120916295 rs953466803 |
392 | N>T | No |
ClinGen TOPMed |
|
|
CA360122158 rs371909330 |
393 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376488768 CA3308610 |
393 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360122171 rs1256523877 |
394 | E>Q | No |
ClinGen TOPMed |
|
|
CA3308611 rs747283372 |
397 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1301923319 CA360122438 |
406 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 409 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3308631 rs751667502 |
409 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 410 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3308632 rs757499420 |
410 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA3308633 rs781331129 |
411 | N>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs201862213 CA3308634 |
411 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1269895716 CA360122587 |
413 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1310241139 CA360123383 |
414 | T>I | No |
ClinGen gnomAD |
|
|
CA3308636 rs778783315 |
415 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1013975113 CA120916386 |
418 | G>S | No |
ClinGen Ensembl |
|
|
CA360123441 rs1483699305 |
418 | G>V | No |
ClinGen gnomAD |
|
|
rs1472268913 CA360123473 |
421 | S>F | No |
ClinGen gnomAD |
|
|
rs1183580711 CA360123477 |
422 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA360123481 rs1410742369 |
423 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA120916407 rs200965407 |
424 | D>G | No |
ClinGen 1000Genomes |
|
|
rs146188615 CA3308639 |
424 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146188615 CA3308640 |
424 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 426 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 428 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360123532 rs1376043825 |
431 | T>I | No |
ClinGen TOPMed |
|
|
CA360123541 rs1580661906 |
433 | E>K | No |
ClinGen Ensembl |
|
|
CA3308643 rs776190879 |
434 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs759085544 CA3308644 |
434 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 435 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs544507554 CA3308645 |
435 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360123557 rs1365367233 |
435 | E>V | No |
ClinGen gnomAD |
|
|
rs1280869625 CA360123568 |
437 | E>* | No |
ClinGen gnomAD |
|
|
rs776090392 CA3308646 |
437 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs776090392 CA360123571 |
437 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1024480102 CA120916435 |
440 | R>G | No |
ClinGen gnomAD |
|
|
rs1313677728 CA360123587 |
440 | R>K | No |
ClinGen gnomAD |
|
|
rs1213300878 CA360123600 |
442 | P>T | No |
ClinGen gnomAD |
|
|
rs982576013 CA120916456 |
443 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs951205085 CA120916454 |
443 | R>W | No |
ClinGen Ensembl |
|
|
rs1016757703 CA120916460 |
446 | E>G | No |
ClinGen gnomAD |
|
|
CA360123623 rs1580661972 COSM1329450 |
446 | E>K | ovary [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 447 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3308649 rs373019218 |
453 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1166350554 CA360123684 |
454 | N>K | No |
ClinGen gnomAD |
|
|
CA360123682 rs1455823831 |
454 | N>S | No |
ClinGen gnomAD |
|
|
rs139058364 CA3308666 |
460 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360123992 rs1365578921 |
465 | A>V | No |
ClinGen gnomAD |
|
|
CA3308668 rs774760918 |
472 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1227787204 CA360124047 |
473 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs767798571 CA3308670 |
477 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750588723 CA3308671 |
478 | A>D | No |
ClinGen ExAC TOPMed |
|
|
CA360124078 rs1207292158 |
478 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3308673 rs766652276 |
479 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1465577182 CA360124086 |
479 | Y>C | No |
ClinGen gnomAD |
|
|
rs753898770 CA3308674 |
480 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 482 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1297383354 CA360124120 |
484 | L>P | No |
ClinGen gnomAD |
|
|
CA360124163 rs1277575286 |
490 | R>C | No |
ClinGen TOPMed |
|
|
CA360124166 rs1476674144 |
490 | R>H | No |
ClinGen Ensembl |
|
|
rs755095283 CA3308675 |
491 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA3308676 rs777730853 |
492 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs751482798 CA360124177 |
493 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs751482798 CA3308677 |
493 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs757026862 CA3308678 |
495 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360124196 COSM1209815 rs1438532336 |
496 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA360124227 rs1383652871 |
499 | L>P | No |
ClinGen gnomAD |
|
|
rs1320586148 CA360124243 |
500 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1320586148 CA360124245 |
500 | S>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 506 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 510 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768082953 CA3308684 |
515 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227098072 COSM333190 CA360124603 |
520 | S>F | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1357383246 CA360124596 |
520 | S>P | No |
ClinGen gnomAD |
|
|
rs747762857 CA3308703 |
525 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA120918642 rs914988309 |
526 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA360124804 rs1376869865 |
531 | I>T | No |
ClinGen gnomAD |
|
|
rs1478204770 CA360124819 |
532 | G>E | No |
ClinGen gnomAD |
|
|
CA360124867 rs1187682242 |
535 | P>S | No |
ClinGen TOPMed |
|
|
rs1174529981 CA360124931 |
539 | G>R | No |
ClinGen gnomAD |
|
|
CA3308705 rs773755045 |
543 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs747339893 CA360125020 |
544 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA3308706 rs747339893 |
544 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1580665186 CA360125070 |
546 | L>F | No |
ClinGen Ensembl |
|
|
rs1393646412 CA360125078 |
547 | D>N | No |
ClinGen gnomAD |
|
|
rs1249776714 CA360125241 |
555 | M>V | No |
ClinGen TOPMed |
|
|
CA3308708 rs776785264 |
557 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330923036 CA360125328 |
562 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 565 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 567 | N>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 567 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1580665230 CA360125383 |
570 | C>W | No |
ClinGen Ensembl |
|
|
CA3308709 rs759690331 |
574 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs199707836 CA120918835 |
582 | R>* | No |
ClinGen 1000Genomes |
|
|
rs554601529 CA3308724 |
582 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA360125478 rs1177327232 |
584 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA360125501 rs1215403348 |
587 | G>A | No |
ClinGen gnomAD |
|
|
rs910624160 CA120918844 |
588 | M>I | No |
ClinGen Ensembl |
|
|
rs1245965565 CA360125519 |
590 | R>H | No |
ClinGen gnomAD |
|
|
rs1464223287 CA360125538 |
593 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3308725 rs193026499 |
595 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1381726485 CA360125548 |
595 | R>H | No |
ClinGen gnomAD |
|
|
rs746309868 CA3308726 |
596 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3308727 rs769892997 |
597 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs775823773 CA3308728 |
598 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1228694899 CA360125563 |
598 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1417859624 CA360125575 |
600 | C>Y | No |
ClinGen gnomAD |
|
|
CA120918865 rs1047128169 |
603 | A>G | No |
ClinGen TOPMed |
|
|
rs764291157 CA3308730 |
608 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA360125639 rs1157760710 |
609 | L>P | No |
ClinGen gnomAD |
|
|
rs766494307 CA3308733 |
610 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA360125681 rs754848272 |
615 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3308736 rs764763607 |
616 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3308737 rs764763607 COSM1070105 |
616 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1480735729 CA360125699 |
619 | K>Q | No |
ClinGen TOPMed |
|
|
rs1311831907 CA360125786 |
628 | F>L | No |
ClinGen gnomAD |
|
|
CA3308752 rs762045069 |
630 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3308753 rs375866343 |
630 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1198685590 CA360125828 |
631 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs896113185 CA360125834 |
632 | Q>* | No |
ClinGen TOPMed |
|
|
rs896113185 CA120919595 |
632 | Q>K | No |
ClinGen TOPMed |
|
|
rs759209951 CA3308755 |
632 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA360125854 rs1224198024 |
633 | K>R | No |
ClinGen gnomAD |
|
|
rs765098078 CA3308756 |
635 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3308758 rs762597156 |
637 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs539946792 CA120919615 |
638 | I>T | No |
ClinGen Ensembl |
|
|
rs5908 VAR_011954 CA3308759 |
638 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA120919617 rs1026466838 |
639 | A>T | No |
ClinGen TOPMed |
|
|
CA120919623 rs1022189398 |
641 | R>C | No |
ClinGen gnomAD |
|
|
CA120919624 rs369102555 |
643 | L>V | No |
ClinGen ESP |
|
|
CA360126021 rs1345725679 |
646 | R>C | No |
ClinGen TOPMed |
|
|
rs1307067018 CA360126046 |
648 | Q>E | No |
ClinGen TOPMed |
|
|
CA360126110 rs781513148 |
653 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360126108 rs781513148 |
653 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781513148 CA3308762 |
653 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA120919667 rs866589749 |
654 | A>V | No |
ClinGen Ensembl |
|
|
CA3308763 rs750964538 |
659 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs980728664 CA120919694 |
660 | I>T | No |
ClinGen Ensembl |
|
|
rs147818666 CA3308778 |
663 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360126998 rs1409999841 |
663 | G>R | No |
ClinGen gnomAD |
|
|
rs1312499714 CA360127071 |
669 | S>L | No |
ClinGen TOPMed |
|
|
CA3308779 rs200606736 |
673 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360127202 rs1402562693 |
679 | Q>E | No |
ClinGen gnomAD |
|
|
CA3308780 rs750830196 |
679 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3308781 rs756643814 |
680 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs551439059 CA3308784 COSM1070106 |
683 | V>I | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA3308786 rs748402261 |
689 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA360127396 rs1580668539 |
692 | K>N | No |
ClinGen Ensembl |
|
|
rs1470069403 CA360127440 |
696 | I>V | No |
ClinGen gnomAD |
|
|
rs1411619753 CA360127559 |
704 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA360127574 rs747124451 |
705 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA3308789 rs747124451 |
705 | S>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 710 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs565279114 CA3308790 |
711 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3308791 rs373896859 |
716 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1316546330 CA360127905 |
719 | E>K | No |
ClinGen gnomAD |
|
|
rs1219802002 CA360128097 |
720 | V>A | No |
ClinGen gnomAD |
|
|
CA3308809 rs757319136 |
720 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414213066 CA360128245 |
726 | E>Q | No |
ClinGen gnomAD |
|
|
CA3308812 rs768373804 |
728 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1357902378 CA360128335 |
730 | E>D | No |
ClinGen gnomAD |
|
|
CA360128369 rs1561205544 |
733 | I>V | No |
ClinGen Ensembl |
|
|
rs774128813 CA3308813 |
736 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1351777438 CA360128450 |
738 | V>A | No |
ClinGen gnomAD |
|
|
rs772783149 CA3308816 |
743 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs760121176 CA3308820 |
749 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1471016934 CA360128628 |
752 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 756 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360128655 rs1171672440 |
756 | I>T | No |
ClinGen TOPMed |
|
|
CA120921612 rs1022726841 |
756 | I>V | No |
ClinGen TOPMed |
|
|
CA3308825 rs201093294 |
757 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360128663 rs1580668952 |
758 | T>P | No |
ClinGen Ensembl |
|
|
rs1199407498 CA360128669 |
759 | A>T | No |
ClinGen TOPMed |
|
|
rs1457315659 CA360128674 |
759 | A>V | No |
ClinGen TOPMed |
|
|
CA360128675 rs1390180343 |
760 | I>V | No |
ClinGen gnomAD |
|
|
CA3308828 rs750568326 |
761 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1336752860 CA360128689 |
762 | I>L | No |
ClinGen gnomAD |
|
|
rs1336752860 CA360128690 |
762 | I>V | No |
ClinGen gnomAD |
|
|
CA360128765 rs1196883888 |
766 | Q>* | No |
ClinGen TOPMed |
|
|
CA120921770 rs914153249 |
773 | G>A | No |
ClinGen Ensembl |
|
|
CA3308845 rs763336817 |
773 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA360129170 rs1340237683 |
783 | A>E | No |
ClinGen gnomAD |
|
|
CA360129169 rs1324309717 |
783 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 788 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1370645233 CA360129204 |
788 | N>S | No |
ClinGen gnomAD |
|
|
rs751738204 CA3308848 |
796 | T>A | No |
ClinGen ExAC |
|
|
CA360129266 rs1275707157 |
796 | T>I | No |
ClinGen Ensembl |
|
|
CA360129291 rs1580669140 |
800 | I>T | No |
ClinGen Ensembl |
|
|
rs754242135 CA3308849 |
800 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226031610 CA360129408 |
809 | T>N | No |
ClinGen gnomAD |
|
|
CA3308851 rs750482473 |
814 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1211667812 CA360129572 |
818 | L>M | No |
ClinGen gnomAD |
|
|
rs756229383 CA3308852 |
819 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs756229383 CA120921824 |
819 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3308871 rs766378658 |
824 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752608685 CA3308872 |
826 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758261635 CA3308873 |
827 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs764148209 CA3308874 |
829 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs944760621 CA120922154 |
830 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1004498004 CA120922160 |
833 | E>G | No |
ClinGen Ensembl |
|
|
rs924424462 CA120922173 |
836 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA120922169 rs1040440340 |
836 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs780951743 CA3308877 |
837 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259531849 CA360129805 |
837 | Q>R | No |
ClinGen TOPMed |
|
|
rs1452622486 CA360129855 |
840 | R>* | No |
ClinGen gnomAD |
|
|
CA3308879 rs755619444 COSM170965 |
840 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs996854884 CA120922194 |
845 | T>A | No |
ClinGen Ensembl |
|
|
CA360130146 rs1238646352 |
854 | M>I | No |
ClinGen gnomAD |
|
|
CA3308885 rs772452192 |
854 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1304600057 CA360130127 |
854 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 861 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360130242 rs1580669708 |
861 | H>Y | No |
ClinGen Ensembl |
|
|
CA3308887 rs760888650 |
864 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA360130593 rs1208801059 |
864 | K>R | No |
ClinGen gnomAD |
|
|
rs1580669910 CA360130888 |
871 | R>S | No |
ClinGen Ensembl |
|
|
rs1462746598 CA360130813 |
871 | R>T | No |
ClinGen TOPMed |
|
|
rs779242271 CA3308904 |
872 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3308905 rs748671468 |
874 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA360130997 rs1580669940 |
879 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 880 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3308907 rs772352586 |
880 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA3308908 rs778102701 |
880 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747429849 CA3308909 |
882 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA120922402 rs952366348 |
883 | C>S | No |
ClinGen TOPMed |
|
|
CA120922419 rs775023531 |
885 | K>N | No |
ClinGen gnomAD |
|
|
CA3308910 rs771032831 |
886 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1368446713 CA360131094 |
886 | K>T | No |
ClinGen gnomAD |
|
|
CA360131105 rs1302902720 |
887 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs939863860 CA120922434 |
887 | T>I | No |
ClinGen TOPMed gnomAD |
No associated diseases with P04035
4 regional properties for P04035
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Sterol-sensing domain | 61 - 222 | IPR000731 |
| conserved_site | Hydroxymethylglutaryl-CoA reductase, class I/II, conserved site | 646 - 660 | IPR023076-1 |
| conserved_site | Hydroxymethylglutaryl-CoA reductase, class I/II, conserved site | 802 - 809 | IPR023076-2 |
| conserved_site | Hydroxymethylglutaryl-CoA reductase, class I/II, conserved site | 856 - 869 | IPR023076-3 |
Functions
| Description | ||
|---|---|---|
| EC Number | 1.1.1.34 | With NAD(+) or NADP(+) as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| peroxisomal membrane | The lipid bilayer surrounding a peroxisome. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| coenzyme A binding | Binding to coenzyme A, 3'-phosphoadenosine-(5')diphospho(4')pantatheine, an acyl carrier in many acylation and acyl-transfer reactions in which the intermediate is a thiol ester. |
| hydroxymethylglutaryl-CoA reductase (NADPH) activity | Catalysis of the reaction: (R)-mevalonate + CoA + 2 NADP(+) = (S)-3-hydroxy-3-methylglutaryl-CoA + 2 H(+) + 2 NADPH. |
| NADPH binding | Binding to the reduced form, NADPH, of nicotinamide-adenine dinucleotide phosphate, a coenzyme involved in many redox and biosynthetic reactions. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| cholesterol biosynthetic process | The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. |
| coenzyme A metabolic process | The chemical reactions and pathways involving coenzyme A, 3'-phosphoadenosine-(5')diphospho(4')pantatheine, an acyl carrier in many acylation and acyl-transfer reactions in which the intermediate is a thiol ester. |
| isoprenoid biosynthetic process | The chemical reactions and pathways resulting in the formation of an isoprenoid compound, isoprene (2-methylbuta-1,3-diene) or compounds containing or derived from linked isoprene (3-methyl-2-butenylene) residues. |
| negative regulation of amyloid-beta clearance | Any process that stops, prevents or reduces the frequency, rate or extent of amyloid-beta clearance. |
| negative regulation of MAP kinase activity | Any process that stops, prevents, or reduces the frequency, rate or extent of MAP kinase activity. |
| negative regulation of protein catabolic process | Any process that stops, prevents or reduces the frequency, rate or extent of protein catabolic process. |
| negative regulation of protein secretion | Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of a protein from a cell. |
| sterol biosynthetic process | The chemical reactions and pathways resulting in the formation of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. |
| visual learning | Any process in an organism in which a change in behavior of an individual occurs in response to repeated exposure to a visual cue. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLSRLFRMHG | LFVASHPWEV | IVGTVTLTIC | MMSMNMFTGN | NKICGWNYEC | PKFEEDVLSS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DIIILTITRC | IAILYIYFQF | QNLRQLGSKY | ILGIAGLFTI | FSSFVFSTVV | IHFLDKELTG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LNEALPFFLL | LIDLSRASTL | AKFALSSNSQ | DEVRENIARG | MAILGPTFTL | DALVECLVIG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VGTMSGVRQL | EIMCCFGCMS | VLANYFVFMT | FFPACVSLVL | ELSRESREGR | PIWQLSHFAR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VLEEEENKPN | PVTQRVKMIM | SLGLVLVHAH | SRWIADPSPQ | NSTADTSKVS | LGLDENVSKR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IEPSVSLWQF | YLSKMISMDI | EQVITLSLAL | LLAVKYIFFE | QTETESTLSL | KNPITSPVVT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QKKVPDNCCR | REPMLVRNNQ | KCDSVEEETG | INRERKVEVI | KPLVAETDTP | NRATFVVGNS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SLLDTSSVLV | TQEPEIELPR | EPRPNEECLQ | ILGNAEKGAK | FLSDAEIIQL | VNAKHIPAYK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LETLMETHER | GVSIRRQLLS | KKLSEPSSLQ | YLPYRDYNYS | LVMGACCENV | IGYMPIPVGV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| AGPLCLDEKE | FQVPMATTEG | CLVASTNRGC | RAIGLGGGAS | SRVLADGMTR | GPVVRLPRAC |
| 610 | 620 | 630 | 640 | 650 | 660 |
| DSAEVKAWLE | TSEGFAVIKE | AFDSTSRFAR | LQKLHTSIAG | RNLYIRFQSR | SGDAMGMNMI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SKGTEKALSK | LHEYFPEMQI | LAVSGNYCTD | KKPAAINWIE | GRGKSVVCEA | VIPAKVVREV |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LKTTTEAMIE | VNINKNLVGS | AMAGSIGGYN | AHAANIVTAI | YIACGQDAAQ | NVGSSNCITL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| MEASGPTNED | LYISCTMPSI | EIGTVGGGTN | LLPQQACLQM | LGVQGACKDN | PGENARQLAR |
| 850 | 860 | 870 | 880 | ||
| IVCGTVMAGE | LSLMAALAAG | HLVKSHMIHN | RSKINLQDLQ | GACTKKTA |