P32298
SS
Gene name |
GRK4 (GPRK2L, GPRK4) |
Protein name |
G protein-coupled receptor kinase 4 |
Names |
G protein-coupled receptor kinase GRK4, ITI1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2868 |
EC number |
2.7.11.16: Protein-serine/threonine kinases |
Protein Class |
|
Descriptions
GRK4 (G protein-coupled receptor kinase 4) specifically phosphorylates the activated forms of G protein-coupled receptors. GRK4-alpha can phosphorylate rhodopsin and its activity is inhibited by calmodulin. The other three isoforms do not phosphorylate rhodopsin and do not interact with calmodulin. GRK5 possesses an autoinhibitory domain, because its deletion increases GRK5 affinity for both phospholipids and receptor. However, a similar sequence is not found within GRK4.
Autoinhibitory domains (AIDs)
Target domain |
187-449 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Accessory elements
329-351 (Activation loop from InterPro)
Target domain |
187-449 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
2 structures for P32298
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4YHJ | X-ray | 260 A | A/B | 1-578 | PDB |
| AF-P32298-F1 | Predicted | AlphaFoldDB |
523 variants for P32298
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA2822304 rs150529414 |
2 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374639395 CA2822305 |
3 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766303986 CA2822306 |
3 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753475880 CA91459947 |
4 | E>G | No |
ClinGen Ensembl |
|
|
rs759272038 CA2822308 |
6 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs767218370 CA356087873 |
8 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767218370 CA2822310 |
8 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1431635990 CA356087830 |
8 | A>T | No |
ClinGen TOPMed |
|
|
rs752345106 CA2822311 |
9 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264755909 CA356087905 |
10 | S>W | No |
ClinGen gnomAD |
|
|
rs138608466 CA2822312 |
11 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA91459965 rs138608466 |
11 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1434192900 CA356088064 |
15 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1459348324 CA356088074 |
16 | R>C | No |
ClinGen Ensembl |
|
|
CA2822315 rs758860503 |
18 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1166370241 CA356064048 |
19 | G>R | No |
ClinGen gnomAD |
|
|
CA2822387 rs753246270 |
19 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA356064073 rs1430335783 |
20 | Y>D | No |
ClinGen TOPMed |
|
|
rs760987933 CA2822388 |
21 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA356064152 rs1331123027 |
22 | K>N | No |
ClinGen gnomAD |
|
|
CA356064163 rs1397623193 |
23 | K>* | No |
ClinGen gnomAD |
|
|
CA356064204 rs1393411533 |
24 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA356064201 rs1393411533 |
24 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA356064220 rs1340017261 |
25 | G>S | No |
ClinGen gnomAD |
|
|
COSM293072 rs146194528 CA2822390 |
26 | R>C | large_intestine endometrium breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs754105109 CA2822391 |
26 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2822392 rs771559192 |
27 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1023161721 CA91412899 |
28 | K>E | No |
ClinGen TOPMed |
|
|
CA2822393 rs779041118 |
31 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA356064453 rs1481480122 |
33 | I>L | No |
ClinGen gnomAD |
|
|
CA356064450 rs1481480122 |
33 | I>V | No |
ClinGen gnomAD |
|
|
CA356064468 rs1278522390 |
34 | L>M | No |
ClinGen TOPMed |
|
|
CA356064473 rs1198429938 |
34 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs191361200 CA356064502 |
37 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2822394 rs191361200 |
37 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1189458739 CA356064531 |
39 | V>F | No |
ClinGen gnomAD |
|
|
rs200613667 CA2822395 |
40 | S>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2822396 rs572390378 |
41 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2822397 rs746933146 |
46 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA2822398 rs200257718 |
49 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781060909 CA2822399 |
50 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs774435006 CA2822451 |
51 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1037381067 CA91415072 |
52 | D>E | No |
ClinGen gnomAD |
|
|
CA2822453 rs767475510 |
52 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs900204981 CA356065815 |
53 | Y>D | No |
ClinGen TOPMed |
|
|
CA91415075 rs900204981 |
53 | Y>H | No |
ClinGen TOPMed |
|
|
rs1192049663 CA356065827 |
54 | S>G | No |
ClinGen gnomAD |
|
|
CA356065855 rs1307855757 |
56 | L>F | No |
ClinGen TOPMed |
|
|
rs137979610 CA2822455 |
56 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356065856 rs137979610 |
56 | L>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356065860 rs1432061062 |
57 | C>G | No |
ClinGen gnomAD |
|
|
rs1432061062 CA356065858 |
57 | C>S | No |
ClinGen gnomAD |
|
|
rs959207808 CA91415083 |
57 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA356065867 rs1272334386 |
58 | D>Y | No |
ClinGen gnomAD |
|
|
rs1281299800 CA356065890 |
61 | P>A | No |
ClinGen gnomAD |
|
|
rs140178959 CA2822458 |
61 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1281299800 CA356065889 |
61 | P>T | No |
ClinGen gnomAD |
|
|
rs369672282 CA91415097 |
62 | I>M | No |
ClinGen ESP gnomAD |
|
|
CA2822460 rs372027080 |
65 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372027080 CA91415101 |
65 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs2960306 CA2822462 |
65 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2960306 VAR_024573 CA2822461 |
65 | R>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1244813327 CA356065939 |
66 | L>V | No |
ClinGen gnomAD |
|
|
rs774603898 CA2822463 |
68 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA91415112 rs902601191 |
68 | R>K | No |
ClinGen gnomAD |
|
|
CA356065975 rs902601191 |
68 | R>M | No |
ClinGen gnomAD |
|
|
rs1578080933 CA356065979 |
68 | R>S | No |
ClinGen Ensembl |
|
|
rs770288052 CA2822464 |
72 | D>V | No |
ClinGen ExAC |
|
|
CA356066068 rs1396523362 |
73 | T>I | No |
ClinGen gnomAD |
|
|
rs778190769 CA2822465 |
74 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749707867 CA2822467 |
75 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs749707867 CA2822468 |
75 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs144843822 CA2822469 |
76 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775718373 CA2822472 |
81 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs142548315 CA2822471 |
81 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142938182 CA2822473 |
83 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA91415144 rs936911191 |
84 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA91415147 rs768758317 |
86 | A>S | No |
ClinGen Ensembl |
|
|
rs990679341 CA91415149 |
87 | V>M | No |
ClinGen gnomAD |
|
|
CA2822484 rs551413956 |
88 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2822485 rs771423294 |
90 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs374279061 CA2822486 |
91 | E>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA356067777 rs1560398012 |
93 | A>T | No |
ClinGen Ensembl |
|
|
rs377489222 CA2822489 |
94 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2822490 rs377489222 |
94 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761678692 CA2822493 |
95 | D>E | No |
ClinGen ExAC gnomAD |
|
|
VAR_051621 rs13305979 CA2822491 COSM368166 |
95 | D>H | lung [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA356067822 rs13305979 |
95 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2822492 rs13305979 |
95 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1447069985 CA356067872 |
97 | D>E | No |
ClinGen TOPMed |
|
|
CA356067875 COSM1429384 rs1364672968 |
98 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA356067877 rs371204790 |
98 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371204790 CA2822494 COSM1054842 |
98 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA2822496 rs762746916 |
101 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs766075113 CA2822497 |
102 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356067909 rs1397512091 |
103 | L>P | No |
ClinGen gnomAD |
|
|
rs199564470 CA356067914 |
104 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2822498 rs199564470 |
104 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1578105795 CA356067916 |
105 | I>L | No |
ClinGen Ensembl |
|
|
rs1425584430 CA356067931 |
107 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA356067932 rs1425584430 |
107 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA356067940 rs1340127073 |
108 | R>T | No |
ClinGen TOPMed |
|
|
CA2822502 COSM1054843 rs144617570 |
109 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA2822503 rs757713704 |
111 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs375677413 CA2822504 |
111 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1198335886 CA356068009 |
112 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs758831546 CA2822506 |
113 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs758831546 CA356068026 |
113 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs750913295 CA2822523 |
114 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2822524 rs758882045 |
115 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs34857805 VAR_046043 CA2822525 |
116 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA356071211 rs1343472913 |
117 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA356071235 rs1252867013 |
119 | P>S | No |
ClinGen TOPMed |
|
|
rs747337568 CA2822526 |
124 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs942272555 CA91422574 |
130 | R>G | No |
ClinGen TOPMed |
|
|
rs1438445075 CA356071594 |
131 | L>F | No |
ClinGen gnomAD |
|
|
rs748230328 CA2822530 |
131 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2822531 rs368709515 |
136 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2822534 rs749248762 |
138 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749248762 CA2822533 |
138 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs900634117 CA91422612 |
140 | K>R | No |
ClinGen Ensembl |
|
|
CA356071754 rs1239048645 |
141 | K>T | No |
ClinGen gnomAD |
|
|
rs1024323 CA356071774 |
142 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1024323 CA91422626 |
142 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2822536 rs199754747 |
142 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1024323 VAR_024574 CA2822537 |
142 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs760146038 CA2822539 |
143 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775204059 CA2822538 |
143 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA356071838 rs1398115044 |
146 | C>G | No |
ClinGen TOPMed |
|
|
rs753237430 CA2822541 |
146 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766926575 CA2822543 |
148 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA356073084 rs1387512280 |
149 | V>I | No |
ClinGen gnomAD |
|
|
rs571314364 CA91429509 |
150 | A>D | No |
ClinGen gnomAD |
|
|
rs1299421782 CA356073111 |
150 | A>S | No |
ClinGen gnomAD |
|
|
rs1299421782 CA356073106 |
150 | A>T | No |
ClinGen gnomAD |
|
|
rs138100796 CA2822569 |
151 | H>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138100796 CA2822570 |
151 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs977002569 CA91429524 |
152 | N>S | No |
ClinGen Ensembl |
|
|
rs757325904 CA2822572 |
153 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs758220969 CA2822575 |
156 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779929539 CA2822576 |
159 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs576986799 CA2822577 |
160 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776408925 CA2822579 |
162 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768368658 CA2822578 |
162 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747723501 CA2822580 |
163 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418493842 CA356073516 |
165 | S>N | No |
ClinGen gnomAD |
|
|
COSM1633652 rs373331769 CA356073581 |
167 | Y>C | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA356073566 rs1172065861 |
167 | Y>H | No |
ClinGen gnomAD |
|
|
CA2822582 rs373331769 |
167 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376458817 CA2822584 |
169 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2822585 rs767847908 |
170 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1450763680 CA356073726 |
172 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs117478149 RCV000952858 CA2822587 |
173 | Q>* | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs764367973 CA2822588 |
174 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA2822589 rs764367973 |
174 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs757379015 CA2822590 |
177 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs757379015 CA2822591 |
177 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1578209851 CA356073864 |
178 | E>G | No |
ClinGen Ensembl |
|
|
rs750460440 CA2822592 |
178 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356073858 rs750460440 |
178 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356073873 rs1281084036 |
179 | R>G | No |
ClinGen gnomAD |
|
|
rs758360135 CA2822593 |
179 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356074238 rs1451309352 |
180 | Q>K | No |
ClinGen TOPMed |
|
|
CA2822607 rs186623846 |
181 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA356074280 rs1211792393 |
181 | P>L | No |
ClinGen TOPMed |
|
|
CA356074281 rs1211792393 |
181 | P>R | No |
ClinGen TOPMed |
|
|
CA2822606 rs186623846 |
181 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2822609 rs141282743 |
182 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2822610 rs141282743 |
182 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1401756769 CA356074324 |
183 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2822611 rs45538934 VAR_051622 |
183 | T>R | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1392714785 COSM1429385 CA356074357 |
184 | K>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA2822612 rs751417311 |
185 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA356074480 rs1332982270 |
188 | R>K | No |
ClinGen gnomAD |
|
|
rs367979401 CA91430985 |
189 | H>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA356074498 rs1440124961 |
189 | H>N | No |
ClinGen gnomAD |
|
|
rs367979401 CA356074518 |
189 | H>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1241517335 CA356074549 |
190 | Y>* | No |
ClinGen gnomAD |
|
|
rs755846722 CA2822616 |
192 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755846722 CA356074611 |
192 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356074673 rs1214018104 |
194 | G>E | No |
ClinGen gnomAD |
|
|
CA91431049 rs866487253 |
196 | G>C | No |
ClinGen Ensembl |
|
|
rs866656116 CA91431051 |
196 | G>V | No |
ClinGen Ensembl |
|
|
rs370605613 CA2822620 |
197 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2822619 rs770317093 |
197 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356074790 rs370605613 |
197 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356074883 rs1167880664 |
200 | E>V | No |
ClinGen TOPMed |
|
|
CA356076302 rs1560456314 |
201 | V>F | No |
ClinGen Ensembl |
|
|
rs572038787 CA2822641 |
203 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356076396 rs1167542625 |
204 | C>G | No |
ClinGen gnomAD |
|
|
rs1009716084 CA91434073 |
204 | C>S | No |
ClinGen Ensembl |
|
|
CA2822642 rs562227299 |
205 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA356076456 rs562227299 |
205 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1311094693 CA356076481 |
206 | V>M | No |
ClinGen gnomAD |
|
|
rs773527943 CA356076503 |
207 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773527943 CA2822644 |
207 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763102146 CA2822645 |
207 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771141508 CA2822646 |
209 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA91434101 rs903972349 |
212 | M>I | No |
ClinGen Ensembl |
|
|
CA2822648 rs759677405 |
214 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356076680 rs1231466138 |
215 | C>* | No |
ClinGen gnomAD |
|
|
rs775540841 CA2822650 |
215 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs35824641 CA2822649 |
215 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs35824641 CA356076671 |
215 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775540841 CA2822651 |
215 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs763819143 CA2822652 |
216 | K>R | No |
ClinGen ExAC |
|
|
CA356076717 rs753629667 |
218 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA356076722 rs1201504647 |
218 | L>Q | No |
ClinGen gnomAD |
|
|
rs756866243 CA2822656 |
219 | Q>K | No |
ClinGen ExAC TOPMed |
|
|
CA2822657 rs764884675 |
219 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2822659 rs757898806 |
221 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1451518141 CA356076761 |
222 | R>G | No |
ClinGen gnomAD |
|
|
CA356076779 rs1394538672 |
224 | K>R | No |
ClinGen gnomAD |
|
|
rs1578248981 CA356076784 |
225 | K>E | No |
ClinGen Ensembl |
|
|
rs200846796 CA2822660 |
229 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356076823 rs1186591265 |
230 | A>G | No |
ClinGen TOPMed |
|
|
rs748628207 CA2822661 |
231 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2822662 rs368284634 |
233 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1578249161 CA356076876 |
234 | N>K | No |
ClinGen Ensembl |
|
|
rs778027536 CA2822663 |
236 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA91434250 rs1019611230 |
236 | K>R | No |
ClinGen TOPMed |
|
|
rs199873516 CA2822664 |
237 | R>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356076966 rs1289453801 |
240 | E>K | No |
ClinGen TOPMed |
|
|
rs771118594 CA2822665 |
241 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA356076995 rs1302120416 |
242 | V>M | No |
ClinGen gnomAD |
|
|
CA2822667 rs745989304 |
243 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356077075 rs1258301137 |
246 | F>L | No |
ClinGen gnomAD |
|
|
rs1140085 CA2822668 VAR_007806 |
247 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1140085 CA91434277 |
247 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356079368 rs1182793552 |
252 | Y>C | No |
ClinGen gnomAD |
|
|
CA356079364 rs1418479504 |
252 | Y>H | No |
ClinGen gnomAD |
|
|
CA2822687 rs3213502 |
253 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2822686 rs3213502 |
253 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2822688 rs377174142 |
253 | A>V | No |
ClinGen ESP ExAC |
|
|
rs1347531852 CA356079428 |
254 | Y>C | No |
ClinGen TOPMed |
|
|
CA2822689 rs201271230 |
255 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356079562 rs1238889776 |
258 | D>Y | No |
ClinGen TOPMed |
|
|
CA356079581 rs1261047806 |
259 | A>D | No |
ClinGen gnomAD |
|
|
CA2822690 rs761549972 |
262 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs769605390 CA2822691 |
263 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772942998 CA2822692 |
264 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA356079698 rs1426806441 |
264 | L>P | No |
ClinGen gnomAD |
|
|
CA2822693 rs762623772 |
266 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA91439101 rs930279433 |
267 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA356079765 rs1290826223 |
267 | M>L | No |
ClinGen TOPMed |
|
|
CA2822694 rs765948134 |
267 | M>T | No |
ClinGen ExAC |
|
|
CA91439105 rs878864791 |
268 | N>H | No |
ClinGen Ensembl |
|
|
CA2822696 rs759084345 |
271 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs751081081 CA2822695 |
271 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA91439116 rs868173300 |
274 | F>L | No |
ClinGen Ensembl |
|
|
CA2822697 rs764549771 |
275 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311844662 CA356080041 |
277 | Y>C | No |
ClinGen TOPMed |
|
|
rs113476947 CA91439147 |
279 | L>P | No |
ClinGen gnomAD |
|
|
rs113476947 CA356080091 |
279 | L>R | No |
ClinGen gnomAD |
|
|
rs1480744120 CA356080129 |
281 | N>S | No |
ClinGen gnomAD |
|
|
CA91439166 rs868582090 |
282 | P>L | No |
ClinGen Ensembl |
|
|
CA2822701 rs779456235 |
283 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA2822700 rs757656701 |
283 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356080212 rs1412612857 |
284 | F>C | No |
ClinGen TOPMed |
|
|
CA356080201 rs1474162734 |
284 | F>L | No |
ClinGen gnomAD |
|
|
rs780412255 CA2822704 |
285 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA2822703 rs577114989 |
285 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs545770050 CA2822707 |
290 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs1309259782 CA356080424 |
292 | Y>* | No |
ClinGen gnomAD |
|
|
CA2822710 rs769679366 |
292 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs748135091 CA2822709 |
292 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1383878457 CA356080477 |
294 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs777712417 CA91439270 |
296 | L>V | No |
ClinGen Ensembl |
|
|
rs150897108 CA2822712 |
297 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770625534 CA356080560 |
298 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356080537 rs1204914477 |
298 | C>G | No |
ClinGen TOPMed |
|
|
rs1302681914 CA356080556 |
298 | C>Y | No |
ClinGen gnomAD |
|
|
COSM342482 CA2822714 rs773963698 |
299 | G>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA91439312 rs201827860 |
300 | L>F | No |
ClinGen gnomAD |
|
|
rs1229270619 CA356080649 |
301 | E>G | No |
ClinGen gnomAD |
|
|
CA356080643 rs1341650343 |
301 | E>Q | No |
ClinGen gnomAD |
|
|
rs1276827133 CA356080670 |
302 | D>H | No |
ClinGen gnomAD |
|
|
rs541598491 CA2822715 |
304 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1054848 CA356080891 rs1484116947 |
307 | R>I | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1184503494 CA356080900 |
308 | I>L | No |
ClinGen gnomAD |
|
|
rs752109205 CA2822717 |
309 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs752109205 CA2822718 |
309 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA356082249 rs1221986140 |
312 | D>Y | No |
ClinGen gnomAD |
|
|
rs905021680 CA91441265 |
313 | L>V | No |
ClinGen TOPMed |
|
|
rs752878384 CA2822744 |
314 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs139428941 COSM3696620 CA2822746 |
317 | N>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1450636833 CA356082477 |
319 | L>V | No |
ClinGen gnomAD |
|
|
rs1247924115 CA356082540 |
320 | L>R | No |
ClinGen gnomAD |
|
|
rs1245640465 CA356082546 |
321 | D>G | No |
ClinGen TOPMed |
|
|
rs757146816 CA2822748 |
322 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs778034681 COSM254713 CA2822749 |
323 | R>C | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2822750 rs745596133 |
323 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356082572 rs745596133 |
323 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778034681 CA356082568 |
323 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757203953 CA2822765 |
325 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs540093348 CA2822766 |
327 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1040220531 CA91444402 |
327 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA2822768 rs762680427 |
330 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA91444421 rs762680427 |
330 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2822769 rs200471975 |
331 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356085380 rs200471975 |
331 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149085165 CA2822771 |
332 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356085449 rs1227066347 |
333 | L>* | No |
ClinGen gnomAD |
|
|
CA2822773 rs747603439 |
336 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2822775 rs774715725 |
338 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447844541 CA356085752 |
340 | G>E | No |
ClinGen gnomAD |
|
|
rs147312019 CA2822778 |
342 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2822779 rs140924898 |
343 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1054850 CA2822780 rs760891038 |
344 | R>* | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs751105368 CA356085954 |
344 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751105368 CA2822781 |
344 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356085968 rs1560490215 |
345 | G>R | No |
ClinGen Ensembl |
|
|
CA356086057 rs1416323488 |
347 | V>I | No |
ClinGen TOPMed |
|
|
rs1396410928 CA356086131 |
348 | G>E | No |
ClinGen gnomAD |
|
|
CA2822782 rs753979263 |
348 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA356086156 rs1433870463 |
350 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1231355641 CA356086206 |
351 | G>D | No |
ClinGen gnomAD |
|
|
CA2822786 rs758305030 |
351 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356086309 rs1578356753 |
353 | M>T | No |
ClinGen Ensembl |
|
|
rs1472792548 CA356086279 |
353 | M>V | No |
ClinGen TOPMed |
|
|
rs1387936190 CA356086919 |
355 | P>L | No |
ClinGen gnomAD |
|
|
rs780538253 CA2822815 |
355 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356086930 rs1324708245 |
356 | E>K | No |
ClinGen TOPMed |
|
|
CA2822818 rs776929038 |
357 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768989444 CA2822817 |
357 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2822819 rs748346927 |
358 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs769988480 CA2822820 |
359 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA356087142 rs1488853475 |
361 | E>G | No |
ClinGen gnomAD |
|
|
CA2822823 rs763074309 |
362 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356087225 rs1226660804 |
363 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2822826 rs369779066 |
364 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2822825 rs369779066 |
364 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2822828 rs755735371 |
365 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA356087409 rs1421748177 |
367 | P>H | No |
ClinGen gnomAD |
|
|
rs200663728 CA2822829 |
368 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200663728 CA356087428 |
368 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs983922638 CA91445814 |
369 | W>* | No |
ClinGen TOPMed |
|
|
rs983922638 CA356087498 |
369 | W>C | No |
ClinGen TOPMed |
|
|
CA356087528 rs1578367620 |
370 | W>* | No |
ClinGen Ensembl |
|
|
rs1411797885 CA356087547 |
371 | G>R | No |
ClinGen TOPMed |
|
|
rs1459012921 CA356087609 |
373 | G>D | No |
ClinGen gnomAD |
|
|
rs1459012921 CA356087615 |
373 | G>V | No |
ClinGen gnomAD |
|
|
CA356087649 rs368670185 |
374 | C>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA91445833 rs368670185 |
374 | C>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1409725999 CA356087706 |
376 | I>T | No |
ClinGen gnomAD |
|
|
CA356087740 rs1245280653 |
377 | Y>C | No |
ClinGen TOPMed |
|
|
rs1257129300 CA356087803 |
378 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA356087811 rs1257129300 |
378 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA356087890 rs1309076791 |
379 | M>I | No |
ClinGen gnomAD |
|
|
rs554816234 CA2822830 |
380 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA356088002 rs1226901293 |
382 | G>R | No |
ClinGen gnomAD |
|
|
CA2822833 rs55852353 VAR_046044 |
383 | H>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs368881220 CA2822832 |
383 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2822831 rs756733602 |
383 | H>Y | No |
ClinGen ExAC |
|
|
CA356088082 rs1272536207 |
384 | S>F | No |
ClinGen gnomAD |
|
|
CA2822834 rs540379295 |
384 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2822837 rs781539305 |
389 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA2822836 rs781539305 |
389 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA91445854 rs942347011 |
389 | Y>H | No |
ClinGen Ensembl |
|
|
CA91445861 rs923530313 |
392 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2822838 rs769964952 |
393 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA356088419 rs1256457645 |
396 | E>K | No |
ClinGen gnomAD |
|
|
CA356088481 rs1388994787 |
398 | V>A | No |
ClinGen gnomAD |
|
|
rs773478733 CA2822839 |
398 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs771111205 CA91445887 |
399 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771111205 CA2822841 |
399 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs913428068 CA91445896 |
400 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA356088661 rs1578368465 |
402 | I>T | No |
ClinGen Ensembl |
|
|
rs759552478 CA2822843 |
407 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356088851 rs1384018443 |
407 | E>V | No |
ClinGen TOPMed |
|
|
CA2822844 rs151005358 |
408 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151005358 CA356088868 |
408 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA91445907 rs267600137 |
410 | S>F | No |
ClinGen gnomAD |
|
|
CA356088947 rs267600137 |
410 | S>Y | No |
ClinGen gnomAD |
|
|
CA2822845 rs775206582 |
412 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA356089082 rs1256344300 |
414 | S>P | No |
ClinGen gnomAD |
|
|
rs1455332774 CA356089188 |
415 | E>D | No |
ClinGen TOPMed |
|
|
rs373078869 CA2822846 |
416 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2822848 rs377547812 |
418 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2822847 rs377547812 |
418 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2822849 rs756856593 |
419 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA356089329 rs140903356 |
420 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140903356 CA2822851 |
420 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2822852 rs144771780 |
421 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2822856 rs777904385 |
423 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2822855 rs756469640 |
423 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs767948389 CA2822870 |
424 | L>* | No |
ClinGen ExAC |
|
|
CA356092170 rs1578409896 |
424 | L>F | No |
ClinGen Ensembl |
|
|
rs753223761 CA2822871 |
426 | T>S | No |
ClinGen ExAC |
|
|
CA356092288 rs1435762911 |
428 | N>Y | No |
ClinGen gnomAD |
|
|
CA2822872 rs756529368 |
429 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2822875 rs745787782 |
432 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs532337911 CA2822873 |
432 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1287459446 CA356092424 |
434 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs779950728 CA2822879 |
438 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA2822878 rs772173426 |
438 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356092504 rs1221588091 |
440 | A>T | No |
ClinGen gnomAD |
|
|
CA2822880 VAR_051623 rs747003103 COSM281560 |
440 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
|
CA356092516 rs1226159928 |
441 | A>T | No |
ClinGen TOPMed |
|
|
rs552474549 CA2822882 |
442 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs552474549 CA2822881 |
442 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761579841 CA2822883 |
443 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA91450644 rs933402818 |
443 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA2822884 rs769500557 |
444 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA356092621 rs547383255 |
448 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs547383255 CA2822886 |
448 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302207767 CA356092642 |
449 | F>S | No |
ClinGen TOPMed |
|
|
CA2822887 rs765936775 |
453 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA356092793 rs1407900751 |
455 | R>G | No |
ClinGen gnomAD |
|
|
CA2822890 rs34022679 |
457 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2822889 rs761259291 |
457 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1207597061 CA356092900 |
459 | A>T | No |
ClinGen gnomAD |
|
|
rs1228435350 CA356092912 |
460 | N>D | No |
ClinGen gnomAD |
|
|
rs1157084727 CA356092918 |
460 | N>S | No |
ClinGen TOPMed |
|
|
rs1362290838 CA356092963 |
461 | M>I | No |
ClinGen gnomAD |
|
|
CA356092957 rs1362290838 |
461 | M>I | No |
ClinGen gnomAD |
|
|
rs200216453 CA2822893 |
461 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413044830 CA356092973 |
462 | L>P | No |
ClinGen TOPMed |
|
|
CA2822894 rs140345522 |
463 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA91450717 rs947401772 |
463 | E>Q | No |
ClinGen Ensembl |
|
|
rs758513559 CA91450755 |
464 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780190392 CA2822896 |
464 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA91450768 rs758513559 |
464 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758513559 CA2822895 |
464 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2822897 rs746999785 |
465 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA356093197 rs1422084667 |
468 | P>L | No |
ClinGen gnomAD |
|
|
CA2822898 rs754996577 |
469 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2822923 rs373572552 |
470 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs770683729 CA2822922 |
470 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1230249223 CA356094543 |
471 | H>R | No |
ClinGen gnomAD |
|
|
CA356094607 rs35024854 |
473 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2822925 VAR_046045 rs35024854 |
473 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2822926 rs775102699 |
474 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA356094670 rs762419096 |
475 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356094653 rs1265257870 |
475 | C>R | No |
ClinGen gnomAD |
|
|
CA2822927 rs762419096 |
475 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762419096 CA356094659 |
475 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2822929 rs550248487 |
477 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1262498360 CA356094734 |
478 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1377359706 CA356094761 |
479 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs766661544 CA2822931 |
480 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs377574695 CA2822932 |
481 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs570011807 CA356094817 |
482 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs570011807 CA2822935 |
482 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs570011807 CA2822934 |
482 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756057921 CA2822936 |
483 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756057921 CA2822937 |
483 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1042299109 CA91452582 |
485 | S>L | No |
ClinGen TOPMed |
|
|
rs1042299109 CA356094919 |
485 | S>W | No |
ClinGen TOPMed |
|
|
VAR_024575 rs1801058 CA2822938 |
486 | V>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1801058 CA356094928 |
486 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2822940 rs778721346 |
489 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1032617283 CA91452616 |
492 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2822943 rs779728763 |
493 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA356095056 rs138161585 |
493 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs138161585 CA2822942 |
493 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
VAR_046046 CA2822947 rs35463176 COSM371149 |
495 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA356095126 rs1578427940 |
496 | D>V | No |
ClinGen Ensembl |
|
|
rs1261465040 CA356095211 |
499 | F>L | No |
ClinGen gnomAD |
|
|
CA91452643 rs928806558 |
499 | F>L | No |
ClinGen TOPMed |
|
|
CA356095238 rs1486895432 |
500 | Y>* | No |
ClinGen gnomAD |
|
|
rs1281115508 CA356095230 |
500 | Y>C | No |
ClinGen gnomAD |
|
|
rs201392816 CA2822949 |
502 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA91452648 rs201392816 |
502 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2822948 rs771220706 |
502 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767668126 CA2822951 |
506 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767668126 CA356095338 |
506 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159390143 CA356095395 |
508 | V>I | No |
ClinGen gnomAD |
|
|
rs1283190652 CA356095451 |
511 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs764069331 CA2822954 |
513 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA356095540 rs1162086582 |
515 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1365554644 CA356095542 |
515 | E>G | No |
ClinGen gnomAD |
|
|
rs1420417272 CA356095998 |
516 | M>K | No |
ClinGen TOPMed |
|
|
rs1248196424 CA356095996 |
516 | M>L | No |
ClinGen gnomAD |
|
|
rs373898647 CA2822983 |
518 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356096021 rs1205010801 |
518 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs747636268 CA2822982 |
518 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356096016 rs747636268 |
518 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779444745 CA2822984 |
520 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA91453441 rs760977524 |
520 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA356096061 rs1578436228 |
521 | C>G | No |
ClinGen Ensembl |
|
|
CA356096100 rs1445949407 |
522 | F>L | No |
ClinGen gnomAD |
|
|
rs775794551 CA2822987 |
524 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA356096135 rs1285962004 |
525 | I>V | No |
ClinGen TOPMed |
|
|
CA2822988 rs747239722 |
526 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1388901097 CA356096152 |
526 | N>T | No |
ClinGen gnomAD |
|
|
rs1036536726 CA91453490 |
527 | K>E | No |
ClinGen TOPMed |
|
|
CA2822989 rs181661911 |
527 | K>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776636754 CA2822990 |
529 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs142122011 CA2822991 |
530 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148166461 CA2822993 |
533 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs938731692 CA91453511 |
536 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1361248902 CA356096416 |
539 | D>E | No |
ClinGen gnomAD |
|
|
rs762932207 CA2822994 |
539 | D>G | No |
ClinGen ExAC |
|
|
rs766305576 CA2822995 |
540 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751331808 CA2822996 |
540 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1310231441 CA356096510 |
542 | I>L | No |
ClinGen gnomAD |
|
|
rs764484732 CA2822997 |
543 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356096545 rs1202743000 |
543 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA2823000 rs767184705 |
544 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs185957548 CA2823001 |
545 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200869893 CA2823002 |
545 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200869893 CA356096613 |
545 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2823005 rs770949301 |
549 | P>L | No |
ClinGen ExAC |
|
|
rs758838441 CA2823006 |
550 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA356096717 rs1414819172 |
551 | R>G | No |
ClinGen TOPMed |
|
|
rs1430297921 CA356096743 |
552 | G>D | No |
ClinGen gnomAD |
|
|
CA2823011 rs768831199 |
555 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748221906 CA2823013 |
559 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs771934360 CA2823048 |
562 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA2823049 rs775081932 |
565 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs909287157 CA91413523 |
565 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1427616313 CA356063005 |
566 | M>I | No |
ClinGen gnomAD |
|
|
CA356063000 rs1367316906 |
566 | M>K | No |
ClinGen gnomAD |
|
|
rs977201058 CA91413524 |
566 | M>V | No |
ClinGen TOPMed |
|
|
CA2823050 rs377270614 |
568 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA356063019 rs1443909906 |
569 | S>G | No |
ClinGen gnomAD |
|
|
CA2823052 rs540546499 |
569 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM99066 CA2823051 rs763725772 |
569 | S>T | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2823053 rs761285329 |
572 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA356063060 rs1362174993 |
573 | V>A | No |
ClinGen gnomAD |
|
|
CA2823054 rs766925967 |
573 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA91413556 rs565033075 |
575 | P>S | No |
ClinGen Ensembl |
No associated diseases with P32298
5 regional properties for P32298
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 187 - 449 | IPR000719 |
| domain | AGC-kinase, C-terminal | 450 - 529 | IPR000961 |
| active_site | Serine/threonine-protein kinase, active site | 308 - 320 | IPR008271 |
| domain | RGS domain | 52 - 172 | IPR016137 |
| binding_site | Protein kinase, ATP binding site | 193 - 225 | IPR017441 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.16 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell cortex | The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| photoreceptor disc membrane | Stack of disc membranes located inside a photoreceptor outer segment, and containing densely packed molecules of photoreceptor proteins that traverse the lipid bilayer. Disc membranes arise as evaginations of the ciliary membrane during the development of the outer segment and may or may not remain contiguous with the ciliary membrane. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| 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. |
| rhodopsin kinase activity | Catalysis of the reaction: ATP + rhodopsin = ADP + phosphorhodopsin. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| 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 G protein-coupled receptor signaling pathway | Any process that modulates the frequency, rate or extent of G protein-coupled receptor signaling pathway. |
| regulation of rhodopsin mediated signaling pathway | Any process that modulates the frequency, rate or extent of rhodopsin-mediated signaling. |
| 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. |
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 |
| Q96LW2 | RSKR | Ribosomal protein S6 kinase-related protein | Homo sapiens (Human) | PR |
| Q15835 | GRK1 | Rhodopsin kinase GRK1 | Homo sapiens (Human) | PR |
| P43250 | GRK6 | G protein-coupled receptor kinase 6 | Homo sapiens (Human) | EV |
| P34947 | GRK5 | G protein-coupled receptor kinase 5 | Homo sapiens (Human) | EV |
| P25098 | GRK2 | Beta-adrenergic receptor kinase 1 | Homo sapiens (Human) | PR |
| P35626 | GRK3 | Beta-adrenergic receptor kinase 2 | Homo sapiens (Human) | PR |
| 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 |
| 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 |
| MELENIVANS | LLLKARQGGY | GKKSGRSKKW | KEILTLPPVS | QCSELRHSIE | KDYSSLCDKQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PIGRRLFRQF | CDTKPTLKRH | IEFLDAVAEY | EVADDEDRSD | CGLSILDRFF | NDKLAAPLPE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IPPDVVTECR | LGLKEENPSK | KAFEECTRVA | HNYLRGEPFE | EYQESSYFSQ | FLQWKWLERQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PVTKNTFRHY | RVLGKGGFGE | VCACQVRATG | KMYACKKLQK | KRIKKRKGEA | MALNEKRILE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KVQSRFVVSL | AYAYETKDAL | CLVLTIMNGG | DLKFHIYNLG | NPGFDEQRAV | FYAAELCCGL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EDLQRERIVY | RDLKPENILL | DDRGHIRISD | LGLATEIPEG | QRVRGRVGTV | GYMAPEVVNN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EKYTFSPDWW | GLGCLIYEMI | QGHSPFKKYK | EKVKWEEVDQ | RIKNDTEEYS | EKFSEDAKSI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CRMLLTKNPS | KRLGCRGEGA | AGVKQHPVFK | DINFRRLEAN | MLEPPFCPDP | HAVYCKDVLD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IEQFSVVKGI | YLDTADEDFY | ARFATGCVSI | PWQNEMIESG | CFKDINKSES | EEALPLDLDK |
| 550 | 560 | 570 | |||
| NIHTPVSRPN | RGFFYRLFRR | GGCLTMVPSE | KEVEPKQC |