P35626
PR
Gene name |
GRK3 |
Protein name |
Beta-adrenergic receptor kinase 2 |
Names |
Beta-ARK-2, G-protein-coupled receptor kinase 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:157 |
EC number |
2.7.11.15: Protein-serine/threonine kinases |
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
334-355 (Activation loop from InterPro)
Target domain |
191-453 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
1 structures for P35626
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P35626-F1 | Predicted | AlphaFoldDB |
421 variants for P35626
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1425443629 CA411064312 |
2 | A>T | No |
ClinGen TOPMed |
|
|
rs1282427246 CA411064328 |
4 | L>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 6 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1601437435 CA411064347 |
7 | V>L | No |
ClinGen Ensembl |
|
|
rs1284812343 CA411064362 |
10 | D>N | No |
ClinGen gnomAD |
|
|
CA411064375 rs1487117062 |
11 | V>A | No |
ClinGen gnomAD |
|
|
CA411064377 rs1473111417 |
12 | S>G | No |
ClinGen TOPMed |
|
|
CA411064385 rs1234912779 |
13 | Y>H | No |
ClinGen TOPMed |
|
|
CA411064392 rs770531658 |
14 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1256248742 CA411064414 |
17 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1256248742 CA411064413 |
17 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs776202102 CA10158818 |
19 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA10158819 rs759106558 |
19 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA10158820 rs769665012 |
22 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs148980262 CA322423842 |
22 | A>V | No |
ClinGen ESP gnomAD |
|
|
CA411064459 rs1451918641 |
23 | T>I | No |
ClinGen gnomAD |
|
|
rs775414488 CA10158821 |
23 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA411064465 rs1304595283 |
24 | P>L | No |
ClinGen gnomAD |
|
|
rs1395572217 CA411064471 |
25 | A>V | No |
ClinGen gnomAD |
|
|
CA411064472 rs1379060239 |
26 | A>T | No |
ClinGen gnomAD |
|
|
rs1308276259 CA411064478 |
27 | R>S | No |
ClinGen gnomAD |
|
|
rs1314694248 CA411064484 |
28 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA411064494 rs1335828257 |
29 | S>I | No |
ClinGen gnomAD |
|
|
CA10158825 rs760916929 |
31 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374003306 CA10158826 |
31 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1601437549 CA411064516 |
32 | I>S | No |
ClinGen Ensembl |
|
|
CA411064519 rs1343648763 |
33 | V>L | No |
ClinGen gnomAD |
|
|
CA10158827 rs753951963 |
35 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1459497611 CA411064544 |
37 | P>S | No |
ClinGen gnomAD |
|
|
rs780785785 CA10158852 |
40 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147063201 CA10158853 |
41 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411064847 rs1224160903 |
43 | M>T | No |
ClinGen gnomAD |
|
|
CA10158856 rs373425383 |
47 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10158857 rs768622269 |
48 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs55700971 CA322463089 VAR_040380 |
50 | R>S | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA10158858 rs774167105 |
52 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 53 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747909675 CA10158859 |
53 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA322463090 rs1000738501 |
54 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA411064924 rs1000738501 |
54 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs577220617 CA10158861 |
56 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1349088921 CA411064946 |
57 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 58 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 59 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411064961 rs1422581674 |
59 | F>S | No |
ClinGen gnomAD |
|
|
CA322463091 VAR_040381 rs55740593 |
60 | N>S | No |
ClinGen UniProt Ensembl dbSNP |
|
| TCGA novel | 68 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411066507 rs1223429512 |
70 | D>N | No |
ClinGen gnomAD |
|
|
CA411066518 rs1296867594 |
71 | F>Y | No |
ClinGen TOPMed |
|
|
CA411066534 rs1229074141 |
73 | L>S | No |
ClinGen TOPMed |
|
|
CA411066546 rs1367214864 |
75 | E>K | No |
ClinGen TOPMed |
|
|
rs1323683589 CA411066577 |
79 | A>T | No |
ClinGen TOPMed |
|
|
CA322478798 rs908652985 |
80 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA411066595 rs1413361482 |
82 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs373857307 CA10158884 |
83 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1180200497 CA411066608 |
84 | K>E | No |
ClinGen gnomAD |
|
|
rs1460086394 CA411066628 |
86 | Y>F | No |
ClinGen TOPMed |
|
|
CA411066651 rs1156425001 |
88 | E>V | No |
ClinGen gnomAD |
|
|
CA10158898 rs752318502 |
89 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374566498 CA10158900 |
92 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 93 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 93 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411064621 rs1426587283 |
96 | D>G | No |
ClinGen gnomAD |
|
|
rs142351304 CA10158901 |
96 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142351304 CA411064619 |
96 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411064628 rs1569183689 |
97 | N>I | No |
ClinGen Ensembl |
|
|
rs951621163 CA322484316 |
98 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 98 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780277919 CA10158903 |
100 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs982998690 CA411064656 |
101 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs982998690 CA322484320 |
101 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs146313233 CA10158905 |
101 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs146313233 CA10158904 |
101 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10158907 rs375657705 |
102 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA411064662 rs1441301192 |
102 | L>R | No |
ClinGen TOPMed |
|
| VAR_040382 | 104 | R>K | a lung bronchoalveolar carcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA411064680 rs1333897972 |
105 | S>C | No |
ClinGen TOPMed |
|
|
rs775857408 CA322484333 |
106 | R>* | No |
ClinGen TOPMed |
|
|
rs775857408 CA411064686 |
106 | R>G | No |
ClinGen TOPMed |
|
|
rs148293038 CA10158908 |
106 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411064737 rs1486251643 |
113 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA411064746 rs1437445704 |
114 | M>R | No |
ClinGen gnomAD |
|
|
CA10158909 rs561581394 |
116 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10158910 rs561581394 |
116 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs936363388 CA322484347 |
117 | L>F | No |
ClinGen gnomAD |
|
|
rs1569183742 CA411064770 |
117 | L>P | No |
ClinGen Ensembl |
|
|
CA411064789 rs1338688970 |
120 | C>* | No |
ClinGen gnomAD |
|
|
rs1421755652 CA411064796 |
121 | S>L | No |
ClinGen TOPMed |
|
|
rs1193802210 CA411064801 |
122 | H>R | No |
ClinGen gnomAD |
|
|
rs779212609 CA10158924 |
127 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA411065055 rs1325719239 |
129 | V>A | No |
ClinGen gnomAD |
|
|
rs1387786513 CA411065077 |
132 | V>A | No |
ClinGen TOPMed |
|
|
rs1285945028 CA411065090 |
134 | S>N | No |
ClinGen gnomAD |
|
|
CA411065103 rs1356765288 |
136 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 139 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1245029953 CA411065145 |
141 | V>G | No |
ClinGen gnomAD |
|
|
rs1156900366 CA411065140 |
141 | V>M | No |
ClinGen TOPMed |
|
|
CA10158927 rs773661356 |
144 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1216613179 CA411065160 |
144 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA411065202 rs1239579654 |
148 | P>L | No |
ClinGen gnomAD |
|
|
CA411065213 rs1183300142 |
150 | I>L | No |
ClinGen gnomAD |
|
|
rs747149961 CA10158949 |
150 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777799414 CA411065215 |
150 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777799414 CA10158948 |
150 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 151 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1363483480 CA411065251 |
155 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 156 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10158951 rs200930672 |
158 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1032804 rs746176727 CA10158952 |
158 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1406660843 CA411065287 |
161 | I>V | No |
ClinGen gnomAD |
|
|
rs1158888637 CA411065301 |
163 | Q>K | No |
ClinGen TOPMed |
|
|
rs770215309 CA10158953 |
163 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs141379628 CA10158954 |
164 | K>T | No |
ClinGen ESP ExAC TOPMed |
|
|
rs762659935 CA10158955 |
165 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs768486618 CA10158956 |
167 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA322487170 rs910967510 |
168 | S>R | No |
ClinGen Ensembl |
|
|
rs867447127 CA322489021 |
169 | D>E | No |
ClinGen Ensembl |
|
|
CA322489027 rs889279149 |
170 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 170 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 173 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411065388 rs1344296934 |
173 | R>K | No |
ClinGen gnomAD |
|
|
CA10158973 rs780557371 |
174 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA411065403 rs1281889067 |
175 | C>Y | No |
ClinGen gnomAD |
|
|
rs1309808580 CA411065429 |
178 | K>R | No |
ClinGen gnomAD |
|
|
CA10158975 rs73167000 |
180 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1019085021 CA322489045 |
185 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1211832459 CA411065479 |
185 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA411065515 rs1259623471 |
188 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA411065510 rs1158870640 |
188 | M>V | No |
ClinGen gnomAD |
|
|
CA411065530 rs1425295405 |
190 | E>G | No |
ClinGen gnomAD |
|
|
rs780724604 CA10158990 |
191 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA10158991 rs374198066 |
192 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411065573 rs1468702535 |
196 | I>T | No |
ClinGen TOPMed |
|
|
rs778662378 CA10158993 |
197 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs747815978 CA10158994 |
199 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs747815978 CA411065591 |
199 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1601518025 CA411065592 |
200 | G>R | No |
ClinGen Ensembl |
|
|
rs1384930804 CA411065597 |
200 | G>V | No |
ClinGen gnomAD |
|
|
rs772775988 CA10158996 |
203 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA322490397 rs1037330019 |
208 | C>F | No |
ClinGen TOPMed |
|
|
CA322490414 rs894848001 |
210 | K>T | No |
ClinGen TOPMed |
|
|
rs776580964 CA10158999 |
212 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA411065717 rs1468666089 |
216 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 217 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773341448 CA10159022 |
221 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs957083772 CA322493596 |
223 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 225 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411065788 rs1480506696 |
226 | R>G | No |
ClinGen gnomAD |
|
|
rs1177746420 CA411065806 |
228 | K>R | No |
ClinGen gnomAD |
|
|
CA322493602 rs1023113606 |
231 | Q>E | No |
ClinGen Ensembl |
|
|
rs1406035476 CA411065835 |
232 | G>R | No |
ClinGen gnomAD |
|
|
CA411065841 rs986318413 |
233 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs986318413 CA322493611 |
233 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1331310362 CA411065864 |
236 | A>V | No |
ClinGen gnomAD |
|
|
CA10159023 rs760791450 |
238 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA10159026 rs766547650 |
242 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10159024 rs1555926397 |
242 | M>V | No |
ClinGen Ensembl |
|
| TCGA novel | 244 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1236677742 CA411065982 |
252 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 254 | I>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10159046 rs776838010 |
256 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA322497734 rs933041660 |
260 | A>S | No |
ClinGen gnomAD |
|
|
CA411066039 rs933041660 |
260 | A>T | No |
ClinGen gnomAD |
|
|
rs1050113682 CA322497738 |
263 | T>A | No |
ClinGen Ensembl |
|
|
rs555094004 CA10159048 |
266 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1569194285 CA411066093 |
268 | C>R | No |
ClinGen Ensembl |
|
|
rs763563598 CA10159050 |
270 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs751985040 CA10159052 |
276 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs748016202 CA10159062 |
278 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411066221 rs1569195572 |
284 | S>L | No |
ClinGen Ensembl |
|
|
CA10159064 rs776999337 |
285 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs759640133 CA10159065 |
286 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775678414 CA10159067 |
287 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771333945 CA10159068 |
288 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771333945 CA411066241 |
288 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1245353692 CA411066276 |
293 | E>K | No |
ClinGen gnomAD |
|
|
rs1245353692 CA411066277 |
293 | E>Q | No |
ClinGen gnomAD |
|
|
rs751862197 CA411066285 |
294 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA10159070 rs751862197 |
294 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA10159072 rs200351696 |
295 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1032812 CA10159071 rs200558027 |
295 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10159073 rs750102479 |
296 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1384082597 CA411066307 |
297 | Y>F | No |
ClinGen gnomAD |
|
|
rs1384082597 CA411066305 |
297 | Y>S | No |
ClinGen gnomAD |
|
|
CA10159075 rs765777611 |
304 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 306 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142509662 CA10159076 |
306 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1294213562 CA411066368 |
307 | H>D | No |
ClinGen TOPMed |
|
|
CA10159080 rs747886645 |
307 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10159078 rs779007758 |
307 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA322499999 rs1044803 |
308 | M>V | No |
ClinGen gnomAD |
|
|
rs1348010604 CA411066395 |
310 | N>K | No |
ClinGen gnomAD |
|
|
CA10159083 rs145971750 |
311 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs964177724 CA322500016 |
314 | V>A | No |
ClinGen Ensembl |
|
|
rs775415689 CA10159084 |
315 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1307942332 CA411066668 |
321 | A>V | No |
ClinGen TOPMed |
|
|
CA322502369 rs909804334 |
322 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA411066695 rs1358631344 |
325 | L>W | No |
ClinGen TOPMed |
|
|
rs372788395 CA10159105 |
326 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10159104 rs768742300 |
326 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA10159106 rs748626073 |
328 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA322502403 rs1032121226 |
328 | H>R | No |
ClinGen Ensembl |
|
|
CA10159108 rs773556791 |
331 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM183706 rs773556791 CA10159109 |
331 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA411066744 rs1310177016 |
333 | I>V | No |
ClinGen TOPMed |
|
|
CA411066755 rs1368350089 |
334 | S>L | No |
ClinGen gnomAD |
|
|
rs770425593 CA10159110 |
335 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA10159111 rs776379149 |
340 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA411066818 rs1354464729 |
344 | K>* | No |
ClinGen TOPMed |
|
|
rs1055901517 CA322502485 |
347 | P>R | No |
ClinGen TOPMed |
|
|
CA10159112 rs759158731 |
349 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759158731 CA10159113 |
349 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 350 | S>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762970367 CA10159115 |
350 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1356549800 CA411066859 |
350 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs762970367 CA411066857 |
350 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA10159116 rs764137519 |
351 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1384247115 CA411066916 |
357 | M>V | No |
ClinGen gnomAD |
|
|
rs1569199400 CA411066926 |
358 | A>D | No |
ClinGen Ensembl |
|
|
CA10159136 rs767315672 |
359 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 360 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1347399666 CA411066934 |
360 | E>K | No |
ClinGen gnomAD |
|
|
rs1454761743 CA411066955 |
363 | Q>K | No |
ClinGen gnomAD |
|
|
CA322506407 rs953906647 |
365 | G>R | No |
ClinGen Ensembl |
|
|
CA10159138 rs755184733 |
366 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs113703300 CA322506424 |
368 | Y>C | No |
ClinGen Ensembl |
|
|
rs1258181498 CA411066986 |
368 | Y>H | No |
ClinGen gnomAD |
|
|
CA411067022 rs1365583794 |
373 | D>N | No |
ClinGen TOPMed |
|
|
rs778095031 CA10159142 |
380 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs747518028 CA10159143 |
381 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA411067103 rs1207996538 |
384 | L>F | No |
ClinGen gnomAD |
|
|
CA10159144 rs771406578 |
385 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA411067110 rs771406578 |
385 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1037109087 CA322506483 |
387 | G>D | No |
ClinGen Ensembl |
|
|
rs1490381903 CA411067199 |
394 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 398 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411067273 rs1477220713 |
404 | R>* | No |
ClinGen gnomAD |
|
|
rs748915481 CA10159166 |
405 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 406 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 407 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146193399 CA322514234 |
407 | L>V | No |
ClinGen ESP TOPMed |
|
|
CA411067299 rs1167017447 |
408 | T>I | No |
ClinGen gnomAD |
|
|
CA10159169 VAR_028005 rs2272859 |
409 | V>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs142484156 CA10159187 |
410 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411067329 rs1383075446 |
411 | V>G | No |
ClinGen gnomAD |
|
|
CA411067326 rs1316665820 COSM444797 |
411 | V>M | Variant assessed as Somatic; 4.624e-05 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs144292845 CA10159189 |
413 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10159190 rs770911641 |
413 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1220920517 CA411067354 |
415 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 415 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411067360 rs1225941193 |
416 | T>A | No |
ClinGen gnomAD |
|
|
CA10159193 rs768882010 |
417 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs759253266 CA10159192 |
417 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA411067378 rs1245137545 |
419 | P>S | No |
ClinGen gnomAD |
|
|
CA411067408 rs1443202208 |
423 | S>F | No |
ClinGen gnomAD |
|
|
rs1187189645 CA411067418 |
425 | L>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1366764615 CA411067428 |
426 | E>D | No |
ClinGen gnomAD |
|
|
CA411067451 rs1471227283 |
430 | Q>* | No |
ClinGen gnomAD |
|
|
COSM140297 CA10159194 rs774455287 |
431 | R>Q | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 433 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10159196 COSM1032822 rs767670960 |
433 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs750595607 CA10159197 |
434 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs761252284 CA10159198 |
434 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs151314086 CA322515027 |
435 | K>R | No |
ClinGen ESP |
|
|
CA411067488 rs1293497789 |
436 | R>Q | No |
ClinGen TOPMed |
|
|
CA10159199 rs767010348 COSM69566 |
436 | R>W | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs200199764 CA10159201 |
441 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs778579878 | 442 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1601539350 CA411067524 |
442 | G>R | No |
ClinGen Ensembl |
|
|
CA10159203 rs752270657 |
443 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749058140 CA10159219 |
444 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375518916 CA322519570 |
445 | Q>R | No |
ClinGen ESP TOPMed |
|
|
rs1241705421 CA411067600 |
446 | E>V | No |
ClinGen TOPMed |
|
|
CA322519587 rs965266486 |
447 | V>I | No |
ClinGen gnomAD |
|
|
rs753174693 CA10159220 |
451 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1438942909 CA411067710 |
455 | G>C | No |
ClinGen TOPMed |
|
|
CA10159221 rs201388100 |
455 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 457 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10159222 rs777405800 |
457 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10159223 rs751028149 |
458 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs756781072 CA10159224 |
460 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780726038 CA10159225 |
461 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs745757624 CA10159226 |
462 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs952169198 CA322519639 |
463 | L>F | No |
ClinGen Ensembl |
|
|
CA411067966 rs1182153848 |
467 | P>L | No |
ClinGen gnomAD |
|
|
rs1388478965 CA411067965 |
467 | P>S | No |
ClinGen TOPMed |
|
|
rs1421592231 CA411067984 |
468 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs763499651 CA10159255 |
468 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163228470 CA411067999 |
469 | P>L | No |
ClinGen gnomAD |
|
|
CA411068003 rs1430849936 |
470 | L>V | No |
ClinGen TOPMed |
|
|
rs139363888 CA10159256 |
470 | L>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs907383850 CA411068042 |
473 | P>L | No |
ClinGen gnomAD |
|
|
rs907383850 CA322520592 |
473 | P>R | No |
ClinGen gnomAD |
|
|
CA10159259 rs761438308 |
474 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA10159258 rs761438308 |
474 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs774760103 CA10159257 |
474 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 476 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10159261 rs755683871 |
477 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200932412 CA10159262 |
478 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs560899399 CA10159263 |
480 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA411068135 rs1290061174 |
482 | A>T | No |
ClinGen gnomAD |
|
|
rs1329788767 CA411068159 |
484 | D>V | No |
ClinGen gnomAD |
|
|
rs778848265 CA10159265 |
487 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10159268 rs781506184 |
488 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA10159269 rs531356327 |
491 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10159270 rs769894689 |
492 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA322739646 rs936734167 |
499 | L>F | No |
ClinGen Ensembl |
|
|
CA322739669 rs1053809653 |
502 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10159285 rs758233679 COSM1660432 |
503 | Q>R | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA10159287 rs750627750 |
505 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs756353711 CA10159288 |
506 | Y>H | No |
ClinGen ExAC |
|
|
CA410993133 rs1165160527 |
509 | F>L | No |
ClinGen gnomAD |
|
|
rs769083475 CA10159291 |
513 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10159292 rs145518376 |
516 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 518 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748414130 CA10159293 |
522 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410993232 rs1274027195 |
523 | E>G | No |
ClinGen gnomAD |
|
|
rs1330344635 CA410993228 |
523 | E>K | No |
ClinGen gnomAD |
|
|
CA10159295 rs773490339 |
530 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs760374401 CA10159296 |
532 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs770550412 CA10159297 |
533 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA10159298 rs776225967 |
534 | D>A | No |
ClinGen ExAC |
|
|
rs1157718002 CA410993302 |
534 | D>H | No |
ClinGen TOPMed |
|
|
CA10159301 rs749032008 |
537 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 541 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1004136934 CA322739730 |
549 | H>N | No |
ClinGen TOPMed |
|
|
rs1453859958 CA410993411 |
549 | H>R | No |
ClinGen TOPMed |
|
|
COSM1032828 CA10159303 rs146517167 |
550 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1406397497 CA410994192 |
554 | A>D | No |
ClinGen TOPMed |
|
|
CA410994190 rs919035064 |
554 | A>P | No |
ClinGen gnomAD |
|
|
rs919035064 CA322742683 |
554 | A>T | No |
ClinGen gnomAD |
|
|
CA410994193 rs1406397497 |
554 | A>V | No |
ClinGen TOPMed |
|
|
rs775202808 CA10159318 |
558 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1464402512 CA410994224 |
559 | C>Y | No |
ClinGen TOPMed |
|
|
rs762933499 CA10159319 |
560 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10159320 rs549236003 |
561 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1024152544 CA322742704 |
562 | H>L | No |
ClinGen TOPMed |
|
|
CA410994243 rs1458566530 |
562 | H>N | No |
ClinGen gnomAD |
|
|
CA322742706 rs1056854563 |
563 | G>R | No |
ClinGen Ensembl |
|
|
rs752212624 CA322742713 |
564 | Y>H | No |
ClinGen Ensembl |
|
|
rs200945813 CA10159322 |
565 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410994264 rs1486191959 |
565 | M>V | No |
ClinGen gnomAD |
|
|
rs1335831340 CA410994274 |
566 | L>R | No |
ClinGen gnomAD |
|
|
CA410994278 rs1340492026 |
567 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1568941898 CA410994288 |
569 | G>R | No |
ClinGen Ensembl |
|
|
CA10159324 rs148927409 COSM726101 |
575 | Q>* | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC |
|
CA410994330 rs1193421713 |
575 | Q>R | No |
ClinGen gnomAD |
|
|
CA410994337 rs1284052132 |
576 | W>* | No |
ClinGen gnomAD |
|
|
rs1445430631 CA410994341 |
576 | W>C | No |
ClinGen TOPMed |
|
|
rs1333352191 CA410994353 |
578 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs755234043 CA10159325 |
579 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 586 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10159327 rs752781761 |
588 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA410994447 rs1372103381 |
591 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA322742767 rs1045020822 |
593 | E>Q | No |
ClinGen Ensembl |
|
|
CA10159329 rs778150311 |
594 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10159330 rs747361233 |
596 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199620908 CA10159331 |
597 | R>Q | Variant assessed as Somatic; 0.000185 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1443013222 CA410994484 |
597 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs757901670 CA10159349 |
598 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA410994831 rs1251025589 |
600 | L>S | No |
ClinGen gnomAD |
|
|
rs1601551818 CA410994850 |
602 | T>A | No |
ClinGen Ensembl |
|
|
CA410994866 rs1417014904 |
603 | M>T | No |
ClinGen gnomAD |
|
|
CA10159350 rs781676424 |
606 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10159352 rs373371487 |
607 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10159351 rs373371487 |
607 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1247896621 CA410994979 |
611 | E>D | No |
ClinGen TOPMed |
|
|
rs143603317 CA10159355 |
613 | Q>K | No |
ClinGen ESP ExAC TOPMed |
|
|
CA10159356 rs768031846 |
613 | Q>R | No |
ClinGen ExAC gnomAD |
|
| rs1371816265 | 618 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 619 | C>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10159357 rs778527018 |
620 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10159358 rs748074430 |
624 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA10159359 rs772056102 |
625 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs867249558 CA322744660 |
627 | G>V | No |
ClinGen Ensembl |
|
| TCGA novel | 635 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410995214 rs1601552501 |
636 | S>R | No |
ClinGen Ensembl |
|
|
CA10159377 rs747675608 |
640 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374912168 CA10159378 |
641 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1568943646 CA410995252 |
642 | Q>* | No |
ClinGen Ensembl |
|
|
rs878899855 CA322745206 |
642 | Q>H | No |
ClinGen Ensembl |
|
|
rs879117164 CA322745199 |
642 | Q>P | No |
ClinGen Ensembl |
|
|
CA322745216 rs551524211 |
644 | K>N | No |
ClinGen 1000Genomes gnomAD |
|
|
CA322745270 rs922081762 COSM1415313 |
649 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs932052301 CA322745290 COSM1415314 |
654 | A>V | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA10159385 rs142576217 |
656 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10159383 rs368301810 |
656 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768086278 CA10159387 |
659 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773831485 CA10159388 |
659 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA322745342 rs1005491210 |
660 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs144810352 CA10159389 |
660 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs144810352 CA10159390 |
660 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1369550787 CA410995386 |
662 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1163207600 CA410995398 |
664 | F>Y | No |
ClinGen gnomAD |
|
|
CA10159393 rs764950310 |
666 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359908259 CA410995423 |
667 | K>N | No |
ClinGen gnomAD |
|
|
rs752167374 CA10159394 |
668 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1397865411 CA410995425 |
668 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs200525151 CA10159396 |
669 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200525151 CA10159397 |
669 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1269755776 CA410995435 |
670 | S>L | No |
ClinGen gnomAD |
|
|
rs931073469 CA322745383 |
671 | G>R | No |
ClinGen TOPMed |
|
|
CA10159398 rs141685054 |
671 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 673 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410995456 rs1483906015 |
674 | E>A | No |
ClinGen gnomAD |
|
|
CA10159399 rs780788559 |
674 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA410995466 rs1236104848 |
675 | L>R | No |
ClinGen TOPMed |
|
|
CA10159400 rs745676340 |
676 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA322745423 rs1035261983 |
677 | K>N | No |
ClinGen gnomAD |
|
|
CA410995485 rs1186472381 |
679 | S>T | No |
ClinGen gnomAD |
|
|
CA410995492 rs537834858 |
680 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA410995495 rs1458125584 |
680 | L>H | No |
ClinGen gnomAD |
|
|
rs537834858 CA10159402 |
680 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA322745429 rs369952589 |
681 | C>Y | No |
ClinGen ESP TOPMed |
|
|
rs372369619 CA10159403 |
684 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA410995522 rs1343667341 |
684 | N>S | No |
ClinGen gnomAD |
|
|
rs200523866 CA10159406 |
687 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs375758893 CA322745433 |
687 | G>S | No |
ClinGen ESP gnomAD |
|
|
rs200523866 CA10159405 |
687 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1308044712 CA410995546 |
688 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 688 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with P35626
No regional properties for P35626
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P35626 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.15 | 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 |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| cell projection | A prolongation or process extending from a cell, e.g. a flagellum or axon. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| postsynapse | The part of a synapse that is part of the post-synaptic cell. |
| presynapse | The part of a synapse that is part of the presynaptic cell. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| beta-adrenergic receptor kinase activity | Catalysis of the reaction: ATP + beta-adrenergic receptor = ADP + phospho-beta-adrenergic receptor. |
| G protein-coupled receptor binding | Binding to a G protein-coupled receptor. |
| G protein-coupled receptor kinase activity | Catalysis of the reaction: ATP + G protein-coupled receptor = ADP + G protein-coupled receptor phosphate. |
| 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. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| desensitization of G protein-coupled receptor signaling pathway | The process that stops, prevents, or reduces the frequency, rate or extent of G protein-coupled receptor signaling pathway after prolonged stimulation with an agonist of the pathway. |
| G protein-coupled receptor signaling pathway | The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| receptor internalization | A receptor-mediated endocytosis process that results in the movement of receptors from the plasma membrane to the inside of the cell. The process begins when cell surface receptors are monoubiquitinated following ligand-induced activation. Receptors are subsequently taken up into endocytic vesicles from where they are either targeted to the lysosome or vacuole for degradation or recycled back to the plasma membrane. |
| regulation of signal transduction | Any process that modulates the frequency, rate or extent of signal transduction. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
21 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P43249 | GRK5 | G protein-coupled receptor kinase 5 | Bos taurus (Bovine) | SS |
| P21146 | GRK2 | Beta-adrenergic receptor kinase 1 | Bos taurus (Bovine) | PR |
| P26818 | GRK3 | Beta-adrenergic receptor kinase 2 | Bos taurus (Bovine) | PR |
| P32865 | Gprk1 | G protein-coupled receptor kinase 1 | Drosophila melanogaster (Fruit fly) | PR |
| P25098 | GRK2 | Beta-adrenergic receptor kinase 1 | Homo sapiens (Human) | PR |
| P34947 | GRK5 | G protein-coupled receptor kinase 5 | Homo sapiens (Human) | EV |
| Q15835 | GRK1 | Rhodopsin kinase GRK1 | Homo sapiens (Human) | PR |
| Q96LW2 | RSKR | Ribosomal protein S6 kinase-related protein | Homo sapiens (Human) | PR |
| P32298 | GRK4 | G protein-coupled receptor kinase 4 | Homo sapiens (Human) | SS |
| P43250 | GRK6 | G protein-coupled receptor kinase 6 | Homo sapiens (Human) | EV |
| O70293 | Grk6 | G protein-coupled receptor kinase 6 | Mus musculus (Mouse) | SS |
| Q8VEB1 | Grk5 | G protein-coupled receptor kinase 5 | Mus musculus (Mouse) | SS |
| Q99MK8 | Grk2 | Beta-adrenergic receptor kinase 1 | Mus musculus (Mouse) | PR |
| Q9WVL4 | Grk1 | Rhodopsin kinase GRK1 | Mus musculus (Mouse) | PR |
| Q3UYH7 | Adrbk2 | Beta-adrenergic receptor kinase 2 | Mus musculus (Mouse) | PR |
| Q62833 | Grk5 | G protein-coupled receptor kinase 5 | Rattus norvegicus (Rat) | SS |
| P26817 | Grk2 | Beta-adrenergic receptor kinase 1 | Rattus norvegicus (Rat) | PR |
| P97711 | Grk6 | G protein-coupled receptor kinase 6 | Rattus norvegicus (Rat) | SS |
| P26819 | Grk3 | Beta-adrenergic receptor kinase 2 | Rattus norvegicus (Rat) | PR |
| Q09639 | grk-2 | G protein-coupled receptor kinase 2 | Caenorhabditis elegans | PR |
| O48963 | PHOT1 | Phototropin-1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MADLEAVLAD | VSYLMAMEKS | KATPAARASK | RIVLPEPSIR | SVMQKYLAER | NEITFDKIFN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QKIGFLLFKD | FCLNEINEAV | PQVKFYEEIK | EYEKLDNEED | RLCRSRQIYD | AYIMKELLSC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SHPFSKQAVE | HVQSHLSKKQ | VTSTLFQPYI | EEICESLRGD | IFQKFMESDK | FTRFCQWKNV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ELNIHLTMNE | FSVHRIIGRG | GFGEVYGCRK | ADTGKMYAMK | CLDKKRIKMK | QGETLALNER |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IMLSLVSTGD | CPFIVCMTYA | FHTPDKLCFI | LDLMNGGDLH | YHLSQHGVFS | EKEMRFYATE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IILGLEHMHN | RFVVYRDLKP | ANILLDEHGH | ARISDLGLAC | DFSKKKPHAS | VGTHGYMAPE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VLQKGTAYDS | SADWFSLGCM | LFKLLRGHSP | FRQHKTKDKH | EIDRMTLTVN | VELPDTFSPE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LKSLLEGLLQ | RDVSKRLGCH | GGGSQEVKEH | SFFKGVDWQH | VYLQKYPPPL | IPPRGEVNAA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DAFDIGSFDE | EDTKGIKLLD | CDQELYKNFP | LVISERWQQE | VTETVYEAVN | ADTDKIEARK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RAKNKQLGHE | EDYALGKDCI | MHGYMLKLGN | PFLTQWQRRY | FYLFPNRLEW | RGEGESRQNL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LTMEQILSVE | ETQIKDKKCI | LFRIKGGKQF | VLQCESDPEF | VQWKKELNET | FKEAQRLLRR |
| 670 | 680 | ||||
| APKFLNKPRS | GTVELPKPSL | CHRNSNGL |