Q6IN85
Gene name |
PPP4R3A |
Protein name |
Serine/threonine-protein phosphatase 4 regulatory subunit 3A |
Names |
SMEK homolog 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55671 |
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
2 structures for Q6IN85
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6R8I | X-ray | 152 A | A | 1-117 | PDB |
| AF-Q6IN85-F1 | Predicted | AlphaFoldDB |
366 variants for Q6IN85
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs765108460 CA7311060 |
5 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA390634604 rs1313747322 |
5 | R>W | No |
ClinGen gnomAD |
|
|
rs950227605 CA265558414 |
8 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 9 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390634550 rs1350272476 |
9 | K>R | No |
ClinGen gnomAD |
|
|
rs774324266 CA7311055 |
12 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7311053 rs763429914 |
13 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 21 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770515342 CA7311048 |
28 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1006713516 CA265558364 |
30 | G>S | No |
ClinGen TOPMed |
|
|
CA390634219 rs1308779029 |
35 | L>Q | No |
ClinGen gnomAD |
|
|
CA390634215 rs1308779029 |
35 | L>R | No |
ClinGen gnomAD |
|
|
CA390634178 rs1331261315 |
38 | M>L | No |
ClinGen TOPMed |
|
|
CA265558331 rs200747494 |
39 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200747494 CA390634156 |
39 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7311044 rs200747494 |
39 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 40 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1402932705 CA390634114 |
43 | R>K | No |
ClinGen gnomAD |
|
|
CA390634099 rs1308910988 |
44 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA390634073 rs1169758979 |
46 | S>G | No |
ClinGen gnomAD |
|
|
CA390634066 rs1434262934 |
46 | S>N | No |
ClinGen gnomAD |
|
|
CA390634055 rs1197882486 |
47 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 52 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201169979 CA390628953 |
52 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1363552449 CA390628936 |
54 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7311006 rs761101764 |
60 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1223030716 CA390628708 |
68 | T>A | No |
ClinGen gnomAD |
|
|
rs908206251 CA265536150 |
77 | N>S | No |
ClinGen TOPMed |
|
|
CA265536132 rs759120978 |
89 | G>V | No |
ClinGen Ensembl |
|
|
CA390628221 rs1324778079 |
95 | E>A | No |
ClinGen gnomAD |
|
|
CA7310962 rs751192835 |
107 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1049300288 CA265533744 |
109 | I>M | No |
ClinGen TOPMed |
|
|
rs1177105600 CA390626572 |
109 | I>V | No |
ClinGen gnomAD |
|
|
rs1198339093 CA390626472 |
114 | V>M | No |
ClinGen gnomAD |
|
|
rs1455405600 CA390626427 |
116 | E>K | No |
ClinGen TOPMed |
|
|
rs751288688 CA265533740 |
116 | E>V | No |
ClinGen Ensembl |
|
|
CA390626412 rs1470388848 |
117 | S>Y | No |
ClinGen gnomAD |
|
|
rs752287387 CA7310959 |
121 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA7310958 rs764698174 |
125 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs759497847 CA7310957 |
125 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 125 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1321945223 CA390626247 |
127 | S>L | No |
ClinGen gnomAD |
|
|
rs1321945223 CA390626249 |
127 | S>W | No |
ClinGen gnomAD |
|
| TCGA novel | 128 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390626222 rs1224740650 |
129 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 134 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs78124650 CA265533681 |
135 | C>S | No |
ClinGen Ensembl |
|
| TCGA novel | 137 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7310953 rs768951187 |
139 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs768951187 CA7310952 |
139 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs780157659 CA7310950 |
146 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746372581 CA7310948 |
147 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7310946 rs757637900 |
154 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA390625879 rs1409851996 |
156 | R>H | No |
ClinGen gnomAD |
|
|
rs1171077154 CA390625862 |
157 | R>C | No |
ClinGen gnomAD |
|
|
rs751996385 CA7310945 |
157 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA390625812 rs1567154553 |
159 | K>R | No |
ClinGen Ensembl |
|
|
rs1460024126 CA390625688 |
165 | E>D | No |
ClinGen gnomAD |
|
|
CA390625627 rs1319137050 |
167 | E>D | No |
ClinGen gnomAD |
|
|
CA390625645 rs1243118522 |
167 | E>K | Variant assessed as Somatic; 0.0001848 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7310942 rs752344182 |
167 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390625619 rs935835317 |
168 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA390625617 rs1180395101 |
168 | G>D | No |
ClinGen TOPMed |
|
|
CA265533573 rs935835317 |
168 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1282534136 CA390625605 |
169 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
CA390625591 rs1282534136 |
169 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA7310941 rs764794753 |
170 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1352440378 CA390625538 |
171 | K>R | No |
ClinGen gnomAD |
|
|
rs760418868 CA7310937 |
178 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7310938 rs200456384 |
178 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7310935 rs771809496 |
179 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA390625357 rs1158064030 |
179 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 180 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775640436 CA390625280 |
183 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769845796 CA7310932 |
183 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7310933 rs775640436 |
183 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745959269 CA7310931 |
185 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs781746912 CA7310930 |
186 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 187 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770307956 CA7310928 |
189 | L>QV* | No |
ClinGen ExAC |
|
|
CA265533479 rs376796437 |
192 | L>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA265533464 rs373332248 |
193 | Y>C | No |
ClinGen ESP TOPMed |
|
|
rs771597992 CA7310927 |
193 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 194 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 194 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775499610 CA265533458 |
195 | I>L | No |
ClinGen Ensembl |
|
|
CA390625107 rs1215606759 |
195 | I>T | No |
ClinGen gnomAD |
|
|
rs775499610 CA390625111 |
195 | I>V | No |
ClinGen Ensembl |
|
|
rs1349110500 CA390625076 |
197 | K>R | No |
ClinGen TOPMed |
|
|
rs1228391484 CA390625048 |
199 | I>S | No |
ClinGen TOPMed |
|
|
CA390625022 rs1292115993 |
201 | L>I | No |
ClinGen gnomAD |
|
|
CA7310925 rs778179619 |
204 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs758752190 CA7310924 |
206 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA390624919 rs1287028931 |
209 | E>K | No |
ClinGen gnomAD |
|
|
rs1323035299 CA390624789 |
218 | M>L | No |
ClinGen gnomAD |
|
|
rs1323035299 CA390624788 |
218 | M>V | No |
ClinGen gnomAD |
|
|
CA390624755 rs756021186 |
219 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7310919 rs765911270 |
219 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA265533392 rs886135544 |
220 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs750383941 CA7310917 |
220 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7310916 rs767339965 |
221 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7310913 rs533591917 |
226 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1224284352 CA390624615 |
227 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs759650627 CA7310912 |
227 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA7310911 rs776823120 |
231 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs771187036 CA7310910 |
232 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390624534 rs1420697845 |
233 | P>A | No |
ClinGen TOPMed |
|
|
CA390624516 rs1204669997 |
234 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs374959471 CA265533335 |
238 | E>V | No |
ClinGen ESP |
|
|
rs78875778 CA265533334 |
241 | T>K | No |
ClinGen Ensembl |
|
| TCGA novel | 243 | T>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390624403 rs1293395184 |
244 | A>S | No |
ClinGen gnomAD |
|
|
CA7310908 rs773664066 |
245 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 248 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA265533317 rs879003474 |
252 | I>M | No |
ClinGen Ensembl |
|
| TCGA novel | 260 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 262 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1352814952 CA390623799 |
273 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7310904 rs754591155 |
273 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7310903 rs748987963 |
276 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1470565172 CA390623734 |
277 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 278 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7310902 rs779523621 |
279 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312920705 CA390623493 |
288 | T>R | No |
ClinGen TOPMed |
|
|
rs867665153 CA390623470 |
290 | H>N | No |
ClinGen gnomAD |
|
|
rs867665153 CA265533275 |
290 | H>Y | No |
ClinGen gnomAD |
|
|
CA7310900 rs750307811 |
292 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA7310898 rs757028562 |
293 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA390621697 rs1325330384 |
309 | K>E | No |
ClinGen gnomAD |
|
|
rs1290942967 CA390621646 |
312 | T>I | No |
ClinGen gnomAD |
|
|
CA7310881 rs781144838 |
317 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA390621549 rs1157643037 |
319 | T>I | No |
ClinGen gnomAD |
|
|
CA390621501 rs1386506625 |
323 | T>A | No |
ClinGen gnomAD |
|
|
CA7310879 rs751566194 |
324 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs975008935 CA265530168 |
326 | E>D | No |
ClinGen TOPMed |
|
|
CA390621433 rs1441704692 |
328 | R>G | No |
ClinGen gnomAD |
|
|
CA7310859 rs780547287 |
332 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA390621002 rs1201806768 |
334 | F>L | No |
ClinGen TOPMed |
|
|
rs746918216 CA7310857 |
338 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs777862008 CA7310856 |
339 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs758213999 CA7310855 |
340 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA390620849 rs1463941060 |
344 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1171310106 CA390620846 |
345 | L>Q | No |
ClinGen TOPMed |
|
|
rs1373545401 CA390620822 |
348 | Q>H | No |
ClinGen TOPMed |
|
|
CA390620793 rs1431605008 |
352 | A>G | No |
ClinGen TOPMed |
|
|
rs756265570 CA7310852 |
354 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7310851 rs750713194 |
357 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1198398439 CA390620751 |
358 | S>L | No |
ClinGen gnomAD |
|
|
CA390620741 rs1405335769 |
360 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 362 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376854978 CA7310847 |
362 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA390620709 rs1294860116 |
364 | P>L | No |
ClinGen TOPMed |
|
|
CA7310846 rs763263594 |
368 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 371 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758881648 CA7310822 |
372 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs983822366 CA265529352 |
372 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs753263157 CA7310821 |
373 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA390620644 rs1337336412 |
373 | D>N | No |
ClinGen gnomAD |
|
|
rs765517627 CA390620631 CA7310820 |
374 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs140684085 CA390620608 |
378 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140684085 CA7310819 |
378 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390620601 rs1595062053 |
379 | S>N | No |
ClinGen Ensembl |
|
|
CA7310818 rs776093984 |
382 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766082516 CA7310817 |
384 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1157047022 CA390620564 |
384 | I>T | No |
ClinGen gnomAD |
|
|
rs754204744 CA265529289 |
384 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 387 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390620497 rs1185972729 |
389 | V>A | No |
ClinGen gnomAD |
|
|
CA265529273 rs959473713 |
390 | E>D | No |
ClinGen gnomAD |
|
|
CA390620420 rs1217042715 |
395 | M>T | No |
ClinGen gnomAD |
|
|
rs760440115 CA7310816 |
395 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 398 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150940624 CA7310815 |
398 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748091651 CA7310813 |
401 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7310812 rs774347968 |
402 | Q>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 406 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7310811 rs372384377 |
407 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA390620150 rs1567151518 |
408 | D>N | No |
ClinGen Ensembl |
|
|
CA390620136 rs1376958785 |
409 | D>N | No |
ClinGen gnomAD |
|
|
rs749129628 CA7310810 |
418 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA265529245 rs766599822 |
419 | I>M | No |
ClinGen Ensembl |
|
|
rs1198163763 CA390619817 |
421 | S>N | No |
ClinGen TOPMed |
|
|
rs952737840 CA265526788 |
423 | D>G | No |
ClinGen TOPMed |
|
|
CA7310777 rs780559000 |
423 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7310776 rs143493713 |
424 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767298918 CA7310774 |
425 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1025873617 CA390618709 |
427 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs912288691 CA265526752 |
428 | N>S | No |
ClinGen gnomAD |
|
|
rs1453477370 CA390618661 |
430 | I>F | No |
ClinGen TOPMed |
|
|
rs751049083 CA7310772 |
433 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1453949515 CA390618495 |
438 | T>K | No |
ClinGen gnomAD |
|
|
rs763562211 CA7310771 |
440 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201007128 CA265526727 |
442 | L>F | No |
ClinGen 1000Genomes |
|
|
rs762935380 CA7310770 |
448 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA265526722 rs200834500 |
450 | G>R | No |
ClinGen Ensembl |
|
|
CA7310767 rs759343277 |
453 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1292921882 CA390618254 |
456 | V>I | No |
ClinGen TOPMed |
|
|
rs1595059474 CA390618237 |
457 | D>A | No |
ClinGen Ensembl |
|
|
CA390618171 rs1177941808 |
461 | M>I | No |
ClinGen gnomAD |
|
|
CA7310765 rs61752313 |
466 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390618064 rs1465687620 |
467 | K>R | No |
ClinGen Ensembl |
|
|
CA390618009 rs1172954665 |
471 | T>S | No |
ClinGen Ensembl |
|
|
rs762031947 CA7310746 |
475 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA390617919 rs1398530708 |
476 | F>Y | No |
ClinGen gnomAD |
|
|
CA7310743 rs749378173 |
479 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA390617847 rs770385675 |
480 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs776110952 CA7310742 |
480 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1376343335 CA390617773 |
484 | V>I | No |
ClinGen TOPMed |
|
|
CA7310740 rs746399518 |
486 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA390617614 rs1476702233 |
494 | T>A | No |
ClinGen gnomAD |
|
|
rs1199795807 CA390617602 |
495 | E>K | No |
ClinGen gnomAD |
|
|
CA7310738 rs757566591 |
500 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA7310720 rs771311249 |
503 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1317806903 CA390617418 |
504 | Q>H | No |
ClinGen TOPMed |
|
|
rs533898148 CA265524695 |
508 | L>V | No |
ClinGen 1000Genomes |
|
|
rs1219458748 CA390617377 |
511 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA390617272 rs1450307807 |
519 | C>F | No |
ClinGen TOPMed |
|
|
CA7310719 rs747379927 |
521 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA7310717 rs757944827 |
528 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA390617077 rs1567148879 |
531 | I>V | No |
ClinGen Ensembl |
|
|
rs778331899 CA7310715 |
538 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 538 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1595056842 CA390616876 |
540 | V>A | No |
ClinGen Ensembl |
|
|
rs1399292270 CA390616867 |
541 | L>V | No |
ClinGen gnomAD |
|
|
rs766278446 CA7310712 |
544 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755909017 CA7310711 |
545 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 546 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 560 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761024848 CA7310681 |
563 | I>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 568 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390615331 rs1400363234 |
572 | R>C | No |
ClinGen gnomAD |
|
|
CA7310676 rs768259398 |
579 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs745788259 CA7310672 |
585 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7310671 rs781247545 |
586 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390615120 rs1171916182 |
586 | A>V | No |
ClinGen gnomAD |
|
|
rs757094294 CA7310670 |
589 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7310669 rs536770708 |
590 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390615093 rs1460657977 |
590 | N>S | No |
ClinGen TOPMed |
|
|
rs777739532 CA7310668 |
591 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1485276355 CA390615080 |
592 | S>P | No |
ClinGen gnomAD |
|
|
rs1485276355 CA390615077 |
592 | S>T | No |
ClinGen gnomAD |
|
|
rs1246714322 CA390615061 |
593 | R>H | No |
ClinGen gnomAD |
|
|
rs1398570794 CA390633549 |
613 | I>V | No |
ClinGen gnomAD |
|
|
CA390633514 rs1595048268 |
618 | A>S | No |
ClinGen Ensembl |
|
|
CA390633500 rs1298018688 |
620 | V>I | No |
ClinGen gnomAD |
|
|
rs756118736 CA7310643 |
622 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs757704936 CA7310640 |
630 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs372908590 CA7310639 |
632 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 633 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763432828 CA7310637 |
634 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 640 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390633306 rs1488985228 |
641 | K>N | No |
ClinGen TOPMed |
|
|
rs774983570 CA390633303 |
642 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA7310636 rs774983570 |
642 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7310635 rs764979244 |
644 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA390633273 rs1483443992 |
644 | F>S | No |
ClinGen gnomAD |
|
|
CA7310633 rs776229776 |
651 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1263168352 CA390633171 |
652 | D>N | No |
ClinGen Ensembl |
|
|
rs1286753004 CA390633154 |
653 | N>D | No |
ClinGen gnomAD |
|
|
CA7310632 rs770575828 |
653 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1375412717 CA390633140 |
654 | P>S | No |
ClinGen gnomAD |
|
|
CA7310631 rs746871715 |
656 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA390633098 rs1381733049 |
657 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs370036690 CA7310614 |
660 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1354471306 CA390632536 |
662 | I>L | No |
ClinGen gnomAD |
|
|
rs918863379 CA265562921 |
662 | I>M | No |
ClinGen gnomAD |
|
|
rs765980139 CA7310613 |
665 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA390632477 rs1422204562 |
666 | H>R | No |
ClinGen TOPMed |
|
|
CA390632465 rs1382095599 |
667 | R>K | No |
ClinGen gnomAD |
|
|
CA265562912 rs935361912 |
669 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1370102345 CA390632393 |
671 | D>V | No |
ClinGen gnomAD |
|
|
rs1567144474 CA390632143 |
681 | M>I | No |
ClinGen Ensembl |
|
|
rs1210498171 CA390631925 |
690 | M>V | No |
ClinGen gnomAD |
|
|
rs774139925 CA7310607 |
691 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1297849503 CA390631819 |
695 | A>G | No |
ClinGen TOPMed |
|
|
rs768342743 CA7310606 |
695 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390631767 rs1318983606 |
698 | S>P | No |
ClinGen gnomAD |
|
|
rs180892588 CA7310604 |
702 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7310603 rs770975042 |
705 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567144432 CA390631521 |
709 | I>L | No |
ClinGen Ensembl |
|
|
rs970991898 CA265562809 |
710 | M>R | No |
ClinGen Ensembl |
|
|
rs747131542 CA7310600 |
711 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1567144421 CA390631416 |
713 | I>M | No |
ClinGen Ensembl |
|
|
CA7310598 rs758888383 |
716 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs780589967 CA7310575 |
722 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1271878301 CA390631101 |
723 | K>N | No |
ClinGen gnomAD |
|
|
CA390631083 rs1349421784 |
725 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1277497308 CA390631044 |
727 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1232926138 CA390631017 |
728 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 728 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755772710 CA7310574 |
730 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 731 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1335114165 CA390630899 |
734 | T>R | No |
ClinGen gnomAD |
|
| TCGA novel | 735 | N>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7310570 rs751492645 |
736 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs201851813 CA265562287 |
737 | S>C | No |
ClinGen Ensembl |
|
|
CA7310569 rs763976950 |
738 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7310568 rs762908427 |
739 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390630825 rs1173163762 |
739 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA7310567 rs757937284 |
741 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA265562264 rs757937284 |
741 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7310566 rs765029180 |
742 | P>R | No |
ClinGen ExAC |
|
|
rs889764726 CA265562240 |
744 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1486480970 CA390630683 |
750 | S>G | No |
ClinGen gnomAD |
|
|
rs1384327040 CA390630677 |
750 | S>T | No |
ClinGen TOPMed |
|
|
rs141774507 CA7310564 |
752 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7310562 rs202092029 |
753 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1221939886 CA390630621 |
754 | T>I | No |
ClinGen gnomAD |
|
|
CA7310561 rs774525152 |
755 | N>H | No |
ClinGen ExAC |
|
|
rs1349709630 CA390630613 |
755 | N>T | No |
ClinGen gnomAD |
|
|
rs749829204 CA7310559 |
756 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs756614479 CA7310557 |
757 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1289007710 CA390630562 |
759 | Q>R | No |
ClinGen TOPMed |
|
|
CA7310556 rs535877362 |
760 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7310555 rs780757822 |
760 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs149860251 CA7310554 |
762 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1037612500 CA265562162 |
763 | T>A | No |
ClinGen gnomAD |
|
|
rs750993627 CA7310553 |
763 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA390630511 rs763617268 |
764 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390630506 rs1415242026 |
764 | N>S | No |
ClinGen gnomAD |
|
|
CA7310552 rs763617268 |
764 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752631714 CA390630497 |
765 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7310549 rs371876416 |
765 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390630474 rs759382262 |
767 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759382262 CA7310548 |
767 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7310547 rs773458405 |
769 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332341494 CA390630434 |
770 | G>A | No |
ClinGen gnomAD |
|
|
CA265562092 rs918181214 |
772 | P>A | No |
ClinGen gnomAD |
|
|
rs774242522 CA7310544 |
773 | G>R | No |
ClinGen ExAC |
|
| TCGA novel | 776 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7310543 rs768864624 |
776 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1378090946 CA390630340 |
778 | P>L | No |
ClinGen TOPMed |
|
|
CA7310542 rs201142813 |
779 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390630320 rs776197370 |
780 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7310541 rs776197370 |
780 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs139686419 CA7310535 |
784 | V>I | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs139686419 CA265562051 |
784 | V>L | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs756809008 CA7310533 |
785 | P>S | No |
ClinGen ExAC |
|
|
rs746687953 CA7310532 |
787 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs573892996 CA7310530 |
791 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7310528 rs778869091 |
792 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1272249421 CA390630158 |
794 | I>T | No |
ClinGen gnomAD |
|
|
CA7310527 rs754768561 |
794 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs753530016 CA7310526 |
796 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA390630137 rs1309464900 |
796 | T>R | No |
ClinGen TOPMed |
|
|
rs189558489 CA7310504 |
801 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7310505 rs189558489 |
801 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1394428127 CA390629154 |
809 | D>E | No |
ClinGen gnomAD |
|
|
rs200723204 CA7310501 |
811 | E>D | No |
ClinGen ESP TOPMed |
|
|
CA390629128 rs1420661348 |
813 | D>G | No |
ClinGen gnomAD |
|
|
CA7310500 rs150626793 |
813 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753823528 CA7310499 |
814 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1176401615 CA390629122 |
814 | D>H | No |
ClinGen gnomAD |
|
|
CA7310494 rs779713377 |
816 | D>A | No |
ClinGen ExAC |
|
|
CA390629096 rs1259842446 |
817 | E>V | No |
ClinGen gnomAD |
|
|
rs989940377 CA390629093 |
818 | D>N | No |
ClinGen gnomAD |
|
|
rs989940377 CA265559430 |
818 | D>Y | No |
ClinGen gnomAD |
|
|
rs924502502 CA265559407 |
820 | E>D | No |
ClinGen Ensembl |
|
|
rs955968587 CA265559409 |
820 | E>V | No |
ClinGen Ensembl |
|
|
rs764452668 CA7310491 |
822 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1028208566 CA265559406 |
823 | L>S | No |
ClinGen gnomAD |
|
|
CA265559398 rs867002947 |
824 | P>L | No |
ClinGen Ensembl |
|
|
rs964682464 CA265559363 |
833 | S>* | No |
ClinGen TOPMed |
|
|
rs771183788 CA7310485 |
833 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs761146743 CA7310484 |
834 | S>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199784699 CA7310482 |
834 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with Q6IN85
1 regional properties for Q6IN85
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Serine/threonine-protein phosphatase 4 regulatory subunit 3-like, central domain | 166 - 357 | IPR006887 |
Functions
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. |
| microtubule organizing center | An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| protein phosphatase 4 complex | A protein serine/threonine phosphatase complex formed by the catalytic subunit of protein phosphatase 4 plus one or more regulatory subunits. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein phosphatase activator activity | Binds to and increases the activity of a protein phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a protein substrate molecule. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to DNA damage stimulus | 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 stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
| protein dephosphorylation | The process of removing one or more phosphoric residues from a protein. |
2 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTDTRRRVKV | YTLNEDRQWD | DRGTGHVSSG | YVERLKGMSL | LVRAESDGSL | LLESKINPNT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AYQKQQDTLI | VWSEAENYDL | ALSFQEKAGC | DEIWEKICQV | QGKDPSVDIT | QDLVDESEEE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RFDDMSSPGL | ELPSCELSRL | EEIAELVASS | LPSPLRREKL | ALALENEGYI | KKLLELFHVC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EDLENIEGLH | HLYEIIKGIF | LLNRTALFEV | MFSEECIMDV | IGCLEYDPAL | SQPRKHREFL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TKTAKFKEVI | PISDPELKQK | IHQTYRVQYI | QDMVLPTPSV | FEENMLSTLH | SFIFFNKVEI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VGMLQEDEKF | LTDLFAQLTD | EATDEEKRQE | LVNFLKEFCA | FSQTLQPQNR | DAFFKTLSNM |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GILPALEVIL | GMDDTQVRSA | ATDIFSYLVE | YNPSMVREFV | MQEAQQNDDV | SKKLTEQKIT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SKDILLINLI | IEHMICDTDP | ELGGAVQLMG | LLRTLVDPEN | MLATANKTEK | TEFLGFFYKH |
| 490 | 500 | 510 | 520 | 530 | 540 |
| CMHVLTAPLL | ANTTEDKPSK | DDFQTAQLLA | LVLELLTFCV | EHHTYHIKNY | IINKDILRRV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LVLMASKHAF | LALCALRFKR | KIIGLKDEFY | NRYIMKSFLF | EPVVKAFLNN | GSRYNLMNSA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| IIEMFEFIRV | EDIKSLTAHV | IENYWKALED | VDYVQTFKGL | KLRFEQQRER | QDNPKLDSMR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SILRNHRYRR | DARTLEDEEE | MWFNTDEDDM | EDGEAVVSPS | DKTKNDDDIM | DPISKFMERK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KLKESEEKEV | LLKTNLSGRQ | SPSFKLSLSS | GTKTNLTSQS | STTNLPGSPG | SPGSPGSPGS |
| 790 | 800 | 810 | 820 | 830 | |
| PGSVPKNTSQ | TAAITTKGGL | VGLVDYPDDD | EDDDEDEDKE | DTLPLSKKAK | FDS |