P25098
Gene name |
GRK2 |
Protein name |
Beta-adrenergic receptor kinase 1 |
Names |
Beta-ARK-1, G-protein coupled receptor kinase 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:156 |
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

21 structures for P25098
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
1BAK | NMR | - | A | 556-670 | PDB |
3CIK | X-ray | 275 A | A | 1-689 | PDB |
3KRW | X-ray | 290 A | A | 2-689 | PDB |
3KRX | X-ray | 310 A | A | 2-689 | PDB |
3V5W | X-ray | 207 A | A | 1-689 | PDB |
4MK0 | X-ray | 240 A | A | 30-668 | PDB |
4PNK | X-ray | 256 A | A | 1-689 | PDB |
5HE1 | X-ray | 315 A | A | 29-670 | PDB |
5UKK | X-ray | 260 A | A | 30-671 | PDB |
5UKL | X-ray | 215 A | A | 30-671 | PDB |
5UUU | X-ray | 270 A | A | 23-538 | PDB |
5UVC | X-ray | 265 A | A | 23-538 | PDB |
5WG3 | X-ray | 290 A | A | 1-689 | PDB |
5WG4 | X-ray | 231 A | A | 1-689 | PDB |
5WG5 | X-ray | 310 A | A | 1-689 | PDB |
6C2Y | X-ray | 274 A | A | 1-689 | PDB |
6U7C | X-ray | 244 A | A | 1-689 | PDB |
7K7L | X-ray | 254 A | A | 30-668 | PDB |
7K7Z | X-ray | 261 A | A | 30-668 | PDB |
7PWD | X-ray | 260 A | A | 1-689 | PDB |
AF-P25098-F1 | Predicted | AlphaFoldDB |
464 variants for P25098
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA6133819 rs778566509 |
5 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs1267341728 CA381525451 |
6 | A>V | No |
ClinGen TOPMed |
|
CA224128083 rs867482919 |
8 | L>P | No |
ClinGen Ensembl |
|
rs1170445155 CA381525507 |
11 | V>L | No |
ClinGen gnomAD |
|
CA381525523 rs1417063134 |
12 | S>I | No |
ClinGen gnomAD |
|
CA381525641 rs1223563312 |
21 | K>T | No |
ClinGen TOPMed |
|
CA224128095 rs868320916 |
22 | A>D | No |
ClinGen Ensembl |
|
rs1323939721 CA381525649 |
22 | A>T | No |
ClinGen gnomAD |
|
CA381525665 rs1233371776 |
23 | T>R | No |
ClinGen gnomAD |
|
rs1436404023 CA381525678 |
24 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs1436404023 CA381525677 |
24 | P>R | No |
ClinGen TOPMed gnomAD |
|
rs1337784962 CA381525685 |
25 | A>S | No |
ClinGen gnomAD |
|
CA381525681 rs1337784962 |
25 | A>T | No |
ClinGen gnomAD |
|
rs1565434525 CA381525691 |
25 | A>V | No |
ClinGen Ensembl |
|
CA381525694 rs1291105914 |
26 | A>T | No |
ClinGen gnomAD |
|
CA381525700 rs1336459275 |
26 | A>V | No |
ClinGen gnomAD |
|
CA381525706 rs1251787046 |
27 | R>C | No |
ClinGen gnomAD |
|
rs1251787046 CA381525703 |
27 | R>S | No |
ClinGen gnomAD |
|
rs1195166103 CA381525718 |
28 | A>D | No |
ClinGen TOPMed gnomAD |
|
rs910121977 CA224128098 |
28 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs910121977 CA381525713 |
28 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs1195166103 CA381525722 |
28 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA381525726 rs1475081359 |
29 | S>G | No |
ClinGen gnomAD |
|
rs1163600857 CA381525730 |
29 | S>N | No |
ClinGen TOPMed gnomAD |
|
CA381525735 rs1415744110 |
29 | S>R | No |
ClinGen gnomAD |
|
CA6133826 rs746094488 COSM3980606 |
30 | K>R | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1393761312 CA381525782 |
33 | L>M | No |
ClinGen gnomAD |
|
rs775578042 CA381525791 |
34 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381525796 rs1325182225 |
34 | L>P | No |
ClinGen gnomAD |
|
rs1357789704 CA381525811 |
35 | P>L | No |
ClinGen gnomAD |
|
CA381525805 rs1285119222 |
35 | P>S | No |
ClinGen gnomAD |
|
rs1272161822 CA381525816 |
36 | E>K | No |
ClinGen gnomAD |
|
rs1281584972 CA381525835 |
37 | P>H | No |
ClinGen gnomAD |
|
rs1206374871 CA381525828 |
37 | P>S | No |
ClinGen gnomAD |
|
CA381525842 rs1188203755 |
38 | S>G | No |
ClinGen gnomAD |
|
CA6133850 rs780233870 |
40 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381527919 rs1469702901 |
40 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs1174739521 CA381527986 |
44 | Q>H | No |
ClinGen gnomAD |
|
TCGA novel | 45 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs768707526 CA224133016 |
50 | R>L | No |
ClinGen ExAC gnomAD |
|
CA6133852 rs768707526 |
50 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA381528062 rs1165911865 |
50 | R>W | No |
ClinGen gnomAD |
|
rs1312621144 CA381528080 |
51 | G>D | No |
ClinGen TOPMed gnomAD |
|
CA6133853 rs774431677 |
52 | E>K | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 56 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs190227928 CA6133856 |
58 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 58 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA381528209 rs1394048967 |
60 | S>F | No |
ClinGen gnomAD |
|
TCGA novel | 60 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1195058408 CA381528216 |
61 | Q>E | No |
ClinGen TOPMed |
|
rs769702786 CA6133881 |
66 | L>P | No |
ClinGen ExAC gnomAD |
|
rs1166669766 CA381528796 |
67 | L>F | No |
ClinGen gnomAD |
|
CA381528808 rs1460468596 |
68 | F>L | No |
ClinGen gnomAD |
|
rs768317883 CA6133884 |
69 | R>G | No |
ClinGen ExAC gnomAD |
|
CA381528839 rs773756280 |
69 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6133885 rs773756280 |
69 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs761365631 CA6133887 |
73 | L>V | No |
ClinGen ExAC gnomAD |
|
CA6133888 rs556538832 |
76 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs750915028 CA6133890 |
76 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6133889 rs750915028 |
76 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381528934 rs750915028 |
76 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs556538832 CA224133909 |
76 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA381528941 rs1167801468 |
77 | E>D | No |
ClinGen TOPMed |
|
rs766734072 CA6133891 |
78 | E>A | No |
ClinGen ExAC gnomAD |
|
rs370556389 CA6133892 |
78 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6133893 rs574869350 |
79 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6133894 rs779169761 |
82 | L>S | No |
ClinGen ExAC gnomAD |
|
CA224133927 rs201237885 |
85 | F>C | No |
ClinGen TOPMed gnomAD |
|
CA381529052 rs1479398275 |
86 | Y>C | No |
ClinGen TOPMed |
|
CA381529077 rs1415203161 |
88 | E>Q | No |
ClinGen gnomAD |
|
CA381529186 rs1229317062 |
90 | K>N | No |
ClinGen TOPMed |
|
CA381529190 rs1379428572 |
91 | K>E | No |
ClinGen TOPMed |
|
rs913907517 CA224134019 |
93 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA6133915 rs778007364 |
95 | L>V | No |
ClinGen ExAC gnomAD |
|
CA6133916 rs751653371 |
96 | E>K | No |
ClinGen ExAC gnomAD |
|
CA6133917 rs200019576 |
97 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA381529307 rs200019576 |
97 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1349201741 CA381529331 |
99 | E>G | No |
ClinGen gnomAD |
|
rs367808517 CA6133918 |
99 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1237196544 CA381529345 |
100 | E>K | No |
ClinGen gnomAD |
|
CA6133919 rs564473820 |
101 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6133920 rs371602631 |
101 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6133921 rs371602631 |
101 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1590851494 CA381529367 |
102 | V>M | No |
ClinGen Ensembl |
|
rs747840297 CA6133922 |
104 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747840297 CA6133923 |
104 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs71640262 COSM690377 CA6133924 |
104 | R>H | lung Variant assessed as Somatic; 9.349e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs71640262 CA6133925 |
104 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA224134059 rs71640262 |
104 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs201802840 CA224134066 |
105 | S>I | No |
ClinGen gnomAD |
|
rs771465253 CA6133926 |
106 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381529449 rs1455500216 |
106 | R>W | No |
ClinGen TOPMed gnomAD |
|
rs1565066098 CA381529472 |
107 | E>Q | No |
ClinGen Ensembl |
|
rs1410379191 CA381529492 |
108 | I>V | No |
ClinGen TOPMed gnomAD |
|
CA6133929 rs543696664 |
109 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6133930 rs775654396 |
110 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs368707177 CA381529620 |
113 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6133931 rs763270677 |
113 | I>V | No |
ClinGen ExAC gnomAD |
|
CA6133933 rs751739128 |
114 | M>T | No |
ClinGen ExAC gnomAD |
|
CA381529658 rs1371856674 |
115 | K>R | No |
ClinGen gnomAD |
|
CA6133934 rs139639168 |
116 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA381529709 rs1348561442 |
117 | L>Q | No |
ClinGen gnomAD |
|
CA6133936 rs753803100 |
121 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs529567037 CA6133938 |
122 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6133955 rs754965566 |
124 | F>S | No |
ClinGen ExAC gnomAD |
|
CA6133956 rs765062789 |
125 | S>L | No |
ClinGen ExAC gnomAD |
|
rs758181077 CA6133958 |
128 | A>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 130 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6133959 rs777457733 |
131 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6133960 rs751224103 |
131 | H>R | No |
ClinGen ExAC gnomAD |
|
rs1401743159 CA381530825 |
132 | V>L | No |
ClinGen gnomAD |
|
CA381530865 rs1320861437 |
134 | G>A | No |
ClinGen gnomAD |
|
CA381530893 rs1404171042 |
136 | L>Q | No |
ClinGen TOPMed |
|
CA6133962 rs780788944 |
137 | G>W | No |
ClinGen ExAC |
|
rs745324704 CA6133963 |
139 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381530933 rs1370953566 |
139 | K>R | No |
ClinGen TOPMed |
|
rs770385315 CA6133964 |
140 | Q>K | No |
ClinGen ExAC gnomAD |
|
CA381530970 rs1460686367 |
142 | P>L | No |
ClinGen TOPMed |
|
CA381530966 rs1356953611 |
142 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1590851720 CA381530982 |
143 | P>L | No |
ClinGen Ensembl |
|
rs772378377 CA6133991 |
148 | P>L | No |
ClinGen ExAC gnomAD |
|
rs748500568 CA6133990 |
148 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760863502 CA6133993 |
149 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6133994 rs770926241 |
150 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771530727 CA224138684 |
151 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1047485224 CA224138696 |
152 | E>D | No |
ClinGen TOPMed |
|
CA381531118 rs1197812109 |
152 | E>K | No |
ClinGen gnomAD |
|
CA381531168 rs1454784072 |
155 | Q>E | No |
ClinGen TOPMed |
|
TCGA novel | 157 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6133996 rs762912207 |
158 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs761569320 CA6133999 |
160 | D>G | No |
ClinGen ExAC gnomAD |
|
rs377671393 CA6133998 |
160 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs377671393 CA224138725 |
160 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1157182710 CA381531242 |
161 | V>M | No |
ClinGen TOPMed |
|
CA6134001 rs370934447 |
166 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs753435050 CA6134022 |
169 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA381531479 rs753435050 |
169 | D>Y | No |
ClinGen ExAC gnomAD |
|
CA381531522 rs1397908259 |
172 | T>A | No |
ClinGen gnomAD |
|
CA381531555 rs1297416384 |
174 | F>L | No |
ClinGen gnomAD |
|
CA381531677 rs1234165276 |
179 | N>S | No |
ClinGen gnomAD |
|
CA6134025 rs753269682 |
183 | N>S | No |
ClinGen ExAC |
|
rs55696045 CA6134027 VAR_040378 |
184 | I>T | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA6134026 rs758872311 |
184 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747352703 | 185 | H>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
rs374028985 CA6134049 |
186 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1207053613 CA381532009 |
188 | M>L | No |
ClinGen gnomAD |
|
rs749342499 CA6134051 |
188 | M>T | No |
ClinGen ExAC gnomAD |
|
rs1477483736 CA381532076 |
189 | N>S | No |
ClinGen TOPMed |
|
CA381532081 rs1477483736 |
189 | N>T | No |
ClinGen TOPMed |
|
rs1173761928 CA381532138 |
192 | S>I | No |
ClinGen gnomAD |
|
rs200583894 CA381532141 |
192 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1465763738 CA381532147 |
193 | V>M | No |
ClinGen gnomAD |
|
CA381532180 rs1298782790 |
195 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA6134054 rs369743896 |
197 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs72556394 CA224139572 |
198 | G>V | No |
ClinGen Ensembl |
|
rs909327917 CA224139573 |
199 | R>G | No |
ClinGen TOPMed |
|
CA381532221 rs1246290647 |
199 | R>H | No |
ClinGen TOPMed |
|
rs1221281854 CA381532297 |
204 | E>K | No |
ClinGen gnomAD |
|
rs1256258635 CA381532316 |
205 | V>F | No |
ClinGen TOPMed |
|
CA381532325 rs1590853081 |
205 | V>G | No |
ClinGen Ensembl |
|
rs768813349 CA224139591 |
206 | Y>C | No |
ClinGen gnomAD |
|
rs759292676 CA6134057 |
206 | Y>N | No |
ClinGen ExAC gnomAD |
|
COSM1244560 CA6134059 rs774914090 |
209 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA224139606 rs868480523 |
209 | R>W | No |
ClinGen gnomAD |
|
rs940768002 CA224139628 |
210 | K>E | No |
ClinGen TOPMed |
|
CA224139635 rs1009944 |
211 | A>G | No |
ClinGen Ensembl |
|
CA224139632 rs1009943 |
211 | A>P | No |
ClinGen Ensembl |
|
CA6134090 rs755089226 |
218 | A>T | No |
ClinGen ExAC gnomAD |
|
rs765388264 CA6134091 |
219 | M>I | No |
ClinGen ExAC gnomAD |
|
CA381532667 rs1226475013 |
223 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
TCGA novel | 225 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1704278 CA6134094 rs781246400 |
226 | R>C | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA381532722 rs1487408087 |
226 | R>L | No |
ClinGen gnomAD |
|
CA6134095 rs745725870 |
228 | K>R | No |
ClinGen ExAC gnomAD |
|
CA6134096 rs755961102 |
229 | M>I | No |
ClinGen ExAC gnomAD |
|
CA381532867 rs1477157873 |
236 | A>S | No |
ClinGen TOPMed |
|
CA381532931 rs1200682182 |
240 | R>C | No |
ClinGen TOPMed |
|
rs768156866 CA6134099 |
241 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381532956 rs145638181 |
242 | M>L | No |
ClinGen ESP TOPMed gnomAD |
|
CA6134100 rs773936786 |
242 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA224139924 rs145638181 |
242 | M>V | No |
ClinGen ESP TOPMed gnomAD |
|
rs1160780700 CA381532999 |
245 | L>F | No |
ClinGen TOPMed gnomAD |
|
rs1160780700 CA381532997 |
245 | L>V | No |
ClinGen TOPMed gnomAD |
|
CA6134104 rs770458416 |
246 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA224139936 rs368479232 |
248 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
CA6134135 rs751653503 |
250 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381534096 rs1199989759 |
251 | C>S | No |
ClinGen gnomAD |
|
rs1476809971 CA381534143 |
254 | I>V | No |
ClinGen gnomAD |
|
CA381534176 rs1400659757 |
258 | S>L | No |
ClinGen gnomAD |
|
rs760688917 CA6134136 |
259 | Y>H | No |
ClinGen ExAC gnomAD |
|
rs753710294 CA6134138 |
260 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6134139 rs753710294 |
260 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1399412951 CA381534187 |
260 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA6134142 rs758003046 |
261 | F>L | No |
ClinGen ExAC gnomAD |
|
CA6134143 rs777286637 |
262 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs543467610 CA224140107 |
263 | T>M | No |
ClinGen 1000Genomes gnomAD |
|
rs781544095 CA6134146 |
265 | D>E | No |
ClinGen ExAC gnomAD |
|
CA381534214 rs1379183136 |
265 | D>N | No |
ClinGen TOPMed |
|
TCGA novel | 270 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 272 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1457680258 CA381534278 |
274 | M>V | No |
ClinGen gnomAD |
|
rs1362243970 CA381534309 |
276 | G>D | No |
ClinGen gnomAD |
|
CA381534351 rs1402018551 |
282 | H>R | No |
ClinGen gnomAD |
|
rs1364360150 CA381534409 |
291 | E>K | No |
ClinGen gnomAD |
|
CA381534421 rs1342751351 |
292 | A>G | No |
ClinGen TOPMed |
|
rs1219808769 CA381534417 |
292 | A>T | No |
ClinGen TOPMed |
|
rs202054233 CA6134179 |
293 | D>N | No |
ClinGen 1000Genomes ExAC |
|
CA6134181 rs756869266 |
294 | M>T | No |
ClinGen ExAC gnomAD |
|
CA6134180 rs751186389 |
294 | M>V | No |
ClinGen ExAC gnomAD |
|
CA6134182 rs142106623 |
295 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6134183 rs374978008 |
295 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs142106623 CA381534437 |
295 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA381534452 rs780679941 |
297 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6134185 rs780679941 |
297 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756737110 CA6134184 |
297 | Y>H | No |
ClinGen ExAC gnomAD |
|
rs755384357 CA6134187 |
298 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA381534460 rs1381865613 |
299 | A>T | No |
ClinGen gnomAD |
|
rs1417630605 CA381534466 |
300 | E>K | No |
ClinGen gnomAD |
|
CA224140371 rs895639184 |
308 | M>T | No |
ClinGen TOPMed |
|
CA6134193 rs769787472 |
310 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6134194 rs775391882 |
310 | N>S | No |
ClinGen ExAC gnomAD |
|
CA6134195 rs61891564 |
311 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1477610425 CA381534544 |
311 | R>H | No |
ClinGen TOPMed |
|
rs1310622815 CA381534551 |
312 | F>S | No |
ClinGen gnomAD |
|
rs763883122 CA6134196 |
314 | V>I | No |
ClinGen ExAC gnomAD |
|
rs528538949 CA6134198 |
316 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6134197 rs528538949 |
316 | R>W | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA381534656 rs1400246915 |
327 | E>K | No |
ClinGen gnomAD |
|
rs751785033 CA6134227 |
331 | V>M | No |
ClinGen ExAC gnomAD |
|
CA224140814 rs868706705 |
342 | F>L | No |
ClinGen Ensembl |
|
rs745926852 CA6134230 |
343 | S>Y | No |
ClinGen ExAC gnomAD |
|
CA6134231 rs768518674 |
344 | K>R | No |
ClinGen ExAC gnomAD |
|
CA6134232 rs778907356 |
346 | K>Q | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 349 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 352 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA381534840 rs1385231599 |
352 | G>V | No |
ClinGen gnomAD |
|
CA381534904 rs1590854258 |
361 | V>G | No |
ClinGen Ensembl |
|
rs1185607871 CA381534910 |
362 | L>P | No |
ClinGen TOPMed |
|
CA381534942 rs1590854269 |
366 | V>G | No |
ClinGen Ensembl |
|
CA381534939 rs1445646235 |
366 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs138698093 CA6134253 |
367 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6134255 rs770771786 COSM931026 |
369 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA381534964 rs1306863401 |
370 | S>G | No |
ClinGen gnomAD |
|
CA381534966 rs1348743840 |
370 | S>N | No |
ClinGen gnomAD |
|
TCGA novel | 374 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA381535014 rs1279335956 |
376 | S>C | No |
ClinGen gnomAD |
|
CA224140980 rs750744453 |
378 | G>A | No |
ClinGen gnomAD |
|
rs915582205 CA224140998 |
380 | M>L | No |
ClinGen Ensembl |
|
rs774824024 CA6134259 |
386 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM308967 CA381535077 rs1275870858 |
386 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA381535136 rs1175039905 |
389 | S>I | No |
ClinGen gnomAD |
|
CA381535132 rs1175039905 |
389 | S>N | No |
ClinGen gnomAD |
|
CA6134275 rs745565697 |
392 | R>W | No |
ClinGen ExAC gnomAD |
|
CA381535174 rs1477974154 |
393 | Q>* | No |
ClinGen gnomAD |
|
CA381535195 rs375195634 |
394 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6134279 rs565263383 |
398 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6134281 rs367821561 |
403 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA224141248 rs367821561 |
403 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs767877179 CA6134282 |
404 | R>C | No |
ClinGen ExAC gnomAD |
|
rs868080683 CA224141265 |
404 | R>H | Variant assessed as Somatic; 5.105e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs773412797 CA6134283 |
405 | M>L | No |
ClinGen ExAC gnomAD |
|
rs773412797 CA224141269 |
405 | M>V | No |
ClinGen ExAC gnomAD |
|
CA6134284 COSM1475804 rs761003605 |
406 | T>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs754014639 CA6134286 |
408 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1381279717 | 410 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
rs1317758016 CA381535543 |
410 | A>V | No |
ClinGen gnomAD |
|
CA6134309 rs761891768 |
411 | V>M | No |
ClinGen ExAC gnomAD |
|
CA6134311 rs750300020 |
414 | P>S | No |
ClinGen ExAC gnomAD |
|
rs781191950 | 417 | F>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
rs753496595 CA6134315 |
417 | F>S | No |
ClinGen ExAC gnomAD |
|
CA224141735 rs866486684 COSM1684899 |
418 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
rs374934278 CA224141744 |
419 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
CA381535706 rs1460848733 |
420 | E>D | No |
ClinGen gnomAD |
|
rs778421554 CA6134317 |
420 | E>K | No |
ClinGen ExAC gnomAD |
|
rs778421554 CA224141750 |
420 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA6134319 rs772629678 |
422 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1051180 CA6134320 |
422 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs973091689 CA381535733 |
423 | S>A | No |
ClinGen Ensembl |
|
CA381535737 rs1363496728 |
423 | S>C | No |
ClinGen TOPMed gnomAD |
|
CA381535735 rs1363496728 |
423 | S>F | No |
ClinGen TOPMed gnomAD |
|
rs973091689 CA224141792 |
423 | S>P | No |
ClinGen Ensembl |
|
CA381535789 rs1338822294 |
427 | G>A | No |
ClinGen gnomAD |
|
rs1472920694 CA381535783 |
427 | G>R | No |
ClinGen gnomAD |
|
rs1181588575 CA381535792 |
428 | L>V | No |
ClinGen gnomAD |
|
rs759859470 CA6134324 |
430 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs950389043 CA224141840 |
432 | D>N | No |
ClinGen Ensembl |
|
rs144705095 CA6134326 |
432 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1222491412 CA381535878 |
433 | V>G | No |
ClinGen gnomAD |
|
CA381535881 rs1442154190 |
434 | N>H | No |
ClinGen TOPMed |
|
CA6134327 rs763121919 |
434 | N>K | No |
ClinGen ExAC gnomAD |
|
rs773040164 CA6134329 |
435 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs542501875 CA6134328 |
435 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs561062604 CA6134330 |
439 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA381535968 rs1322672208 |
440 | L>M | No |
ClinGen gnomAD |
|
rs148084953 CA6134331 |
441 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs148084953 CA6134332 |
441 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1240019144 CA381535986 |
442 | R>* | No |
ClinGen TOPMed gnomAD |
|
rs1240019144 CA381535987 |
442 | R>G | No |
ClinGen TOPMed gnomAD |
|
rs372392743 CA6134333 |
442 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1302111063 CA381535996 |
443 | G>R | No |
ClinGen TOPMed |
|
CA381537160 rs1309787074 |
444 | A>S | No |
ClinGen TOPMed |
|
CA381537165 rs1408747889 |
444 | A>V | No |
ClinGen gnomAD |
|
rs573018580 CA6134360 |
449 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1208435182 CA381537348 |
454 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1208435182 CA381537349 |
454 | R>G | No |
ClinGen TOPMed gnomAD |
|
CA6134362 COSM931030 rs746293222 |
454 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs746293222 CA6134361 |
454 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1344526772 CA381537364 |
455 | S>F | No |
ClinGen gnomAD |
|
CA6134363 rs780501966 |
456 | L>V | No |
ClinGen ExAC gnomAD |
|
rs142713432 CA224142495 |
457 | D>E | No |
ClinGen ESP TOPMed |
|
rs1977983 CA381537401 |
457 | D>G | No |
ClinGen gnomAD |
|
CA224142488 rs1977983 |
457 | D>V | No |
ClinGen gnomAD |
|
CA224142507 rs1573538 |
458 | W>* | No |
ClinGen Ensembl |
|
rs749506738 CA6134364 |
459 | Q>* | No |
ClinGen ExAC gnomAD |
|
rs768877784 CA6134365 |
460 | M>T | No |
ClinGen ExAC gnomAD |
|
CA6134366 rs774347169 |
462 | F>L | No |
ClinGen ExAC gnomAD |
|
CA224142537 rs1977982 |
465 | K>M | No |
ClinGen Ensembl |
|
rs1376740220 CA381537542 |
465 | K>Q | No |
ClinGen TOPMed |
|
rs1590855401 CA381537632 |
466 | Y>S | No |
ClinGen Ensembl |
|
TCGA novel | 467 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6134383 rs754212842 |
469 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA224142655 rs950025242 |
471 | I>M | No |
ClinGen gnomAD |
|
CA381537743 rs1224558827 |
473 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs1224558827 CA381537746 |
473 | P>Q | No |
ClinGen TOPMed gnomAD |
|
CA381537744 rs1224558827 |
473 | P>R | No |
ClinGen TOPMed gnomAD |
|
rs779178115 CA6134385 |
474 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 478 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA381537806 rs1590855449 |
478 | N>T | No |
ClinGen Ensembl |
|
CA6134387 rs544703775 |
479 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA224142712 rs775188106 |
481 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769695885 CA6134390 |
481 | D>N | No |
ClinGen ExAC gnomAD |
|
CA381537849 rs1447636353 |
482 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA381537879 rs766786545 |
483 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753731501 CA6134393 |
484 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1008088029 CA224142721 |
485 | I>T | No |
ClinGen TOPMed |
|
CA381537937 rs1377372044 |
489 | D>N | No |
ClinGen gnomAD |
|
CA6134396 rs377477573 |
490 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA381538210 rs1179224114 |
501 | S>G | No |
ClinGen TOPMed |
|
TCGA novel | 504 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 505 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6134417 rs760244097 |
507 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765925133 CA6134418 |
507 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6134420 rs759915131 |
510 | P>A | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 511 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA381538399 rs1345158398 |
513 | I>V | No |
ClinGen TOPMed |
|
rs765668445 CA6134421 |
514 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1277772249 CA381538426 |
515 | E>D | No |
ClinGen TOPMed |
|
CA6134422 rs752975715 |
516 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA381538440 rs1425138914 |
517 | W>G | No |
ClinGen gnomAD |
|
rs892190905 CA224143047 |
519 | Q>R | No |
ClinGen TOPMed |
|
rs1590855812 CA381538488 |
521 | V>G | No |
ClinGen Ensembl |
|
CA381538484 rs1277612071 |
521 | V>M | No |
ClinGen TOPMed |
|
rs758669214 CA6134423 |
522 | A>V | No |
ClinGen ExAC gnomAD |
|
rs370321276 CA6134424 |
523 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA381538529 rs1230280834 |
525 | V>A | No |
ClinGen gnomAD |
|
CA381538527 rs1356261466 |
525 | V>F | No |
ClinGen TOPMed |
|
rs565139423 CA224143062 |
526 | F>L | No |
ClinGen Ensembl |
|
rs781074663 CA6134427 |
527 | D>N | Variant assessed as Somatic; 9.243e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA381538570 rs1449906556 |
528 | T>I | No |
ClinGen gnomAD |
|
CA381538562 rs1412955054 |
528 | T>S | No |
ClinGen TOPMed |
|
CA381538573 rs1358703028 |
529 | I>V | No |
ClinGen TOPMed |
|
CA381538581 rs1388252136 |
530 | N>D | No |
ClinGen TOPMed gnomAD |
|
rs1467094087 CA381538584 |
530 | N>S | No |
ClinGen gnomAD |
|
rs139609139 CA6134429 |
531 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA6134431 rs373590067 |
535 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA381538653 rs1158818904 |
535 | R>W | No |
ClinGen TOPMed |
|
rs771904461 CA381538696 |
538 | A>G | No |
ClinGen ExAC gnomAD |
|
rs771904461 CA6134432 |
538 | A>V | No |
ClinGen ExAC gnomAD |
|
CA6134433 rs773007307 |
539 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
TCGA novel | 539 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 543 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA381538824 rs1257730692 |
547 | L>P | No |
ClinGen TOPMed |
|
rs770499734 CA6134435 |
548 | G>C | No |
ClinGen ExAC gnomAD |
|
rs1241275567 CA381539001 |
554 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA381539072 rs1455421102 |
559 | C>Y | No |
ClinGen TOPMed |
|
rs1177623092 CA381539087 |
560 | I>V | No |
ClinGen gnomAD |
|
CA381539105 rs1251480558 |
561 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA381539157 rs1421145445 |
563 | G>S | No |
ClinGen gnomAD |
|
rs775980850 CA6134460 |
564 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs763393507 CA381539185 |
565 | M>L | No |
ClinGen ExAC gnomAD |
|
rs763393507 CA6134461 |
565 | M>V | No |
ClinGen ExAC gnomAD |
|
CA381539231 rs1590856345 |
570 | N>T | No |
ClinGen Ensembl |
|
rs892374367 CA224143395 |
574 | T>I | No |
ClinGen Ensembl |
|
VAR_040379 | 578 | R>Q | a colorectal adenocarcinoma sample; somatic mutation [UniProt] | No | UniProt |
rs140057016 CA6134465 |
579 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
CA6134464 rs762133593 |
579 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 582 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA381539368 rs1590856380 |
582 | Y>S | No |
ClinGen Ensembl |
|
rs1590856388 CA381539416 |
586 | N>T | No |
ClinGen Ensembl |
|
CA381539432 rs1261156029 |
587 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs760663193 CA6134467 |
588 | L>F | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 590 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA381539497 rs1175693753 |
591 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA381539542 rs1201746376 |
593 | E>G | No |
ClinGen gnomAD |
|
CA381539562 rs1427757064 |
594 | G>V | No |
ClinGen gnomAD |
|
rs1171484396 CA381539580 |
595 | E>G | No |
ClinGen gnomAD |
|
rs1429231630 CA381539590 |
596 | A>S | No |
ClinGen TOPMed |
|
COSM1736397 rs1046223737 CA224143472 |
597 | P>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated Ensembl |
TCGA novel | 597 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs748617781 CA6134500 |
598 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs545841183 CA224143544 |
599 | S>N | No |
ClinGen Ensembl |
|
CA381539761 rs1287273601 |
602 | T>I | No |
ClinGen TOPMed |
|
rs772349105 CA6134501 |
603 | M>T | No |
ClinGen ExAC gnomAD |
|
CA6134502 rs773591029 |
606 | I>M | No |
ClinGen ExAC gnomAD |
|
rs1329353654 CA381539841 |
607 | Q>* | No |
ClinGen gnomAD |
|
rs747238775 CA6134503 |
608 | S>L | No |
ClinGen ExAC gnomAD |
|
rs1337382095 CA381539865 |
609 | V>A | No |
ClinGen Ensembl |
|
CA381539869 rs1208908569 |
610 | E>K | No |
ClinGen TOPMed |
|
rs374955195 CA6134505 |
612 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA381539911 rs1188278348 |
613 | Q>E | No |
ClinGen gnomAD |
|
CA381539933 rs1244131139 |
614 | I>M | No |
ClinGen gnomAD |
|
rs1446888542 CA381539935 |
615 | K>Q | No |
ClinGen gnomAD |
|
rs1046543666 CA224143559 |
617 | R>C | No |
ClinGen TOPMed |
|
rs765341702 CA224143562 |
617 | R>H | No |
ClinGen ExAC |
|
rs765341702 CA6134507 |
617 | R>L | No |
ClinGen ExAC |
|
rs1364285412 CA381540010 |
622 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA6134508 rs774169368 |
625 | R>C | No |
ClinGen ExAC gnomAD |
|
rs1434289352 CA381540045 |
625 | R>H | No |
ClinGen gnomAD |
|
CA6134510 rs548308441 |
626 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs755811948 CA6134512 |
627 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 627 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1327614984 CA381540098 |
630 | F>L | No |
ClinGen gnomAD |
|
CA381540111 rs1264382181 |
631 | I>M | No |
ClinGen TOPMed gnomAD |
|
rs1208659582 CA381540103 |
631 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs758888904 | 636 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
CA381540198 rs1336709306 |
636 | S>G | No |
ClinGen TOPMed |
|
rs778340869 CA6134538 |
637 | D>N | No |
ClinGen ExAC gnomAD |
|
CA6134541 rs781649971 |
641 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1471378419 CA381540289 |
644 | K>E | No |
ClinGen TOPMed |
|
CA6134542 rs61763969 |
645 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6134543 rs770109747 |
646 | E>* | No |
ClinGen ExAC |
|
rs780044736 CA6134544 |
646 | E>V | No |
ClinGen ExAC |
|
rs1198059585 CA381540315 |
648 | R>C | No |
ClinGen gnomAD |
|
CA6134545 rs749373224 |
648 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381540325 rs773202529 |
649 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA224143677 rs1001981416 |
649 | D>N | No |
ClinGen gnomAD |
|
rs1440574399 CA381540326 |
650 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA381540336 rs1277841517 |
651 | Y>C | No |
ClinGen TOPMed |
|
CA6134548 rs149954659 |
652 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs921263753 CA224143697 |
652 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA381540342 rs921263753 |
652 | R>L | No |
ClinGen TOPMed gnomAD |
|
CA6134549 rs149954659 |
652 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 660 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs764931970 CA6134552 COSM1676220 |
660 | R>W | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1289041369 CA381540453 |
665 | K>N | No |
ClinGen TOPMed gnomAD |
|
CA6134553 rs752219530 |
668 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752219530 CA6134554 |
668 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763457854 CA6134555 |
669 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1353635469 CA381540511 |
670 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1323227874 CA381540520 |
671 | P>S | No |
ClinGen gnomAD |
|
CA6134559 rs61763970 |
672 | V>M | Variant assessed as Somatic; 4.966e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs756347417 CA6134560 |
674 | E>* | No |
ClinGen ExAC gnomAD |
|
rs1247198778 CA381540555 |
675 | L>P | No |
ClinGen gnomAD |
|
rs749400608 CA6134562 |
676 | S>C | No |
ClinGen ExAC gnomAD |
|
rs768791963 CA6134563 |
676 | S>N | No |
ClinGen ExAC gnomAD |
|
CA6134564 rs373199503 |
679 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1590856975 CA381540618 |
681 | V>I | No |
ClinGen Ensembl |
|
CA224143754 rs897804760 |
682 | Q>H | No |
ClinGen Ensembl |
|
rs1318881207 CA381540669 |
684 | G>D | No |
ClinGen gnomAD |
|
COSM238717 CA224143760 rs1030574788 |
684 | G>S | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs759325066 CA6134568 |
687 | N>S | No |
ClinGen ExAC gnomAD |
|
CA6134570 rs375875634 |
688 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs200632343 CA6134572 |
689 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA381540746 rs200632343 |
689 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
No associated diseases with P25098
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 |
8 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. |
cilium | A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. |
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. |
membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
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. |
7 GO annotations of molecular function
Name | Definition |
---|---|
alpha-2A adrenergic receptor binding | Binding to an alpha-2A adrenergic receptor. |
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. |
Edg-2 lysophosphatidic acid receptor binding | Binding to an Edg-2 lysophosphatidic acid 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. |
18 GO annotations of biological process
Name | Definition |
---|---|
cardiac muscle contraction | Muscle contraction of cardiac muscle tissue. |
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 acetylcholine receptor signaling pathway | A G protein-coupled receptor signaling pathway initiated by a ligand binding to an acetylcholine receptor on the surface of a target cell, and ends with regulation of a downstream cellular process, e.g. transcription. |
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. |
heart development | The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. |
negative regulation of relaxation of smooth muscle | Any process that stops, prevents or reduces the frequency, rate or extent of relaxation of smooth muscle. |
negative regulation of striated muscle contraction | Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle contraction. |
negative regulation of the force of heart contraction by chemical signal | Any process which decreases the force of heart muscle contraction mediated by chemical signaling, hormonal, autocrine or paracrine. |
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 catecholamine secretion | Any process that activates or increases the frequency, rate or extent of the regulated release of a catecholamine. |
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. |
regulation of the force of heart contraction | Any process that modulates the extent of heart contraction, changing the force with which blood is propelled. |
tachykinin receptor signaling pathway | A G protein-coupled receptor signaling pathway initiated by tachykinin binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process. Tachykinin is a short peptide with the terminal sequence (Phe-X-Gly-Leu-Met-NH2). |
viral entry into host cell | The process that occurs after viral attachment by which a virus, or viral nucleic acid, breaches the plasma membrane or cell envelope and enters the host cell. The process ends when the viral nucleic acid is released into the host cell cytoplasm. |
viral genome replication | Any process involved directly in viral genome replication, including viral nucleotide metabolism. |
20 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
P26818 | GRK3 | Beta-adrenergic receptor kinase 2 | Bos taurus (Bovine) | PR |
P43249 | GRK5 | G protein-coupled receptor kinase 5 | Bos taurus (Bovine) | SS |
P21146 | GRK2 | Beta-adrenergic receptor kinase 1 | Bos taurus (Bovine) | PR |
P32865 | Gprk1 | G protein-coupled receptor kinase 1 | Drosophila melanogaster (Fruit fly) | PR |
P34947 | GRK5 | G protein-coupled receptor kinase 5 | Homo sapiens (Human) | EV |
P35626 | GRK3 | Beta-adrenergic receptor kinase 2 | Homo sapiens (Human) | PR |
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 |
Q9WVL4 | Grk1 | Rhodopsin kinase GRK1 | Mus musculus (Mouse) | PR |
Q3UYH7 | Adrbk2 | Beta-adrenergic receptor kinase 2 | Mus musculus (Mouse) | PR |
Q99MK8 | Grk2 | Beta-adrenergic receptor kinase 1 | Mus musculus (Mouse) | PR |
Q62833 | Grk5 | G protein-coupled receptor kinase 5 | Rattus norvegicus (Rat) | SS |
P97711 | Grk6 | G protein-coupled receptor kinase 6 | Rattus norvegicus (Rat) | SS |
P26817 | Grk2 | Beta-adrenergic receptor kinase 1 | 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 | KILLPEPSIR | SVMQKYLEDR | GEVTFEKIFS |
70 | 80 | 90 | 100 | 110 | 120 |
QKLGYLLFRD | FCLNHLEEAR | PLVEFYEEIK | KYEKLETEEE | RVARSREIFD | SYIMKELLAC |
130 | 140 | 150 | 160 | 170 | 180 |
SHPFSKSATE | HVQGHLGKKQ | VPPDLFQPYI | EEICQNLRGD | VFQKFIESDK | FTRFCQWKNV |
190 | 200 | 210 | 220 | 230 | 240 |
ELNIHLTMND | FSVHRIIGRG | GFGEVYGCRK | ADTGKMYAMK | CLDKKRIKMK | QGETLALNER |
250 | 260 | 270 | 280 | 290 | 300 |
IMLSLVSTGD | CPFIVCMSYA | FHTPDKLSFI | LDLMNGGDLH | YHLSQHGVFS | EADMRFYAAE |
310 | 320 | 330 | 340 | 350 | 360 |
IILGLEHMHN | RFVVYRDLKP | ANILLDEHGH | VRISDLGLAC | DFSKKKPHAS | VGTHGYMAPE |
370 | 380 | 390 | 400 | 410 | 420 |
VLQKGVAYDS | SADWFSLGCM | LFKLLRGHSP | FRQHKTKDKH | EIDRMTLTMA | VELPDSFSPE |
430 | 440 | 450 | 460 | 470 | 480 |
LRSLLEGLLQ | RDVNRRLGCL | GRGAQEVKES | PFFRSLDWQM | VFLQKYPPPL | IPPRGEVNAA |
490 | 500 | 510 | 520 | 530 | 540 |
DAFDIGSFDE | EDTKGIKLLD | SDQELYRNFP | LTISERWQQE | VAETVFDTIN | AETDRLEARK |
550 | 560 | 570 | 580 | 590 | 600 |
KAKNKQLGHE | EDYALGKDCI | MHGYMSKMGN | PFLTQWQRRY | FYLFPNRLEW | RGEGEAPQSL |
610 | 620 | 630 | 640 | 650 | 660 |
LTMEEIQSVE | ETQIKERKCL | LLKIRGGKQF | ILQCDSDPEL | VQWKKELRDA | YREAQQLVQR |
670 | 680 | ||||
VPKMKNKPRS | PVVELSKVPL | VQRGSANGL |