Q9BZL6
Gene name |
PRKD2 (PKD2, HSPC187) |
Protein name |
Serine/threonine-protein kinase D2 |
Names |
nPKC-D2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:25865 |
EC number |
2.7.11.13: Protein-serine/threonine kinases |
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Target domain |
589-845 (Protein kinase domain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
694-716 (Activation loop from InterPro)
Target domain |
551-807 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure

Activated structure

5 structures for Q9BZL6
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
2COA | NMR | - | A | 398-509 | PDB |
3BGM | X-ray | 160 A | C | 526-534 | PDB |
4NNX | X-ray | 210 A | C | 526-534 | PDB |
4NNY | X-ray | 190 A | C | 526-534 | PDB |
AF-Q9BZL6-F1 | Predicted | AlphaFoldDB |
521 variants for Q9BZL6
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs1459489245 CA406470779 |
2 | A>S | No |
ClinGen gnomAD |
|
rs1599847447 CA406470774 |
3 | T>P | No |
ClinGen Ensembl |
|
CA9531258 rs780606637 |
5 | P>S | No |
ClinGen ExAC gnomAD |
|
CA406470753 rs1158283095 |
6 | S>F | No |
ClinGen gnomAD |
|
CA9531257 rs754611092 |
8 | P>L | No |
ClinGen ExAC gnomAD |
|
CA406470739 rs1197005723 |
9 | A>T | No |
ClinGen gnomAD |
|
rs758265254 CA9531254 |
14 | S>F | No |
ClinGen ExAC gnomAD |
|
rs765247412 CA9531252 |
17 | P>S | No |
ClinGen ExAC gnomAD |
|
rs752789164 CA9531250 |
18 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759742456 CA9531249 |
21 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759742456 CA9531248 |
21 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA406470613 rs1568741809 |
21 | P>S | No |
ClinGen Ensembl |
|
CA9531247 rs774438856 |
22 | P>A | No |
ClinGen ExAC gnomAD |
|
CA406470597 rs1330793119 |
22 | P>L | No |
ClinGen gnomAD |
|
rs1330793119 CA406470599 |
22 | P>R | No |
ClinGen gnomAD |
|
rs774438856 CA309070636 |
22 | P>S | No |
ClinGen ExAC gnomAD |
|
rs895194317 CA309070616 |
23 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA406470575 rs1276566248 |
24 | G>D | No |
ClinGen gnomAD |
|
CA9531245 rs376804861 |
25 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1175980848 CA406470570 |
25 | G>R | No |
ClinGen TOPMed |
|
CA9531244 rs773614119 |
27 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1599847348 CA406470551 |
27 | E>Q | No |
ClinGen Ensembl |
|
rs770253505 CA9531243 |
29 | Q>P | No |
ClinGen ExAC gnomAD |
|
CA406470504 rs1345174993 |
30 | S>L | No |
ClinGen TOPMed |
|
CA406470492 rs1465313123 |
31 | P>L | No |
ClinGen gnomAD |
|
CA9531241 rs776148897 |
32 | P>S | No |
ClinGen ExAC gnomAD |
|
rs771902315 CA9531237 |
36 | P>L | No |
ClinGen ExAC gnomAD |
|
rs779561959 CA9531238 |
36 | P>S | No |
ClinGen ExAC gnomAD |
|
rs577377407 CA9531236 |
38 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA9531235 rs778885396 |
40 | A>T | No |
ClinGen ExAC gnomAD |
|
CA406470378 rs1458435913 |
42 | G>S | No |
ClinGen gnomAD |
|
rs753727761 CA9531233 |
44 | G>R | No |
ClinGen ExAC gnomAD |
|
CA406470261 rs1568741687 |
50 | Q>H | No |
ClinGen Ensembl |
|
CA9531232 rs781263890 |
51 | I>F | No |
ClinGen ExAC gnomAD |
|
rs200962415 CA406470242 |
51 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1367289117 CA406470216 |
53 | L>P | No |
ClinGen gnomAD |
|
CA406493862 rs1225294414 |
56 | E>K | No |
ClinGen TOPMed |
|
CA406493826 rs1174094432 |
61 | P>S | No |
ClinGen gnomAD |
|
rs146804334 CA9531225 |
62 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs777001291 CA9531224 |
63 | A>T | No |
ClinGen ExAC gnomAD |
|
CA406493798 rs1450740440 |
66 | L>M | No |
ClinGen gnomAD |
|
CA406493781 rs1599847212 |
68 | H>Q | No |
ClinGen Ensembl |
|
rs911566004 CA309114822 |
68 | H>Y | No |
ClinGen TOPMed gnomAD |
|
rs1442222205 CA406493750 |
73 | A>D | No |
ClinGen TOPMed gnomAD |
|
rs1442222205 CA406493748 |
73 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs1226379710 CA406493675 |
81 | F>L | No |
ClinGen gnomAD |
|
CA406493663 rs1411343007 |
83 | E>D | No |
ClinGen gnomAD |
|
CA9531208 rs750649124 |
83 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9531209 rs750649124 |
83 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA406493652 rs1414355523 |
85 | G>C | No |
ClinGen TOPMed |
|
CA406493637 rs1405428090 |
87 | Y>C | No |
ClinGen gnomAD |
|
rs1226177313 CA406493624 |
89 | L>F | No |
ClinGen gnomAD |
|
CA406493617 rs1342751346 |
90 | Y>S | No |
ClinGen TOPMed |
|
rs764480251 CA9531204 |
91 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9531203 rs761279629 |
92 | K>E | No |
ClinGen ExAC gnomAD |
|
rs1202715828 CA406493539 |
101 | T>K | No |
ClinGen TOPMed |
|
CA309113382 rs866313306 |
103 | A>T | No |
ClinGen Ensembl |
|
CA9531200 rs759189553 |
105 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1376459417 CA406493496 |
108 | L>P | No |
ClinGen gnomAD |
|
CA9531198 rs770763595 |
110 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA406493486 rs1328358048 |
110 | R>H | No |
ClinGen gnomAD |
|
rs1263515553 CA406493473 |
112 | S>C | No |
ClinGen TOPMed |
|
COSM3766383 rs769577782 CA9531195 |
116 | Q>E | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1360459560 CA406493436 |
117 | E>D | No |
ClinGen gnomAD |
|
rs748139278 CA9531194 |
120 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1599845460 CA406493407 |
122 | E>G | No |
ClinGen Ensembl |
|
rs1599845454 CA406493400 |
123 | V>G | No |
ClinGen Ensembl |
|
CA406493386 rs1167253874 |
126 | S>P | No |
ClinGen gnomAD |
|
rs780042850 CA9531193 |
126 | S>W | No |
ClinGen ExAC gnomAD |
|
rs938146133 CA309110834 |
128 | S>L | No |
ClinGen gnomAD |
|
rs768631871 CA9531173 |
129 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA309110805 rs927087756 |
130 | T>I | No |
ClinGen gnomAD |
|
CA406492601 rs1299020297 |
131 | F>I | No |
ClinGen gnomAD |
|
rs1216877513 CA406492587 |
131 | F>L | No |
ClinGen TOPMed gnomAD |
|
CA9531170 rs553302740 |
135 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA406492498 rs1449191589 |
137 | R>C | No |
ClinGen gnomAD |
|
rs1377511257 CA406492488 |
138 | P>T | No |
ClinGen gnomAD |
|
CA309110721 rs868644975 |
140 | A>S | No |
ClinGen TOPMed |
|
CA406492457 rs868644975 |
140 | A>T | No |
ClinGen TOPMed |
|
CA406492390 rs1599842960 |
144 | H>L | No |
ClinGen Ensembl |
|
CA406492337 rs1476027505 |
148 | A>S | No |
ClinGen gnomAD |
|
CA406492315 rs1483165783 |
150 | A>T | No |
ClinGen gnomAD |
|
rs1252596198 CA406492305 |
150 | A>V | No |
ClinGen gnomAD |
|
CA9531164 rs755581255 |
151 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768112939 CA9531165 |
151 | F>Y | No |
ClinGen ExAC gnomAD |
|
CA309110673 rs974412159 |
154 | H>Y | No |
ClinGen TOPMed |
|
CA406492229 rs1312559136 |
155 | C>Y | No |
ClinGen gnomAD |
|
CA309110668 rs866401102 |
156 | G>W | No |
ClinGen Ensembl |
|
CA406492202 rs1357709078 |
157 | E>K | No |
ClinGen gnomAD |
|
CA406492136 rs143631618 |
160 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA406492133 rs1300031426 |
161 | G>R | No |
ClinGen gnomAD |
|
rs764857604 CA9531159 |
163 | V>G | No |
ClinGen ExAC gnomAD |
|
CA9531158 rs761575561 |
164 | R>C | No |
ClinGen ExAC gnomAD |
|
rs1462839119 CA406492080 |
165 | Q>* | No |
ClinGen gnomAD |
|
CA406492078 rs1409544522 |
165 | Q>R | No |
ClinGen gnomAD |
|
rs1181150074 CA406492044 |
167 | L>P | No |
ClinGen gnomAD |
|
CA309110634 rs867399842 |
168 | K>N | No |
ClinGen Ensembl |
|
CA406492015 rs1188963196 |
169 | C>* | No |
ClinGen gnomAD |
|
rs1252211147 CA406492020 |
169 | C>Y | No |
ClinGen gnomAD |
|
CA309110633 rs752231529 |
170 | D>E | No |
ClinGen gnomAD |
|
CA406492011 rs768543948 |
170 | D>N | No |
ClinGen ExAC gnomAD |
|
rs768543948 CA9531156 |
170 | D>Y | No |
ClinGen ExAC gnomAD |
|
rs763806947 CA9531114 |
175 | N>H | No |
ClinGen ExAC |
|
rs1182630223 CA406490109 |
176 | Y>H | No |
ClinGen gnomAD |
|
CA9531112 rs371737313 |
184 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA406489922 rs1599836697 |
186 | N>H | No |
ClinGen Ensembl |
|
rs773291492 CA9531109 |
186 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1279702203 CA406489842 |
189 | S>T | No |
ClinGen gnomAD |
|
CA406489815 rs1443778046 |
190 | G>E | No |
ClinGen TOPMed gnomAD |
|
rs144404837 CA406489802 |
191 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs776989283 CA9531106 |
191 | A>S | No |
ClinGen ExAC gnomAD |
|
rs776989283 CA406489811 |
191 | A>T | No |
ClinGen ExAC gnomAD |
|
rs144404837 CA9531105 |
191 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA406489790 rs1329803436 |
192 | R>C | No |
ClinGen TOPMed |
|
rs867808245 CA309105501 |
192 | R>H | No |
ClinGen gnomAD |
|
CA406489760 rs1433688868 |
194 | R>G | No |
ClinGen TOPMed |
|
rs962788073 CA309105500 COSM439844 |
195 | R>C | endometrium breast [Cosmic] | No |
ClinGen cosmic curated TOPMed |
CA309105497 rs1016024133 |
196 | L>P | No |
ClinGen Ensembl |
|
rs775746699 CA9531103 |
199 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA406489590 rs1159314940 |
205 | H>L | No |
ClinGen TOPMed gnomAD |
|
rs1471268301 CA406489587 |
205 | H>Q | No |
ClinGen gnomAD |
|
CA406489561 rs1599836553 |
207 | V>G | No |
ClinGen Ensembl |
|
CA9531101 rs746372258 |
207 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs150056935 CA9531100 |
208 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA309105475 rs1026645138 |
208 | R>H | No |
ClinGen Ensembl |
|
CA9531099 rs756752090 |
210 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1465303410 CA406489522 |
211 | T>I | No |
ClinGen Ensembl |
|
rs199909805 CA309105470 |
212 | S>F | No |
ClinGen TOPMed gnomAD |
|
CA406489493 rs1165302976 |
216 | P>T | No |
ClinGen TOPMed |
|
rs376158404 CA9531095 |
217 | C>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA406489484 rs1342394755 |
217 | C>Y | No |
ClinGen gnomAD |
|
rs767240469 CA9531094 |
218 | T>M | No |
ClinGen ExAC gnomAD |
|
CA406489466 rs1328472390 |
220 | E>A | No |
ClinGen gnomAD |
|
CA406489467 rs1281174377 |
220 | E>K | No |
ClinGen Ensembl |
|
CA9531069 rs370465589 |
224 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs752855161 CA9531068 |
224 | R>H | No |
ClinGen ExAC gnomAD |
|
rs759802222 CA9531066 |
225 | S>C | No |
ClinGen ExAC gnomAD |
|
rs1599836273 CA406489397 |
226 | T>P | No |
ClinGen Ensembl |
|
rs139391523 CA9531065 |
227 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA406489390 rs1599836261 |
227 | T>P | No |
ClinGen Ensembl |
|
CA9531063 rs763476816 |
228 | E>K | No |
ClinGen ExAC gnomAD |
|
CA9531062 rs769193163 |
229 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA406489370 rs769193163 |
229 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1599836232 CA406489367 |
229 | L>P | No |
ClinGen Ensembl |
|
rs769193163 CA9531061 |
229 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA406489346 rs1416947929 |
232 | R>C | No |
ClinGen gnomAD |
|
rs780694769 CA9531059 |
233 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746759244 CA9531057 |
233 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746759244 CA9531058 |
233 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA309105348 rs909950029 |
234 | P>S | No |
ClinGen Ensembl |
|
CA9531055 rs758351115 |
235 | P>L | No |
ClinGen ExAC gnomAD |
|
rs1202454227 CA406489322 |
235 | P>S | No |
ClinGen TOPMed |
|
CA406489301 rs1233988221 |
237 | S>F | No |
ClinGen gnomAD |
|
rs1273019175 CA406489262 |
241 | S>F | No |
ClinGen gnomAD |
|
rs1273019175 CA406489264 |
241 | S>Y | No |
ClinGen gnomAD |
|
CA406489242 rs1187714085 |
243 | A>V | No |
ClinGen gnomAD |
|
CA9531050 rs767608222 |
245 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA406489202 rs1299939093 |
247 | T>A | No |
ClinGen gnomAD |
|
CA9531047 rs143170215 |
247 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs950595996 CA309105326 |
248 | G>A | No |
ClinGen Ensembl |
|
CA9531045 rs773706136 |
249 | R>C | No |
ClinGen ExAC gnomAD |
|
COSM191148 rs1026152619 CA309105319 |
249 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA309105313 rs976363809 |
251 | I>T | No |
ClinGen TOPMed gnomAD |
|
CA9531044 rs770391326 |
251 | I>V | No |
ClinGen ExAC |
|
rs776236498 CA9531042 |
252 | E>K | No |
ClinGen ExAC gnomAD |
|
CA309105303 rs965969111 |
254 | D>E | No |
ClinGen gnomAD |
|
CA9531039 rs145571238 |
259 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs145571238 CA309105297 |
259 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA309105284 rs868447537 |
262 | K>N | No |
ClinGen Ensembl |
|
rs1259313946 CA406489016 COSM1287398 |
264 | P>L | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs967592855 CA309105283 |
266 | T>S | No |
ClinGen TOPMed |
|
CA9531036 rs778689797 |
270 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs143238059 CA9531037 |
270 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA309105275 rs903560915 |
271 | S>N | No |
ClinGen TOPMed gnomAD |
|
CA406488962 rs903560915 |
271 | S>T | No |
ClinGen TOPMed gnomAD |
|
CA406488943 COSM566759 rs1326449512 |
274 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA406488928 rs1442859263 |
277 | V>I | No |
ClinGen TOPMed gnomAD |
|
rs1386246308 CA406488889 |
282 | K>R | No |
ClinGen gnomAD |
|
CA406488834 rs1346579465 |
290 | R>Q | No |
ClinGen gnomAD |
|
CA9531031 rs751786745 |
296 | K>R | No |
ClinGen ExAC gnomAD |
|
rs1227922216 CA406488752 |
300 | F>L | No |
ClinGen gnomAD |
|
CA9531003 rs775176492 |
303 | H>Q | No |
ClinGen ExAC gnomAD |
|
rs765898055 CA309103542 |
305 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs142714532 CA309103537 |
305 | R>H | No |
ClinGen ESP TOPMed |
|
CA9531001 rs759288903 |
307 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs369442988 CA9531000 |
309 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA9530999 rs202009599 |
309 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs369442988 CA406488691 |
309 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA9530997 rs773190037 |
310 | V>I | No |
ClinGen ExAC gnomAD |
|
rs1462923300 CA406488677 |
311 | P>L | No |
ClinGen gnomAD |
|
rs1375183247 CA406488671 |
312 | N>S | No |
ClinGen gnomAD |
|
rs1163218107 CA406488664 |
313 | D>G | No |
ClinGen gnomAD |
|
CA406488663 rs1163218107 |
313 | D>V | No |
ClinGen gnomAD |
|
rs1258415298 CA406488630 |
318 | A>D | No |
ClinGen gnomAD |
|
rs747061893 CA9530995 |
321 | N>Y | No |
ClinGen ExAC gnomAD |
|
VAR_042330 rs45455991 CA9530984 |
324 | V>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs371760202 CA9530983 |
325 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1167303043 CA406488567 |
326 | M>T | No |
ClinGen gnomAD |
|
CA406488562 rs1468770997 |
327 | E>* | No |
ClinGen gnomAD |
|
CA9530980 rs772921569 |
329 | A>P | No |
ClinGen ExAC |
|
CA309103367 rs915919073 |
330 | T>I | No |
ClinGen Ensembl |
|
CA9530976 rs775481750 COSM998471 |
331 | D>N | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs775481750 CA9530977 |
331 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9530975 rs561186732 |
332 | F>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1468714265 CA406488517 |
333 | S>R | No |
ClinGen gnomAD |
|
rs745991981 CA9530974 |
334 | E>K | No |
ClinGen ExAC gnomAD |
|
rs779171577 CA9530973 |
337 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779171577 CA406488494 |
337 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9530971 rs749621217 |
338 | S>G | No |
ClinGen ExAC gnomAD |
|
CA309103304 rs780980915 |
338 | S>N | No |
ClinGen gnomAD |
|
rs10402397 CA9530969 |
339 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA309103279 rs756838548 |
340 | L>F | No |
ClinGen TOPMed |
|
CA9530967 rs781782443 |
341 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA406488459 rs1325939449 |
342 | D>G | No |
ClinGen gnomAD |
|
rs1164008849 CA406488444 |
344 | S>L | No |
ClinGen TOPMed |
|
CA406488423 rs1384456428 |
347 | S>A | No |
ClinGen gnomAD |
|
rs374895780 CA9530964 |
348 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9530965 rs751082013 |
348 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA309103257 rs374895780 |
348 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1446075654 CA406488367 |
356 | E>D | No |
ClinGen gnomAD |
|
rs761661352 CA309103243 |
356 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761661352 CA9530960 |
356 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9530959 rs769274317 |
358 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA406488349 rs1278962843 |
359 | L>F | No |
ClinGen gnomAD |
|
rs759626748 CA9530957 |
359 | L>P | No |
ClinGen ExAC gnomAD |
|
CA406488344 rs1372348261 |
360 | H>Y | No |
ClinGen gnomAD |
|
rs199584064 CA406488334 |
361 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs199584064 CA9530955 COSM1222066 |
361 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs140335932 CA9530954 |
363 | E>V | No |
ClinGen ESP ExAC gnomAD |
|
rs376747447 CA9530951 |
367 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1173082921 CA406488253 |
368 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs1427103439 CA406488226 |
370 | G>D | No |
ClinGen gnomAD |
|
rs781759427 CA9530948 |
370 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA406488193 rs1474936936 |
373 | Q>R | No |
ClinGen gnomAD |
|
CA309101677 rs941157980 |
376 | L>R | No |
ClinGen TOPMed |
|
rs200312083 CA309101673 |
377 | G>V | No |
ClinGen 1000Genomes |
|
CA9530925 rs745430394 |
378 | Y>H | No |
ClinGen ExAC gnomAD |
|
CA406487382 rs1410294659 |
389 | R>P | No |
ClinGen gnomAD |
|
CA9530921 rs763806572 |
391 | T>M | No |
ClinGen ExAC gnomAD |
|
CA9530919 rs201153892 |
393 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9530918 rs767550862 |
394 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA406487278 rs1568728189 |
397 | T>N | No |
ClinGen Ensembl |
|
rs866422417 CA309101637 |
398 | T>M | No |
ClinGen TOPMed gnomAD |
|
CA406486743 rs1222637788 |
399 | L>P | No |
ClinGen gnomAD |
|
CA406486732 rs1323724325 |
400 | R>L | No |
ClinGen TOPMed gnomAD |
|
CA406486736 rs1323724325 |
400 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA406486722 rs1304978090 |
401 | E>A | No |
ClinGen gnomAD |
|
rs765515951 CA9530915 |
401 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9530914 rs762149643 |
404 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA406486687 rs762149643 |
404 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA406486645 rs1311305182 |
407 | Y>H | No |
ClinGen gnomAD |
|
rs776997966 COSM998467 CA9530913 |
408 | S>N | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1393513366 CA406486619 |
409 | N>H | No |
ClinGen gnomAD |
|
rs768896657 CA9530912 |
409 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9530910 rs775838431 |
410 | K>R | No |
ClinGen ExAC gnomAD |
|
CA406486425 rs747857891 |
418 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9530885 rs747857891 |
418 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA406486397 rs1170175592 |
420 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA9530882 rs751548679 |
425 | C>Y | No |
ClinGen ExAC |
|
rs944355588 CA309101210 |
426 | I>V | No |
ClinGen TOPMed |
|
rs141249700 CA309101208 |
427 | T>K | No |
ClinGen ESP |
|
rs757388004 CA9530880 |
429 | F>C | No |
ClinGen ExAC gnomAD |
|
CA9530877 rs760970123 |
430 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA9530878 rs151039989 |
430 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9530879 rs151039989 |
430 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1193381782 CA406486242 |
432 | N>S | No |
ClinGen TOPMed |
|
CA9530876 rs752943052 |
433 | T>M | No |
ClinGen ExAC gnomAD |
|
CA9530875 rs767870846 |
435 | N>K | No |
ClinGen ExAC gnomAD |
|
CA9530874 rs759956923 |
437 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA406486141 rs1291008144 |
439 | K>T | No |
ClinGen gnomAD |
|
CA9530854 rs766836075 |
442 | P>A | No |
ClinGen ExAC gnomAD |
|
CA9530853 rs763539356 |
442 | P>L | No |
ClinGen ExAC gnomAD |
|
CA406485638 rs766836075 |
442 | P>S | No |
ClinGen ExAC gnomAD |
|
CA406485621 rs1162012004 |
445 | E>G | No |
ClinGen TOPMed |
|
CA9530850 rs761298497 |
445 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9530848 rs768462170 |
448 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA406485580 rs1445769377 |
451 | S>F | No |
ClinGen TOPMed |
|
rs536434220 CA406485578 |
452 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9530845 rs536434220 |
452 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA406485568 rs1159210222 |
453 | Q>H | No |
ClinGen TOPMed gnomAD |
|
CA406485559 rs1202874784 |
454 | N>K | No |
ClinGen TOPMed gnomAD |
|
CA406485552 rs1286065697 |
455 | F>L | No |
ClinGen gnomAD |
|
CA406485554 rs1349389725 |
455 | F>S | No |
ClinGen gnomAD |
|
CA309099306 rs866307826 |
458 | V>A | No |
ClinGen Ensembl |
|
rs778780083 CA9530843 |
459 | P>L | No |
ClinGen ExAC gnomAD |
|
CA9530844 rs745819170 |
459 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9530841 rs187308910 |
460 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9530840 rs527595835 |
462 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA406485457 rs1172573215 |
463 | N>S | No |
ClinGen gnomAD |
|
rs1478553121 CA406485444 |
464 | P>S | No |
ClinGen gnomAD |
|
CA406485411 rs1245519029 |
466 | C>F | No |
ClinGen TOPMed |
|
CA406485377 rs1179631507 |
468 | E>D | No |
ClinGen TOPMed |
|
CA406485390 rs1472074362 |
468 | E>K | No |
ClinGen TOPMed |
|
CA9530836 rs758766629 |
470 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1190626310 CA406485351 |
471 | T>A | No |
ClinGen gnomAD |
|
rs765711862 CA9530834 |
473 | N>D | No |
ClinGen ExAC gnomAD |
|
rs902275668 CA309099277 |
473 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA309099275 rs1051056547 |
474 | A>T | No |
ClinGen gnomAD |
|
rs761353253 CA9530833 |
475 | T>I | No |
ClinGen ExAC gnomAD |
|
rs1276971441 CA406485254 |
478 | V>M | No |
ClinGen gnomAD |
|
CA9530830 COSM1161280 rs760413562 |
480 | E>K | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA9530829 rs775354542 |
481 | M>T | No |
ClinGen ExAC gnomAD |
|
CA9530827 rs759304190 |
484 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770816078 CA9530825 |
485 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1414936404 CA406485146 |
486 | P>A | No |
ClinGen gnomAD |
|
rs144835599 CA9530824 |
486 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs768809577 CA9530822 |
487 | G>D | No |
ClinGen ExAC gnomAD |
|
rs1423810249 CA406485099 |
490 | S>T | No |
ClinGen gnomAD |
|
CA9530821 RCV000962733 rs80021620 |
493 | G>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs80021620 CA406485061 |
493 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9530820 rs140899472 |
494 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9530819 rs758778443 |
496 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
VAR_042331 CA9530818 rs55716765 |
496 | A>V | No |
ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD |
|
CA406485022 rs1213111699 |
497 | A>T | No |
ClinGen gnomAD |
|
rs1317555367 CA406485013 |
497 | A>V | No |
ClinGen gnomAD |
|
CA9530816 rs757860622 |
498 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779434479 CA9530817 |
498 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA309099241 rs977555608 |
499 | G>S | No |
ClinGen Ensembl |
|
CA9530815 rs753340735 |
504 | I>V | No |
ClinGen ExAC gnomAD |
|
CA406484920 rs1448737424 |
505 | R>C | No |
ClinGen gnomAD |
|
rs201530743 CA9530814 |
505 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA309099235 rs201530743 |
505 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1326610553 CA406484887 |
507 | A>V | No |
ClinGen gnomAD |
|
CA9530813 rs760325391 |
509 | M>T | No |
ClinGen ExAC gnomAD |
|
rs199530973 CA9530811 |
511 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA309099221 rs958934940 |
515 | D>G | No |
ClinGen Ensembl |
|
rs774048512 CA406484773 |
516 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774048512 CA9530809 |
516 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA406484742 rs1181879099 |
518 | S>R | No |
ClinGen TOPMed gnomAD |
|
rs1473416821 CA406484738 |
519 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs1473416821 CA406484734 |
519 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA406484691 rs1457641247 |
522 | H>R | No |
ClinGen gnomAD |
|
rs1197173926 CA406484695 |
522 | H>Y | No |
ClinGen gnomAD |
|
rs776626136 CA9530806 |
523 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9530805 rs77539002 |
523 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA406484660 rs1599824962 |
524 | P>L | No |
ClinGen Ensembl |
|
CA309099203 rs371981872 |
526 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
CA9530785 rs202076996 |
526 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9530784 rs772278023 |
528 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1381798248 CA406483813 |
530 | L>P | No |
ClinGen TOPMed |
|
CA9530783 rs138428419 |
531 | S>R | No |
ClinGen ESP ExAC TOPMed |
|
CA406483760 rs1287892831 |
532 | I>V | No |
ClinGen TOPMed |
|
rs1293807364 CA406483576 |
538 | Q>H | No |
ClinGen gnomAD |
|
CA406483530 rs1438134662 |
540 | Q>H | No |
ClinGen gnomAD |
|
CA309098640 rs1016054137 |
541 | E>Q | No |
ClinGen Ensembl |
|
CA406483493 rs1342991374 |
542 | N>K | No |
ClinGen gnomAD |
|
rs1388281106 CA406483489 |
543 | V>M | No |
ClinGen TOPMed |
|
CA406483317 rs1201146902 |
545 | I>V | No |
ClinGen TOPMed |
|
rs1315711171 CA406482986 |
559 | S>A | No |
ClinGen gnomAD |
|
rs1256451401 CA406482875 |
565 | V>F | No |
ClinGen TOPMed |
|
rs1341876942 CA406482851 |
566 | Y>F | No |
ClinGen TOPMed gnomAD |
|
rs928925940 CA309097962 |
568 | G>A | No |
ClinGen Ensembl |
|
rs1248881267 CA406482316 |
570 | H>R | No |
ClinGen gnomAD |
|
rs1173012563 CA406482286 |
572 | K>N | No |
ClinGen gnomAD |
|
CA406482251 rs1447925115 |
575 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA309097953 rs897509792 |
575 | R>W | No |
ClinGen gnomAD |
|
CA406482238 rs56144729 |
576 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA406482244 rs1337774015 |
576 | D>H | No |
ClinGen gnomAD |
|
rs766572176 CA9530726 COSM998461 |
578 | A>E | endometrium prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA406482187 rs1391627261 |
581 | V>I | No |
ClinGen TOPMed gnomAD |
|
CA9530725 rs572801854 |
585 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs750665196 CA9530724 COSM439841 |
586 | R>H | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1197811373 CA406481909 COSM566762 |
592 | E>D | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1413386361 CA406481899 |
593 | S>N | No |
ClinGen TOPMed gnomAD |
|
CA406481819 rs1312702342 |
596 | R>Q | No |
ClinGen TOPMed |
|
rs1213734409 COSM302992 CA406481821 |
596 | R>W | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA406481646 rs1182473898 |
603 | Q>H | No |
ClinGen gnomAD |
|
rs34325043 VAR_042332 CA9530702 |
604 | S>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA406481446 rs1568721720 |
604 | S>N | No |
ClinGen Ensembl |
|
CA9530700 rs761081110 |
606 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs200536563 CA9530701 |
606 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA309097414 rs994152284 |
607 | H>Q | No |
ClinGen TOPMed gnomAD |
|
CA9530694 rs748977120 |
617 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA406481132 rs1423792152 |
618 | E>K | No |
ClinGen gnomAD |
|
rs1476677646 CA406481104 |
619 | T>M | No |
ClinGen gnomAD |
|
rs1463074692 CA406481100 |
620 | P>T | No |
ClinGen gnomAD |
|
CA406480992 rs1320599219 |
625 | V>M | No |
ClinGen TOPMed |
|
CA406480905 rs1317458016 |
630 | L>M | No |
ClinGen gnomAD |
|
CA9530686 rs757345373 |
641 | S>G | No |
ClinGen ExAC gnomAD |
|
CA9530685 rs754074032 |
644 | G>V | No |
ClinGen ExAC gnomAD |
|
rs756439784 CA9530683 |
645 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9530684 rs764267606 |
645 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9530682 rs34795467 |
649 | R>C | No |
ClinGen ExAC gnomAD |
|
CA9530681 rs767961173 |
649 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1255333611 CA406479831 |
651 | T>A | No |
ClinGen TOPMed |
|
rs984151744 CA309097337 |
651 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs1163254483 CA406479707 |
656 | T>N | No |
ClinGen gnomAD |
|
CA406479715 rs1599820578 |
656 | T>P | No |
ClinGen Ensembl |
|
rs1431664735 CA406478244 |
662 | L>S | No |
ClinGen gnomAD |
|
CA9530652 rs775462183 |
663 | R>G | No |
ClinGen ExAC gnomAD |
|
CA406478224 rs1481482324 |
664 | H>Y | No |
ClinGen gnomAD |
|
rs1209844347 CA406478131 |
671 | V>A | No |
ClinGen Ensembl |
|
CA406478018 rs1263015374 |
682 | L>M | No |
ClinGen gnomAD |
|
rs1311268655 CA406477965 |
688 | F>I | No |
ClinGen TOPMed gnomAD |
|
rs748368507 CA9530647 |
690 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs758876482 CA9530624 |
700 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1237138259 CA406476966 |
700 | R>H | No |
ClinGen gnomAD |
|
CA309086043 rs926442685 |
701 | I>M | No |
ClinGen Ensembl |
|
rs779609817 CA9530622 |
703 | G>S | No |
ClinGen ExAC gnomAD |
|
CA406476897 rs756792184 |
704 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756792184 CA9530621 |
704 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763752080 CA9530619 |
706 | S>L | No |
ClinGen ExAC gnomAD |
|
rs1218479922 CA406476810 |
708 | R>C | No |
ClinGen TOPMed |
|
rs1387904543 CA406476791 |
709 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs1387904543 CA406476794 |
709 | R>G | No |
ClinGen TOPMed gnomAD |
|
COSM712233 CA9530616 rs767210044 |
709 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA406476756 rs1328477526 |
711 | V>L | No |
ClinGen gnomAD |
|
CA406476707 rs1392181290 |
714 | T>M | No |
ClinGen gnomAD |
|
CA9530613 rs766343388 |
715 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1568712890 CA406476639 |
720 | P>S | No |
ClinGen Ensembl |
|
rs768869479 CA9530610 |
725 | N>D | No |
ClinGen ExAC gnomAD |
|
CA309085985 rs754211889 |
731 | S>L | No |
ClinGen Ensembl |
|
CA406476503 rs1208685921 |
731 | S>T | No |
ClinGen TOPMed gnomAD |
|
CA406476459 rs1225323516 |
734 | M>T | No |
ClinGen gnomAD |
|
rs1240051755 CA406476369 |
741 | M>L | No |
ClinGen TOPMed gnomAD |
|
rs1240051755 CA406476367 |
741 | M>V | No |
ClinGen TOPMed gnomAD |
|
CA9530605 rs779519593 |
747 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA406476212 rs1304923175 |
752 | N>S | No |
ClinGen gnomAD |
|
rs866307765 CA309085946 |
753 | E>K | No |
ClinGen Ensembl |
|
rs755714612 CA9530601 |
757 | I>V | No |
ClinGen ExAC gnomAD |
|
CA9530600 rs752280760 |
758 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1375518183 CA406476109 |
759 | D>H | No |
ClinGen gnomAD |
|
CA9530597 rs766259352 |
763 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1270405405 CA406476075 |
763 | N>S | No |
ClinGen gnomAD |
|
rs764079163 COSM267262 CA9530593 |
765 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs370149673 CA406476052 |
767 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs370149673 CA9530592 |
767 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1353138979 CA406476041 |
768 | Y>S | No |
ClinGen gnomAD |
|
rs775542092 CA406476032 |
769 | P>L | No |
ClinGen ExAC gnomAD |
|
rs775542092 CA9530591 |
769 | P>Q | No |
ClinGen ExAC gnomAD |
|
rs1346305592 CA406476031 |
770 | A>P | No |
ClinGen gnomAD |
|
CA406476022 rs1398074050 |
771 | S>N | No |
ClinGen gnomAD |
|
CA406476019 rs774867853 |
771 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774867853 CA9530589 |
771 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs55933311 CA9530586 |
773 | W>G | No |
ClinGen ExAC gnomAD |
|
rs55933311 CA309085892 VAR_042333 |
773 | W>R | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
rs201225333 CA9530585 |
775 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs747736186 CA9530583 |
776 | I>N | No |
ClinGen ExAC gnomAD |
|
CA9530582 rs780669827 |
779 | G>E | No |
ClinGen ExAC gnomAD |
|
CA406475291 rs1469763918 |
781 | I>V | No |
ClinGen gnomAD |
|
CA406475264 rs1482366933 |
782 | D>E | No |
ClinGen gnomAD |
|
rs1206670046 COSM1304817 CA406475271 |
782 | D>G | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1244929696 CA406475259 |
783 | L>F | No |
ClinGen TOPMed |
|
rs1555825242 CA9530552 |
785 | N>S | No |
ClinGen Ensembl |
|
CA406475141 rs1196779403 |
791 | K>N | No |
ClinGen TOPMed gnomAD |
|
rs755165428 CA9530549 |
792 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1341681749 CA406475118 |
792 | M>R | No |
ClinGen TOPMed gnomAD |
|
CA309084025 rs906595714 |
792 | M>V | No |
ClinGen Ensembl |
|
CA406475112 rs1361412854 |
793 | R>C | No |
ClinGen gnomAD |
|
CA406475099 rs1306793696 |
795 | R>C | No |
ClinGen gnomAD |
|
rs751808641 CA9530548 |
795 | R>H | No |
ClinGen ExAC gnomAD |
|
rs373418059 CA309083988 |
797 | S>N | No |
ClinGen ESP TOPMed |
|
rs1025031662 CA309083973 |
798 | V>M | No |
ClinGen Ensembl |
|
CA406475074 rs1280804997 |
799 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA406475056 rs1433738565 |
801 | S>C | No |
ClinGen gnomAD |
|
CA406475051 rs1410968801 |
802 | L>F | No |
ClinGen TOPMed |
|
CA406475046 rs1244118550 |
803 | S>G | No |
ClinGen gnomAD |
|
rs766749822 CA9530547 |
805 | P>H | No |
ClinGen ExAC |
|
CA406475020 rs1367861336 |
806 | W>* | No |
ClinGen gnomAD |
|
rs1425826712 CA406475023 |
806 | W>* | No |
ClinGen gnomAD |
|
rs1185826348 CA406474987 |
809 | E>A | No |
ClinGen gnomAD |
|
CA9530529 rs758661830 |
812 | T>M | No |
ClinGen ExAC gnomAD |
|
rs1224764339 CA406474937 |
816 | L>F | No |
ClinGen gnomAD |
|
rs1305237784 CA406474936 |
816 | L>H | No |
ClinGen gnomAD |
|
CA9530526 rs762146805 |
817 | R>L | No |
ClinGen ExAC gnomAD |
|
CA406474931 rs762146805 |
817 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs373208619 CA9530525 |
819 | L>M | No |
ClinGen ESP ExAC gnomAD |
|
CA309083637 rs780442730 |
820 | E>Q | No |
ClinGen gnomAD |
|
CA9530523 rs760124538 |
821 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9530522 rs774992717 |
824 | G>R | No |
ClinGen ExAC gnomAD |
|
rs771555628 CA9530521 |
826 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA406474858 rs1417875543 |
828 | I>M | No |
ClinGen TOPMed gnomAD |
|
CA309083589 rs774846613 |
828 | I>N | No |
ClinGen Ensembl |
|
rs1322375437 CA406474850 |
830 | H>D | No |
ClinGen TOPMed |
|
rs1322375437 CA406474851 |
830 | H>Y | No |
ClinGen TOPMed |
|
CA406474832 rs1428986114 |
832 | S>N | No |
ClinGen gnomAD |
|
CA9530519 rs770736873 |
833 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749135021 CA9530517 |
834 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA309083577 rs536277467 |
834 | D>V | No |
ClinGen 1000Genomes |
|
rs314665 CA406474812 |
835 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs747734223 CA9530515 |
835 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA309083573 rs314665 VAR_061531 |
835 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201625972 CA9530512 |
836 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750647595 CA9530511 |
836 | R>H | No |
ClinGen ExAC gnomAD |
|
CA9530510 rs779057757 |
837 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757614240 CA9530509 |
839 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA406474776 rs1337715827 |
840 | F>L | No |
ClinGen gnomAD |
|
CA406474782 rs1382455501 |
840 | F>L | No |
ClinGen gnomAD |
|
CA406474765 rs1051465175 |
842 | A>G | No |
ClinGen TOPMed |
|
CA309083544 rs1051465175 |
842 | A>V | No |
ClinGen TOPMed |
|
rs754220558 CA9530507 |
843 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs761172786 CA9530505 |
844 | H>R | No |
ClinGen ExAC gnomAD |
|
CA9530504 rs753267078 |
845 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1443824341 CA406474738 |
847 | P>S | No |
ClinGen gnomAD |
|
rs527870015 CA9530501 |
848 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9530500 rs770521796 |
851 | L>M | No |
ClinGen ExAC gnomAD |
|
rs1195832363 CA406474713 |
852 | P>T | No |
ClinGen TOPMed gnomAD |
|
rs1277444596 CA406474704 |
853 | T>M | No |
ClinGen TOPMed gnomAD |
|
CA406474705 rs1481260229 |
853 | T>S | No |
ClinGen gnomAD |
|
CA9530499 rs763388384 |
854 | D>E | No |
ClinGen ExAC gnomAD |
|
CA406474671 rs1334162268 |
858 | G>C | No |
ClinGen TOPMed gnomAD |
|
CA406474673 rs1334162268 |
858 | G>S | No |
ClinGen TOPMed gnomAD |
|
CA406474651 rs1452817692 |
861 | C>F | No |
ClinGen TOPMed |
|
rs921682772 CA309083475 |
862 | P>S | No |
ClinGen gnomAD |
|
rs769789721 CA9530497 |
863 | P>Q | No |
ClinGen ExAC gnomAD |
|
CA406474640 rs1392087671 |
863 | P>S | No |
ClinGen gnomAD |
|
rs1301293182 CA406474637 |
864 | Q>K | No |
ClinGen gnomAD |
|
CA406474617 rs1365976163 |
866 | H>R | No |
ClinGen gnomAD |
|
rs772173802 CA9530494 |
867 | D>E | No |
ClinGen ExAC gnomAD |
|
rs745979602 CA9530493 |
868 | M>L | No |
ClinGen ExAC gnomAD |
|
CA9530492 rs779143456 |
869 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA406474597 rs779143456 |
869 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA406474585 rs1351154579 |
871 | L>M | No |
ClinGen TOPMed |
|
rs757479531 CA9530491 |
872 | A>V | No |
ClinGen ExAC gnomAD |
|
CA9530489 rs61731796 |
873 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs756527845 CA9530488 |
874 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753177508 CA9530487 |
874 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1211951851 CA406474549 |
876 | S>I | No |
ClinGen gnomAD |
|
rs1211951851 CA406474552 |
876 | S>N | No |
ClinGen gnomAD |
|
CA9530486 rs373787185 |
877 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs759045702 CA9530485 |
879 | L>R | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9BZL6
8 regional properties for Q9BZL6
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Protein kinase domain | 551 - 807 | IPR000719 |
domain | Pleckstrin homology domain | 397 - 511 | IPR001849 |
active_site | Serine/threonine-protein kinase, active site | 670 - 682 | IPR008271 |
binding_site | Protein kinase, ATP binding site | 557 - 580 | IPR017441 |
domain | Diacylglycerol/phorbol-ester binding | 136 - 150 | IPR020454-1 |
domain | Diacylglycerol/phorbol-ester binding | 152 - 161 | IPR020454-2 |
domain | Diacylglycerol/phorbol-ester binding | 291 - 302 | IPR020454-3 |
domain | Diacylglycerol/phorbol-ester binding | 303 - 315 | IPR020454-4 |
Functions
Description | ||
---|---|---|
EC Number | 2.7.11.13 | Protein-serine/threonine kinases |
Subcellular Localization |
|
|
PANTHER Family | ||
PANTHER Subfamily | ||
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
6 GO annotations of cellular component
Name | Definition |
---|---|
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
9 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
calcium-dependent protein kinase C activity | Calcium-dependent catalysis of the reaction: ATP + a protein = ADP + a phosphoprotein. |
metal ion binding | Binding to a metal ion. |
protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
protein kinase C activity | Catalysis of the reaction: ATP + a protein = ADP + a phosphoprotein. This reaction requires diacylglycerol. |
protein kinase C binding | Binding to protein kinase C. |
protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
protein serine/threonine/tyrosine kinase activity | Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
36 GO annotations of biological process
Name | Definition |
---|---|
adaptive immune response | An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). |
angiogenesis | Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. |
cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
cell death | Any biological process that results in permanent cessation of all vital functions of a cell. A cell should be considered dead when any one of the following molecular or morphological criteria is met: (1) the cell has lost the integrity of its plasma membrane; (2) the cell, including its nucleus, has undergone complete fragmentation into discrete bodies (frequently referred to as apoptotic bodies). The cell corpse (or its fragments) may be engulfed by an adjacent cell in vivo, but engulfment of whole cells should not be considered a strict criteria to define cell death as, under some circumstances, live engulfed cells can be released from phagosomes (see PMID:18045538). |
cellular response to vascular endothelial growth factor 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 vascular endothelial growth factor stimulus. |
endothelial tube morphogenesis | The process in which the anatomical structures of a tube are generated and organized from an endothelium. Endothelium refers to the layer of cells lining blood vessels, lymphatics, the heart, and serous cavities, and is derived from bone marrow or mesoderm. Corneal endothelium is a special case, derived from neural crest cells. |
intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
peptidyl-threonine phosphorylation | The phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine. |
positive regulation of angiogenesis | Any process that activates or increases angiogenesis. |
positive regulation of blood vessel endothelial cell migration | Any process that activates or increases the frequency, rate or extent of the migration of the endothelial cells of blood vessels. |
positive regulation of cell adhesion | Any process that activates or increases the frequency, rate or extent of cell adhesion. |
positive regulation of CREB transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of the transcription factor CREB. |
positive regulation of DNA biosynthetic process | Any process that activates or increases the frequency, rate or extent of DNA biosynthetic process. |
positive regulation of DNA-binding transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription. |
positive regulation of endothelial cell chemotaxis | Any process that activates or increases the frequency, rate or extent of endothelial cell chemotaxis. |
positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway | The series of molecular signals initiated by the binding of a vascular endothelial growth factor (VEGF) to its receptor on the surface of a cell, which activates or increases the frequency, rate or extent of endothelial cell chemotaxis. |
positive regulation of endothelial cell migration | Any process that increases the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium. |
positive regulation of endothelial cell proliferation | Any process that activates or increases the rate or extent of endothelial cell proliferation. |
positive regulation of ERK1 and ERK2 cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
positive regulation of fibroblast growth factor receptor signaling pathway | Any process that activates or increases the frequency, rate or extent of fibroblast growth factor receptor signaling pathway activity. |
positive regulation of histone deacetylase activity | Any process that activates or increases the frequency, rate or extent of histone deacetylase activity. |
positive regulation of interleukin-2 production | Any process that activates or increases the frequency, rate, or extent of interleukin-2 production. |
positive regulation of interleukin-8 production | Any process that activates or increases the frequency, rate, or extent of interleukin-8 production. |
positive regulation of intracellular signal transduction | Any process that activates or increases the frequency, rate or extent of intracellular signal transduction. |
positive regulation of NF-kappaB transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB. |
positive regulation of peptidyl-serine phosphorylation | Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-serine. |
positive regulation of T cell receptor signaling pathway | Any process that activates or increases the frequency, rate or extent of signaling pathways initiated by the cross-linking of an antigen receptor on a T cell. |
positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
positive regulation of vascular endothelial growth factor receptor signaling pathway | Any process that activates or increases the frequency, rate or extent of vascular endothelial growth factor receptor signaling pathway activity. |
protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
protein kinase D signaling | A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase D, which occurs as a result of a single trigger reaction or compound. |
protein phosphorylation | The process of introducing a phosphate group on to a protein. |
sphingolipid biosynthetic process | The chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). |
T cell receptor signaling pathway | The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell. |
vascular endothelial growth factor receptor signaling pathway | The series of molecular signals initiated by a ligand binding to a vascular endothelial growth factor receptor (VEGFR) on the surface of the target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
8 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
O94806 | PRKD3 | Serine/threonine-protein kinase D3 | Homo sapiens (Human) | SS |
Q15139 | PRKD1 | Serine/threonine-protein kinase D1 | Homo sapiens (Human) | EV |
Q8K1Y2 | Prkd3 | Serine/threonine-protein kinase D3 | Mus musculus (Mouse) | SS |
Q62101 | Prkd1 | Serine/threonine-protein kinase D1 | Mus musculus (Mouse) | SS |
Q8BZ03 | Prkd2 | Serine/threonine-protein kinase D2 | Mus musculus (Mouse) | SS |
Q9WTQ1 | Prkd1 | Serine/threonine-protein kinase D1 | Rattus norvegicus (Rat) | SS |
Q5XIS9 | Prkd2 | Serine/threonine-protein kinase D2 | Rattus norvegicus (Rat) | SS |
O45818 | dkf-2 | Serine/threonine-protein kinase dkf-2 | Caenorhabditis elegans | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MATAPSYPAG | LPGSPGPGSP | PPPGGLELQS | PPPLLPQIPA | PGSGVSFHIQ | IGLTREFVLL |
70 | 80 | 90 | 100 | 110 | 120 |
PAASELAHVK | QLACSIVDQK | FPECGFYGLY | DKILLFKHDP | TSANLLQLVR | SSGDIQEGDL |
130 | 140 | 150 | 160 | 170 | 180 |
VEVVLSASAT | FEDFQIRPHA | LTVHSYRAPA | FCDHCGEMLF | GLVRQGLKCD | GCGLNYHKRC |
190 | 200 | 210 | 220 | 230 | 240 |
AFSIPNNCSG | ARKRRLSSTS | LASGHSVRLG | TSESLPCTAE | ELSRSTTELL | PRRPPSSSSS |
250 | 260 | 270 | 280 | 290 | 300 |
SSASSYTGRP | IELDKMLLSK | VKVPHTFLIH | SYTRPTVCQA | CKKLLKGLFR | QGLQCKDCKF |
310 | 320 | 330 | 340 | 350 | 360 |
NCHKRCATRV | PNDCLGEALI | NGDVPMEEAT | DFSEADKSAL | MDESEDSGVI | PGSHSENALH |
370 | 380 | 390 | 400 | 410 | 420 |
ASEEEEGEGG | KAQSSLGYIP | LMRVVQSVRH | TTRKSSTTLR | EGWVVHYSNK | DTLRKRHYWR |
430 | 440 | 450 | 460 | 470 | 480 |
LDCKCITLFQ | NNTTNRYYKE | IPLSEILTVE | SAQNFSLVPP | GTNPHCFEIV | TANATYFVGE |
490 | 500 | 510 | 520 | 530 | 540 |
MPGGTPGGPS | GQGAEAARGW | ETAIRQALMP | VILQDAPSAP | GHAPHRQASL | SISVSNSQIQ |
550 | 560 | 570 | 580 | 590 | 600 |
ENVDIATVYQ | IFPDEVLGSG | QFGVVYGGKH | RKTGRDVAVK | VIDKLRFPTK | QESQLRNEVA |
610 | 620 | 630 | 640 | 650 | 660 |
ILQSLRHPGI | VNLECMFETP | EKVFVVMEKL | HGDMLEMILS | SEKGRLPERL | TKFLITQILV |
670 | 680 | 690 | 700 | 710 | 720 |
ALRHLHFKNI | VHCDLKPENV | LLASADPFPQ | VKLCDFGFAR | IIGEKSFRRS | VVGTPAYLAP |
730 | 740 | 750 | 760 | 770 | 780 |
EVLLNQGYNR | SLDMWSVGVI | MYVSLSGTFP | FNEDEDINDQ | IQNAAFMYPA | SPWSHISAGA |
790 | 800 | 810 | 820 | 830 | 840 |
IDLINNLLQV | KMRKRYSVDK | SLSHPWLQEY | QTWLDLRELE | GKMGERYITH | ESDDARWEQF |
850 | 860 | 870 | |||
AAEHPLPGSG | LPTDRDLGGA | CPPQDHDMQG | LAERISVL |