Q6MZQ0
PR
Gene name |
PRR5L (PROTOR2) |
Protein name |
Proline-rich protein 5-like |
Names |
Protein observed with Rictor-2, Protor-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79899 |
EC number |
|
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 Q6MZQ0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6MZQ0-F1 | Predicted | AlphaFoldDB |
282 variants for Q6MZQ0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1462473616 CA380403335 |
2 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1590539021 CA380403330 |
2 | T>P | No |
ClinGen Ensembl |
|
|
rs775515443 CA5949245 |
3 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5949246 RCV000956932 rs9630171 |
3 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs762386719 CA5949249 |
4 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA5949248 rs777175298 |
4 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5949250 rs144807940 |
6 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs750971237 CA5949251 |
7 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs541079651 CA220704755 |
8 | I>L | No |
ClinGen gnomAD |
|
|
CA380403365 rs1400559667 |
8 | I>T | No |
ClinGen gnomAD |
|
|
rs541079651 CA380403362 |
8 | I>V | No |
ClinGen gnomAD |
|
|
CA5949252 rs762312605 |
10 | P>S | No |
ClinGen ExAC TOPMed |
|
|
CA5949254 rs141974589 |
11 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5949255 rs141974589 |
11 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141974589 CA380403378 |
11 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA380403382 rs1227303624 |
12 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5949258 rs756037225 |
13 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs150695913 CA380403400 |
14 | H>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5949260 rs749234323 |
14 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs150695913 CA5949259 |
14 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5949261 rs771993504 |
15 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5949262 rs780212600 |
20 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201146236 CA5949263 |
20 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768971599 CA5949264 |
22 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA220704757 rs906787671 |
23 | R>I | No |
ClinGen TOPMed |
|
|
rs570136912 CA220704758 |
24 | P>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
rs762202439 CA5949267 |
25 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs762202439 CA5949266 |
25 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs773808726 CA5949268 |
25 | R>H | Variant assessed as Somatic; 0.0001851 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763549439 CA380403498 |
29 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763549439 CA5949269 |
29 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1169267829 CA380403504 |
30 | P>L | No |
ClinGen gnomAD |
|
|
CA220704759 rs892498327 |
31 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA220704760 rs769605091 |
34 | D>N | No |
ClinGen gnomAD |
|
|
rs753737289 CA5949277 |
36 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA5949278 rs757260286 |
37 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs566415633 CA5949279 |
37 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5949280 rs535001252 |
39 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA380403560 rs1010966587 |
40 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1010966587 CA220704761 |
40 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs567974104 CA5949284 |
41 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs330261 CA380403565 |
41 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_043006 rs330261 CA5949282 |
41 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA220704762 rs537019006 |
42 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5949286 rs773749653 |
42 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5949285 rs537019006 |
42 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 44 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380403581 rs1458433762 |
44 | A>T | No |
ClinGen TOPMed |
|
|
CA5949288 rs376716246 |
48 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
| TCGA novel | 51 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 52 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380403639 rs1292858627 |
53 | W>* | No |
ClinGen gnomAD |
|
|
rs975658823 CA220704763 |
54 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5949291 rs767030698 |
55 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA380403674 rs1564937820 |
56 | V>A | No |
ClinGen Ensembl |
|
|
CA5949306 rs201062914 |
56 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5949307 rs774868491 |
57 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs746388419 CA5949308 |
59 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs749639682 CA5949310 |
63 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749639682 CA5949311 |
63 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 64 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380403740 rs776286628 |
66 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5949313 rs776286628 |
66 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA220704989 rs868043023 |
67 | G>D | No |
ClinGen Ensembl |
|
|
CA5949314 rs761610888 |
67 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 67 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA220704990 rs866924836 |
73 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs200741591 CA5949318 |
75 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5949319 rs752879386 |
76 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5949320 rs756397513 |
77 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs149927791 CA220704991 COSM186604 |
79 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed |
|
rs149927791 CA380403819 |
79 | E>Q | No |
ClinGen ESP TOPMed |
|
|
rs762510624 CA220704992 |
82 | R>G | No |
ClinGen Ensembl |
|
|
rs757596104 CA5949323 |
82 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA5949343 rs756117244 |
83 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200967646 CA5949342 |
83 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149085969 CA5949344 |
87 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 89 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142197197 CA5949345 |
91 | S>P | No |
ClinGen ESP ExAC TOPMed |
|
|
CA5949347 rs11555379 |
93 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA220708119 CA380404956 rs553014624 |
100 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201022114 CA220708120 |
102 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5949370 rs375274325 |
103 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs747676828 CA5949369 |
103 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375274325 CA220708121 |
103 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA380404997 rs1195452968 |
107 | F>L | No |
ClinGen TOPMed |
|
|
CA220708123 rs146938209 |
108 | F>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA380404999 rs1389833600 |
108 | F>L | No |
ClinGen gnomAD |
|
|
rs1295876752 CA380405005 |
109 | V>M | No |
ClinGen gnomAD |
|
|
rs777506466 CA5949371 |
110 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1000856731 CA220708125 |
113 | I>L | No |
ClinGen Ensembl |
|
|
CA380405049 rs1231584958 |
113 | I>M | No |
ClinGen TOPMed |
|
|
rs865905990 CA220708126 |
118 | G>S | No |
ClinGen Ensembl |
|
|
COSM293210 rs751977077 CA5949383 |
121 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs755502225 CA5949385 |
121 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755502225 CA5949384 |
121 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5949386 rs753256707 |
122 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs777459676 CA5949388 |
126 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5949389 rs748921814 |
126 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA220708660 rs922402468 |
128 | V>I | No |
ClinGen Ensembl |
|
|
CA5949390 rs757022808 |
130 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA220708662 rs933867986 |
135 | E>D | No |
ClinGen Ensembl |
|
|
rs62621409 CA5949391 |
139 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs911006046 CA220708663 |
139 | T>I | No |
ClinGen TOPMed |
|
|
CA5949392 rs745718624 |
140 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 142 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5949393 rs771907831 |
146 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380405509 rs771907831 |
146 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775233155 CA5949394 |
147 | V>A | No |
ClinGen ExAC |
|
|
CA380133999 rs1245758981 |
149 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 150 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142114791 CA5949416 |
150 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772297667 CA5949419 |
154 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 154 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5949420 rs775976935 COSM311208 |
155 | R>H | lung Variant assessed as Somatic; 4.677e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1267314168 CA380134040 |
156 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 159 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1339949275 CA380134073 |
161 | G>D | No |
ClinGen TOPMed |
|
|
CA5949423 rs754402154 |
163 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761350393 CA5949425 |
163 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs761350393 CA5949424 |
163 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA380134095 rs1448516251 |
165 | L>V | No |
ClinGen gnomAD |
|
|
CA380134126 rs1430225611 |
170 | V>M | No |
ClinGen TOPMed |
|
|
CA380134132 rs1458319237 |
171 | K>E | No |
ClinGen gnomAD |
|
|
rs1388291717 CA380134140 |
172 | L>V | No |
ClinGen gnomAD |
|
|
CA5949430 rs754771099 |
173 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs781047168 CA5949431 |
174 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA380134161 rs1443412237 |
176 | L>V | No |
ClinGen TOPMed |
|
|
CA5949433 rs748104815 |
177 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs770954387 CA5949434 |
180 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA220558349 rs149619272 |
182 | K>E | No |
ClinGen ESP gnomAD |
|
|
rs1264274251 CA380134208 |
184 | P>S | No |
ClinGen gnomAD |
|
|
CA380134217 rs1209690054 |
185 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs200287266 CA5949437 |
187 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1008375493 CA220558359 |
189 | Q>* | No |
ClinGen Ensembl |
|
|
CA380134241 rs1355665419 |
189 | Q>H | No |
ClinGen TOPMed |
|
| TCGA novel | 191 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA220558369 rs866866496 |
191 | L>S | No |
ClinGen Ensembl |
|
|
rs1415303003 CA380134278 |
195 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1415303003 CA380134276 |
195 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1433898504 CA380134301 |
196 | S>T | No |
ClinGen Ensembl |
|
|
CA5949461 rs377337551 |
198 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1362359338 CA380134318 |
199 | E>K | No |
ClinGen TOPMed |
|
|
CA5949462 rs144376417 |
200 | P>S | No |
ClinGen ESP ExAC |
|
|
rs770399324 CA5949463 |
201 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5949464 rs557355912 |
202 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 203 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1477674764 CA380134354 |
204 | S>R | No |
ClinGen TOPMed |
|
|
rs1564953327 CA380134361 |
205 | E>D | No |
ClinGen Ensembl |
|
|
CA5949465 rs202215839 |
206 | S>G | No |
ClinGen 1000Genomes ExAC |
|
|
rs1209022913 CA380134367 |
206 | S>N | No |
ClinGen gnomAD |
|
|
rs773951211 CA5949467 |
210 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA220560635 rs936309950 |
211 | E>K | No |
ClinGen Ensembl |
|
|
rs767273939 CA5949469 |
213 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752549636 CA5949470 |
214 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA380134499 rs1483282410 |
221 | F>L | No |
ClinGen gnomAD |
|
|
CA5949472 rs141937897 |
223 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780028411 CA5949476 |
226 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA5949474 rs563340054 |
226 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780028411 CA5949475 |
226 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA380134594 rs1430555922 |
227 | D>H | No |
ClinGen gnomAD |
|
|
rs755302249 CA5949477 |
228 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM926717 rs139615295 CA5949478 |
228 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA5949479 rs755277682 |
230 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749786823 CA5949482 |
233 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs773716071 CA5949481 |
233 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA220560737 rs111844956 |
234 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5949483 rs111844956 |
234 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380134695 rs1205182362 |
235 | Y>D | No |
ClinGen gnomAD |
|
|
rs145405477 CA5949485 |
236 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5949503 rs749777257 |
240 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5949502 rs778035625 |
240 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380137897 rs1335056872 |
241 | H>Y | No |
ClinGen TOPMed |
|
|
rs150643262 CA5949507 |
245 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM926718 rs150643262 CA5949506 |
245 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs186016016 CA5949505 |
245 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200786830 CA5949508 |
248 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 250 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380138080 rs1161780058 |
254 | A>T | No |
ClinGen gnomAD |
|
|
CA5949509 rs760277113 |
256 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs768466988 CA5949510 |
258 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs768466988 CA380138128 |
258 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA220568902 rs557394432 |
259 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5949514 rs750399408 |
259 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs557394432 CA5949515 |
259 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5949516 rs374401846 |
260 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA220568927 rs768079990 |
261 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs898069525 CA220568939 |
262 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5949518 rs367619940 |
262 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA220568945 rs565415763 |
265 | N>D | No |
ClinGen Ensembl |
|
|
CA380138177 rs1198862909 |
266 | E>* | No |
ClinGen gnomAD |
|
|
CA380138181 rs1297648136 |
266 | E>G | No |
ClinGen TOPMed |
|
|
rs1239234960 CA598865061 |
266 | E>WPQSAGH* | No |
ClinGen gnomAD |
|
|
CA380138190 rs1188281850 |
267 | M>I | No |
ClinGen gnomAD |
|
|
rs1189984519 CA380138201 |
269 | L>* | No |
ClinGen gnomAD |
|
|
CA380138214 rs1590618716 |
271 | P>S | No |
ClinGen Ensembl |
|
|
CA5949520 rs754225814 |
272 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs995113587 CA220568960 |
273 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 278 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5949521 rs757625121 |
279 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA380138274 rs1157196908 |
280 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 282 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1415842177 CA380138303 |
284 | C>S | No |
ClinGen gnomAD |
|
|
CA380138314 rs1433861538 |
286 | S>G | No |
ClinGen gnomAD |
|
|
CA5949523 rs746400317 |
287 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771531021 CA5949524 |
288 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5949525 rs779580374 |
289 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590618787 CA380138337 |
290 | H>P | No |
ClinGen Ensembl |
|
|
CA380138347 COSM174307 rs1237970347 |
291 | T>M | Variant assessed as Somatic; 4.735e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA380138350 rs1347349676 |
292 | V>M | No |
ClinGen gnomAD |
|
|
rs1201289165 CA380138359 |
293 | A>V | No |
ClinGen gnomAD |
|
|
rs761190508 CA220569030 |
294 | N>S | No |
ClinGen TOPMed |
|
|
CA5949528 rs776348774 |
295 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766733109 CA5949529 |
296 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA5949530 rs572962420 |
297 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5949531 rs147844376 |
297 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA380138382 rs147844376 |
297 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767678951 CA220569065 |
298 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1020772621 CA220569059 |
298 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5949534 rs775488850 |
299 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs754106759 CA5949537 |
304 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5949538 rs754106759 |
304 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA220569123 rs920844582 |
307 | M>T | No |
ClinGen Ensembl |
|
|
CA220569126 rs929586129 |
309 | H>R | No |
ClinGen Ensembl |
|
|
CA5949539 rs765624817 |
310 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs145025421 CA5949541 |
311 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780657900 CA380138478 |
313 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs564232729 CA5949543 |
313 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5949545 rs780657900 |
313 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5949544 rs564232729 |
313 | G>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5949546 rs375141919 |
314 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380138480 rs375141919 |
314 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5949547 rs769676674 |
315 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs149035838 CA5949548 |
316 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1415885128 CA380138510 |
318 | S>N | No |
ClinGen TOPMed |
|
|
rs370148804 CA220569226 |
322 | C>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5949549 rs370148804 |
322 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA380138551 rs1246665161 |
324 | L>F | No |
ClinGen gnomAD |
|
|
CA5949552 rs760616313 |
328 | S>N | No |
ClinGen ExAC TOPMed |
|
|
CA380138579 rs1193403862 |
328 | S>R | No |
ClinGen gnomAD |
|
|
CA380138577 rs760616313 |
328 | S>T | No |
ClinGen ExAC TOPMed |
|
|
CA380138586 rs143061946 |
329 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380138611 rs1452198105 |
330 | P>L | No |
ClinGen gnomAD |
|
|
CA5949554 VAR_043007 rs11033639 |
330 | P>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA380138615 rs1221699198 |
331 | P>A | No |
ClinGen TOPMed |
|
|
rs182532599 CA5949555 |
331 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs182532599 CA5949556 |
331 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1296441611 CA380138632 |
332 | P>L | No |
ClinGen gnomAD |
|
|
CA380138628 rs1461404296 |
332 | P>S | No |
ClinGen gnomAD |
|
|
rs1461404296 CA380138624 |
332 | P>T | No |
ClinGen gnomAD |
|
|
rs374417656 COSM926719 CA5949559 |
334 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs141033911 CA5949558 |
334 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1368987001 CA380138668 |
335 | Q>R | No |
ClinGen gnomAD |
|
|
rs1322698387 CA380138696 |
337 | S>Y | No |
ClinGen gnomAD |
|
|
CA380138707 rs1289196699 |
338 | S>N | No |
ClinGen TOPMed |
|
|
CA380138721 rs1298382405 |
339 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA380138742 rs1307041258 |
340 | P>L | No |
ClinGen gnomAD |
|
|
CA380138747 rs1350233029 |
341 | N>S | No |
ClinGen gnomAD |
|
|
CA5949562 rs150254725 |
342 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142291765 CA5949564 COSM1659277 |
344 | D>N | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA380138763 rs142291765 |
344 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5949568 rs770775646 |
346 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA220569313 rs749021854 |
346 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5949567 rs749021854 |
346 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380138788 CA380138787 rs774109936 |
347 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5949570 rs745852254 |
348 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5949571 rs768591933 |
349 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs762010728 CA5949573 |
350 | E>A | No |
ClinGen ExAC |
|
|
rs548423017 CA5949572 |
350 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA220569352 rs1056425134 |
352 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs773428418 CA5949575 |
353 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1321536457 CA380138851 |
354 | R>G | No |
ClinGen gnomAD |
|
|
CA220569359 rs577292135 |
355 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs145896764 CA5949578 |
357 | Q>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5949579 rs200753293 |
359 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA5949580 rs377764430 |
360 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377764430 CA5949581 |
360 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380138952 rs1269117376 |
362 | L>P | No |
ClinGen TOPMed |
|
|
CA5949584 rs755686983 |
363 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1485349177 CA380138996 |
365 | A>V | No |
ClinGen gnomAD |
|
|
rs777512646 CA5949585 |
368 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 369 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q6MZQ0
No regional properties for Q6MZQ0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q6MZQ0 | |||
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| TORC2 complex | A protein complex that contains at least TOR (target of rapamycin) and Rictor (rapamycin-insensitive companion of TOR), or orthologs of, in complex with other signaling components. Mediates the phosphorylation and activation of PKB (also called AKT). In Saccharomyces, the complex contains Avo1p, Avo2p, Tsc11p, Lst8p, Bit61p, Slm1p, Slm2p, and Tor2p. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to oxidative 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 oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
| negative regulation of protein phosphorylation | Any process that stops, prevents or reduces the rate of addition of phosphate groups to amino acids within a protein. |
| negative regulation of signal transduction | Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction. |
| phosphatidylinositol 3-kinase signaling | A series of reactions within the signal-receiving cell, mediated by the intracellular phosphatidylinositol 3-kinase (PI3K). Many cell surface receptor linked signaling pathways signal through PI3K to regulate numerous cellular functions. |
| positive regulation of intracellular protein transport | Any process that activates or increases the frequency, rate or extent of the directed movement of proteins within cells. |
| positive regulation of mRNA catabolic process | Any process that increases the rate, frequency, or extent of a mRNA catabolic process, the chemical reactions and pathways resulting in the breakdown of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. |
| positive regulation of phosphatidylinositol 3-kinase signaling | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade. |
| positive regulation of protein phosphorylation | Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of fibroblast migration | Any process that modulates the rate, frequency or extent of fibroblast cell migration. Fibroblast cell migration is accomplished by extension and retraction of a pseudopodium. |
| TORC2 signaling | A series of intracellular molecular signals mediated by TORC2; TOR (rapamycin-insensitive companion of TOR) in complex with at least Rictor (regulatory-associated protein of TOR), or orthologs of, and other signaling components. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTRGFAPILP | VEFHKMGSFR | RPRPRFMSSP | VLSDLPRFQA | ARQALQLSSS | SAWNSVQTAV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| INVFKGGGLQ | SNELYALNEN | IRRLLKSELG | SFITDYFQNQ | LLAKGLFFVE | EKIKLCEGEN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RIEVLAEVWD | HFFTETLPTL | QAIFYPVQGQ | ELTIRQISLL | GFRDLVLLKV | KLGDLLLLAQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SKLPSSIVQM | LLILQSVHEP | TGPSESYLQL | EELVKQVVSP | FLGISGDRSF | SGPTYTLARR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HSRVRPKVTV | LNYASPITAV | SRPLNEMVLT | PLTEQEGEAY | LEKCGSVRRH | TVANAHSDIQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LLAMATMMHS | GLGEEASSEN | KCLLLPPSFP | PPHRQCSSEP | NITDNPDGLE | EGARGSQEGS |
| ELNCASLS |