Q7Z695
Gene name |
ADCK2 (AARF) |
Protein name |
Uncharacterized aarF domain-containing protein kinase 2 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:90956 |
EC number |
|
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Target domain |
169-553 (ADCK-like domain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure

Activated structure

1 structures for Q7Z695
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-Q7Z695-F1 | Predicted | AlphaFoldDB |
531 variants for Q7Z695
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA369538045 rs1172419063 |
3 | A>S | No |
ClinGen gnomAD |
|
rs962357791 CA168038253 |
4 | P>T | No |
ClinGen TOPMed |
|
CA168038264 rs866036456 |
6 | R>C | No |
ClinGen Ensembl |
|
CA4515800 rs764294162 |
6 | R>H | No |
ClinGen ExAC gnomAD |
|
rs764294162 CA4515801 |
6 | R>L | No |
ClinGen ExAC gnomAD |
|
CA369538121 rs1284508058 |
8 | S>T | No |
ClinGen TOPMed gnomAD |
|
rs1171862123 CA369538127 |
8 | S>Y | No |
ClinGen TOPMed |
|
rs1265564435 CA369538146 |
9 | V>A | No |
ClinGen gnomAD |
|
CA4515803 rs767719347 |
9 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767719347 CA369538134 |
9 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs994039173 CA168038287 |
10 | R>G | No |
ClinGen gnomAD |
|
CA369538166 rs1207731170 |
10 | R>M | No |
ClinGen gnomAD |
|
CA4515804 rs750682239 |
10 | R>S | No |
ClinGen ExAC |
|
CA4515805 rs756163990 |
12 | C>Y | No |
ClinGen ExAC gnomAD |
|
rs1440096341 CA369538208 |
13 | L>P | No |
ClinGen gnomAD |
|
CA369538236 rs1180209015 |
14 | S>* | No |
ClinGen TOPMed gnomAD |
|
CA369538238 rs1180209015 |
14 | S>L | No |
ClinGen TOPMed gnomAD |
|
CA168038293 rs938234046 |
17 | R>K | No |
ClinGen TOPMed gnomAD |
|
CA369538297 rs1378251358 |
17 | R>W | No |
ClinGen gnomAD |
|
CA4515806 rs151015312 |
18 | C>Y | No |
ClinGen ESP ExAC gnomAD |
|
rs1461070322 CA369538327 |
19 | F>L | No |
ClinGen gnomAD |
|
rs1259428390 CA369538354 |
20 | E>D | No |
ClinGen TOPMed |
|
CA168038298 rs1055398922 |
21 | L>V | No |
ClinGen TOPMed |
|
rs539450262 CA168038299 |
22 | R>G | No |
ClinGen 1000Genomes |
|
CA369538394 rs1325506321 |
23 | Q>R | No |
ClinGen gnomAD |
|
rs1401218567 CA369538410 |
24 | G>E | No |
ClinGen gnomAD |
|
CA4515808 rs752510115 |
25 | L>R | No |
ClinGen ExAC gnomAD |
|
CA369538436 rs1376599687 |
26 | S>N | No |
ClinGen gnomAD |
|
rs1037241483 CA168038342 |
30 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs1295876974 CA369538527 |
33 | C>W | No |
ClinGen gnomAD |
|
rs1200128375 CA369538541 |
35 | R>C | No |
ClinGen gnomAD |
|
rs368494131 CA4515815 |
37 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1405160459 CA369538578 |
38 | R>G | No |
ClinGen TOPMed gnomAD |
|
CA4515816 rs775066819 |
38 | R>S | No |
ClinGen ExAC gnomAD |
|
CA4515817 rs749696847 |
40 | C>G | No |
ClinGen ExAC gnomAD |
|
CA4515818 rs140971515 |
42 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA369538643 rs1424410579 |
44 | L>R | No |
ClinGen gnomAD |
|
CA369538647 rs1329520927 |
45 | G>D | No |
ClinGen gnomAD |
|
CA369538655 rs1449145266 |
46 | T>S | No |
ClinGen TOPMed gnomAD |
|
rs1305122547 CA369538665 |
48 | P>S | No |
ClinGen gnomAD |
|
rs1377539443 CA369538681 |
50 | V>A | No |
ClinGen gnomAD |
|
CA369538683 rs1233208910 |
51 | V>I | No |
ClinGen gnomAD |
|
rs978455804 CA168038391 |
54 | C>R | No |
ClinGen Ensembl |
|
CA369538724 rs1317976691 |
57 | V>A | No |
ClinGen TOPMed gnomAD |
|
rs762205061 CA4515821 |
57 | V>M | No |
ClinGen ExAC gnomAD |
|
CA369538727 rs1220132793 |
58 | G>R | No |
ClinGen TOPMed gnomAD |
|
CA369538728 rs1220132793 |
58 | G>S | No |
ClinGen TOPMed gnomAD |
|
rs1460687407 CA369538732 |
59 | E>K | No |
ClinGen TOPMed |
|
CA369538744 rs1306730304 |
60 | G>A | No |
ClinGen TOPMed gnomAD |
|
CA369538743 rs1306730304 |
60 | G>E | No |
ClinGen TOPMed gnomAD |
|
rs773373039 CA4515823 |
61 | A>G | No |
ClinGen ExAC gnomAD |
|
rs772472209 CA4515822 |
61 | A>P | No |
ClinGen ExAC gnomAD |
|
CA4515824 rs760917464 |
63 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760917464 CA369538762 |
63 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1482268405 CA369538758 |
63 | D>H | No |
ClinGen gnomAD |
|
rs1185769386 CA369538763 |
64 | V>I | No |
ClinGen TOPMed |
|
CA4515825 rs766388161 |
65 | L>P | No |
ClinGen ExAC gnomAD |
|
rs2968558 VAR_060990 CA4515826 |
66 | S>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4515827 rs147151212 |
67 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA369538786 rs1415411080 |
68 | R>Q | No |
ClinGen gnomAD |
|
CA369538789 rs1197109387 |
69 | R>G | No |
ClinGen TOPMed |
|
CA369538795 rs1337052295 |
69 | R>S | No |
ClinGen TOPMed |
|
rs1257096612 CA369538801 |
70 | V>A | No |
ClinGen TOPMed |
|
rs1257096612 CA369538800 |
70 | V>G | No |
ClinGen TOPMed |
|
rs1357775334 CA369538805 |
71 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA168038462 rs917101846 |
72 | C>R | No |
ClinGen gnomAD |
|
rs757071763 CA4515830 |
72 | C>Y | No |
ClinGen ExAC gnomAD |
|
rs574217210 CA4515832 |
73 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA4515831 rs574217210 |
73 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1291951905 CA369538816 |
73 | S>T | No |
ClinGen TOPMed |
|
rs1360919022 CA369538823 |
74 | G>E | No |
ClinGen gnomAD |
|
rs1268061856 CA369538821 |
74 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs1268061856 CA369538822 |
74 | G>W | No |
ClinGen TOPMed gnomAD |
|
rs553849506 CA168038477 |
76 | A>T | No |
ClinGen Ensembl |
|
CA168038479 rs375366072 |
77 | G>C | No |
ClinGen ESP gnomAD |
|
CA369538849 rs1210110828 |
79 | G>R | No |
ClinGen gnomAD |
|
rs1489318388 CA369538858 |
80 | P>L | No |
ClinGen gnomAD |
|
CA369538862 rs1241594478 |
81 | A>P | No |
ClinGen gnomAD |
|
CA369538860 rs1241594478 |
81 | A>T | No |
ClinGen gnomAD |
|
rs779627139 CA4515834 |
81 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA369538865 rs1423564698 |
82 | E>K | No |
ClinGen gnomAD |
|
CA369538876 rs1159810072 |
83 | S>N | No |
ClinGen gnomAD |
|
rs1362943623 CA369538883 |
84 | L>F | No |
ClinGen gnomAD |
|
rs140313292 CA4515835 |
84 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4515838 rs748675495 |
85 | P>A | No |
ClinGen ExAC gnomAD |
|
CA4515839 rs772386520 |
85 | P>L | No |
ClinGen ExAC gnomAD |
|
CA369538887 rs748675495 |
85 | P>S | No |
ClinGen ExAC gnomAD |
|
COSM1244439 rs367917022 CA4515844 |
86 | R>* | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs367917022 CA4515842 |
86 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs765258600 CA4515845 |
86 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA369538894 rs1420145582 |
87 | A>E | No |
ClinGen gnomAD |
|
rs376611609 CA168038574 |
87 | A>T | No |
ClinGen ESP TOPMed |
|
rs1355854417 CA369538912 |
89 | P>L | No |
ClinGen gnomAD |
|
CA4515850 rs756036859 |
92 | G>S | No |
ClinGen ExAC gnomAD |
|
CA369538968 rs1454118567 |
93 | V>D | No |
ClinGen gnomAD |
|
CA369538962 rs1237157599 |
93 | V>I | No |
ClinGen TOPMed |
|
rs867853634 CA168038588 |
94 | F>S | No |
ClinGen Ensembl |
|
CA369539016 rs1382540757 |
96 | H>Q | No |
ClinGen gnomAD |
|
CA369539014 rs1382540757 |
96 | H>Q | No |
ClinGen gnomAD |
|
rs753480742 CA4515852 |
96 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4515853 rs754460419 |
97 | L>F | No |
ClinGen ExAC gnomAD |
|
rs754460419 CA4515854 |
97 | L>V | No |
ClinGen ExAC gnomAD |
|
CA4515855 rs145231926 |
98 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs145231926 CA168038623 |
98 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1383657229 CA369539079 |
101 | L>F | No |
ClinGen TOPMed gnomAD |
|
rs1383657229 CA369539073 |
101 | L>I | No |
ClinGen TOPMed gnomAD |
|
rs1302127344 CA369539092 |
102 | R>H | No |
ClinGen gnomAD |
|
rs201013665 CA4515856 |
103 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs201013665 CA168038672 |
103 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs368706879 CA4515857 |
104 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA369539111 rs368706879 |
104 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs368706879 CA168038678 |
104 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1326804613 CA369539153 |
107 | L>S | No |
ClinGen TOPMed |
|
rs372972431 CA4515858 |
108 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs771251360 CA4515859 |
110 | F>C | No |
ClinGen ExAC gnomAD |
|
rs1386016608 CA369539216 |
111 | F>V | No |
ClinGen Ensembl |
|
CA369539236 rs1357171303 |
112 | P>S | No |
ClinGen gnomAD |
|
CA369539246 rs1271515338 |
113 | L>F | No |
ClinGen gnomAD |
|
rs1468260496 CA369539251 |
113 | L>R | No |
ClinGen gnomAD |
|
rs1404607207 CA369539255 |
114 | L>V | No |
ClinGen TOPMed |
|
rs137941874 CA4515862 |
117 | Y>C | No |
ClinGen ESP ExAC TOPMed |
|
CA369539291 rs137941874 |
117 | Y>S | No |
ClinGen ESP ExAC TOPMed |
|
rs546451203 CA369539319 |
118 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4515865 rs546451203 |
118 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1472841690 CA369539336 |
119 | L>F | No |
ClinGen TOPMed gnomAD |
|
CA369539331 rs1472841690 |
119 | L>I | No |
ClinGen TOPMed gnomAD |
|
CA369539351 rs1585839884 |
120 | T>P | No |
ClinGen Ensembl |
|
CA369539372 rs1360219632 |
121 | Y>N | No |
ClinGen gnomAD |
|
CA369539396 rs1221778633 |
122 | L>V | No |
ClinGen TOPMed gnomAD |
|
rs1460644514 CA369539436 |
124 | P>R | No |
ClinGen gnomAD |
|
CA4515868 rs149634554 |
124 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA369539464 rs1170912956 |
125 | S>R | No |
ClinGen TOPMed gnomAD |
|
CA369539567 COSM1448575 rs1304255744 |
130 | W>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
rs1389412434 CA369539592 |
132 | H>P | No |
ClinGen gnomAD |
|
rs1389412434 CA369539589 |
132 | H>R | No |
ClinGen gnomAD |
|
CA369539614 rs1489354281 |
134 | L>F | No |
ClinGen gnomAD |
|
rs1030889383 CA168038772 |
135 | L>V | No |
ClinGen Ensembl |
|
rs61737092 CA4515869 |
137 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1450124257 CA369539731 |
140 | T>N | No |
ClinGen gnomAD |
|
rs1585839962 CA369539758 |
142 | G>C | No |
ClinGen Ensembl |
|
CA369539767 rs1291565651 |
143 | P>S | No |
ClinGen gnomAD |
|
CA369539781 rs1321787063 |
144 | T>A | No |
ClinGen TOPMed |
|
CA4515873 rs764997853 |
150 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA369540218 rs1585839991 |
151 | W>R | No |
ClinGen Ensembl |
|
CA369540251 rs1359274597 |
152 | A>V | No |
ClinGen TOPMed |
|
rs1485538925 CA369540280 |
154 | T>S | No |
ClinGen TOPMed gnomAD |
|
rs757945662 CA4515875 |
155 | R>L | No |
ClinGen ExAC gnomAD |
|
CA4515876 rs376548364 |
156 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs968462082 CA168038852 |
157 | D>N | No |
ClinGen Ensembl |
|
CA4515878 rs757604223 |
157 | D>V | No |
ClinGen ExAC gnomAD |
|
rs1254830348 CA369540368 |
160 | S>* | No |
ClinGen gnomAD |
|
rs781418950 CA4515880 |
163 | F>L | No |
ClinGen ExAC gnomAD |
|
rs1422620873 CA369540441 |
164 | C>Y | No |
ClinGen TOPMed |
|
rs1460284301 CA369540465 |
165 | A>V | No |
ClinGen gnomAD |
|
rs369907540 CA168038864 |
168 | S>P | No |
ClinGen ESP TOPMed |
|
rs1310949681 CA369540575 |
170 | L>R | No |
ClinGen gnomAD |
|
rs1244221501 CA369540624 |
173 | R>* | No |
ClinGen TOPMed |
|
rs749351739 CA4515883 |
173 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA369540666 rs1400624340 |
175 | T>M | No |
ClinGen gnomAD |
|
CA369540694 rs1280341368 |
177 | H>Y | No |
ClinGen gnomAD |
|
rs1214999246 CA369540725 |
178 | P>L | No |
ClinGen TOPMed |
|
CA4515884 rs768909247 |
178 | P>S | No |
ClinGen ExAC gnomAD |
|
rs773237876 CA4515886 |
179 | W>* | No |
ClinGen ExAC gnomAD |
|
CA4515887 rs760563067 |
180 | T>I | No |
ClinGen ExAC gnomAD |
|
CA369540795 rs1563205218 |
181 | H>Q | No |
ClinGen Ensembl |
|
CA168038912 rs1035102862 |
181 | H>Y | No |
ClinGen TOPMed |
|
rs776303315 CA4515889 |
182 | T>I | No |
ClinGen ExAC gnomAD |
|
CA4515888 rs766131767 |
182 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4515891 rs764838169 |
184 | R>L | No |
ClinGen ExAC gnomAD |
|
rs1263219128 CA369540931 |
187 | R>W | No |
ClinGen gnomAD |
|
rs757853696 CA4515893 |
191 | G>R | No |
ClinGen ExAC gnomAD |
|
CA4515894 rs763623427 |
193 | D>N | No |
ClinGen ExAC |
|
CA4515896 rs764807562 |
194 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA369541153 rs1162335135 |
194 | W>R | No |
ClinGen gnomAD |
|
CA168038943 rs764807562 |
194 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA369541217 rs1585840206 |
196 | S>G | No |
ClinGen Ensembl |
|
CA168038965 rs992745506 |
196 | S>I | No |
ClinGen TOPMed gnomAD |
|
rs1344970138 CA369541397 |
200 | F>L | No |
ClinGen gnomAD |
|
CA369541377 rs1171694949 |
200 | F>S | No |
ClinGen TOPMed gnomAD |
|
CA369541465 rs746218817 |
202 | N>K | No |
ClinGen ExAC gnomAD |
|
CA4515901 rs756545274 |
203 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA369541483 rs1300177364 |
203 | R>W | No |
ClinGen gnomAD |
|
CA4515902 rs780403894 |
205 | P>H | No |
ClinGen ExAC gnomAD |
|
rs909882158 CA168039011 |
205 | P>S | No |
ClinGen TOPMed |
|
CA4515903 rs550086664 |
206 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA168039059 rs962924677 |
208 | S>* | No |
ClinGen TOPMed gnomAD |
|
CA369541577 rs962924677 |
208 | S>L | No |
ClinGen TOPMed gnomAD |
|
CA4515905 rs779140491 |
210 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs367804517 CA4515906 |
213 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1262030344 CA369541687 |
214 | V>M | No |
ClinGen gnomAD |
|
rs770769081 CA4515907 |
215 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs35108588 CA4515908 |
217 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA369541774 rs1191586320 |
218 | Y>C | No |
ClinGen gnomAD |
|
CA4515910 rs568257091 |
218 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1585840341 CA369541784 |
219 | A>T | No |
ClinGen Ensembl |
|
CA369541837 rs1362169511 |
221 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs139976453 CA4515913 |
221 | T>P | No |
ClinGen ESP ExAC gnomAD |
|
CA369541918 rs1255519887 |
225 | E>D | No |
ClinGen TOPMed |
|
CA369541972 rs1438982666 |
228 | S>G | No |
ClinGen gnomAD |
|
rs1325724285 CA369541977 |
228 | S>N | No |
ClinGen gnomAD |
|
rs1205404952 CA369541986 |
229 | V>L | No |
ClinGen TOPMed |
|
rs750990879 CA4515917 |
231 | R>G | No |
ClinGen ExAC gnomAD |
|
rs756501596 CA4515918 |
231 | R>K | No |
ClinGen ExAC gnomAD |
|
CA369542041 rs1224534033 |
233 | G>D | No |
ClinGen TOPMed gnomAD |
|
rs1256468782 CA369542047 |
234 | R>G | No |
ClinGen TOPMed |
|
rs780598246 CA369542070 |
235 | A>G | No |
ClinGen ExAC gnomAD |
|
CA369542064 rs1237618441 |
235 | A>P | No |
ClinGen gnomAD |
|
CA369542062 COSM1086257 rs1237618441 |
235 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs780598246 CA4515919 |
235 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1469580784 CA369542082 |
236 | S>F | No |
ClinGen gnomAD |
|
CA4515921 rs754048538 |
237 | C>R | No |
ClinGen ExAC gnomAD |
|
rs911643645 CA168039153 |
237 | C>S | No |
ClinGen TOPMed |
|
CA369542100 rs1317115461 |
239 | P>R | No |
ClinGen TOPMed |
|
rs1458015740 CA369542108 |
240 | P>L | No |
ClinGen gnomAD |
|
rs755265730 CA369542111 |
241 | F>L | No |
ClinGen ExAC gnomAD |
|
CA4515922 rs755265730 |
241 | F>V | No |
ClinGen ExAC gnomAD |
|
CA168039161 rs747678556 |
243 | H>R | No |
ClinGen Ensembl |
|
rs779336756 CA4515923 |
244 | T>A | No |
ClinGen ExAC gnomAD |
|
CA369542153 rs1165660098 |
246 | A>V | No |
ClinGen gnomAD |
|
rs1420102605 CA369542164 |
247 | V>I | No |
ClinGen TOPMed gnomAD |
|
rs150611402 CA4515925 |
248 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4515924 rs565847198 |
248 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1585840470 CA369542206 |
250 | L>M | No |
ClinGen Ensembl |
|
rs1563205359 CA369542217 |
250 | L>P | No |
ClinGen Ensembl |
|
CA4515927 rs780941675 |
251 | R>K | No |
ClinGen ExAC gnomAD |
|
rs745847746 CA4515928 |
252 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs769508886 CA4515929 |
254 | F>S | No |
ClinGen ExAC gnomAD |
|
CA4515930 rs775273615 |
256 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs762791078 CA4515931 |
257 | L>F | No |
ClinGen ExAC gnomAD |
|
CA369542316 rs762791078 |
257 | L>I | No |
ClinGen ExAC gnomAD |
|
CA4515932 rs768288290 |
257 | L>R | No |
ClinGen ExAC gnomAD |
|
CA4515933 rs774097144 |
258 | G>A | No |
ClinGen ExAC gnomAD |
|
CA168039216 rs890744377 |
260 | G>C | No |
ClinGen Ensembl |
|
rs767080374 CA4515935 |
261 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs199796975 CA4515934 |
261 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1318353440 CA369542382 |
262 | K>E | No |
ClinGen gnomAD |
|
rs1206274193 CA369542406 |
263 | P>L | No |
ClinGen gnomAD |
|
CA4515937 rs139708297 |
264 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs139708297 CA4515936 |
264 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA369542465 rs1419056835 |
268 | A>S | No |
ClinGen TOPMed |
|
rs754242732 CA4515940 |
269 | D>G | No |
ClinGen ExAC gnomAD |
|
CA369542469 rs1167680822 |
269 | D>N | No |
ClinGen TOPMed |
|
rs755461783 CA369542476 |
270 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770381485 CA168039289 |
270 | Q>H | No |
ClinGen Ensembl |
|
CA4515941 rs755461783 |
270 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1187510329 CA369542478 |
270 | Q>P | No |
ClinGen gnomAD |
|
CA369542487 rs1424513942 |
271 | S>L | No |
ClinGen gnomAD |
|
CA4515944 rs752984644 |
280 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201925626 CA4515945 COSM1548511 |
282 | D>E | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
CA168039317 rs149775476 |
282 | D>H | No |
ClinGen ESP |
|
rs1470997855 CA369542574 |
285 | G>V | No |
ClinGen gnomAD |
|
CA369542583 rs1308667781 |
287 | N>Y | No |
ClinGen Ensembl |
|
CA4515946 rs777911509 |
288 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4515948 rs145047060 |
289 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs745744733 CA4515947 |
289 | G>R | No |
ClinGen ExAC gnomAD |
|
CA4515950 rs375652254 |
292 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs375652254 CA4515949 |
292 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1292300382 CA369542610 |
292 | R>W | No |
ClinGen TOPMed gnomAD |
|
CA369542617 rs768492335 |
293 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4515951 rs768492335 |
293 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1270686171 CA369542627 |
295 | V>F | No |
ClinGen gnomAD |
|
rs1306675992 CA369542634 |
296 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA369542648 rs1328807301 |
298 | H>R | No |
ClinGen TOPMed |
|
CA4515954 rs773829719 |
301 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA369542683 rs1282304334 |
303 | T>S | No |
ClinGen gnomAD |
|
rs1585840720 CA369542681 |
303 | T>S | No |
ClinGen Ensembl |
|
rs1484733084 CA369542691 |
304 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA168039401 rs200726170 |
305 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs771418834 CA4515956 |
305 | L>H | No |
ClinGen ExAC gnomAD |
|
rs200726170 CA4515955 |
305 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs760319677 CA4515958 |
307 | S>F | No |
ClinGen ExAC gnomAD |
|
rs1140034 VAR_029992 CA4515957 |
307 | S>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs766988293 CA4515959 |
308 | V>M | No |
ClinGen ExAC gnomAD |
|
CA369542745 rs1176094890 |
309 | A>T | No |
ClinGen gnomAD |
|
rs777326586 CA4515960 |
311 | K>T | No |
ClinGen ExAC gnomAD |
|
rs201524841 CA4515982 |
312 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA369542966 rs536967545 |
315 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA168039694 rs536967545 |
315 | P>R | No |
ClinGen TOPMed gnomAD |
|
CA168039680 rs1025654669 |
315 | P>T | No |
ClinGen TOPMed |
|
rs1215764326 CA369542976 |
316 | G>D | No |
ClinGen gnomAD |
|
rs1179845448 CA369543045 |
319 | A>S | No |
ClinGen TOPMed gnomAD |
|
CA369543048 rs1179845448 |
319 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs1235034063 CA369543062 |
320 | Q>E | No |
ClinGen gnomAD |
|
CA4515984 rs751831945 |
320 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1156357792 CA369543083 |
322 | H>N | No |
ClinGen gnomAD |
|
rs761837033 CA4515985 |
323 | M>T | No |
ClinGen ExAC gnomAD |
|
rs1585841194 CA369543132 |
324 | D>A | No |
ClinGen Ensembl |
|
rs767618887 CA4515987 |
325 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA168039716 rs955576974 |
326 | L>Q | No |
ClinGen TOPMed |
|
CA4515988 rs754957785 |
328 | M>L | No |
ClinGen ExAC gnomAD |
|
rs551500242 CA4515989 |
330 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA369543321 rs752532902 |
332 | S>R | No |
ClinGen ExAC gnomAD |
|
CA168039731 rs919343786 |
333 | R>* | No |
ClinGen TOPMed gnomAD |
|
rs758167936 CA4515991 |
333 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758167936 CA369543334 |
333 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1563205704 CA369543357 |
334 | V>A | No |
ClinGen Ensembl |
|
CA369543354 rs1563205704 |
334 | V>G | No |
ClinGen Ensembl |
|
rs1356140109 CA369543385 |
336 | G>R | No |
ClinGen gnomAD |
|
rs1235408794 CA369543394 |
336 | G>V | No |
ClinGen gnomAD |
|
CA369543402 rs770496284 |
337 | V>F | No |
ClinGen ExAC gnomAD |
|
rs1585841284 CA369543406 |
337 | V>G | No |
ClinGen Ensembl |
|
rs770496284 CA4515994 |
337 | V>I | No |
ClinGen ExAC gnomAD |
|
CA4515995 rs780861662 |
338 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA369543484 rs1196809101 |
342 | K>E | No |
ClinGen TOPMed gnomAD |
|
rs1231960088 CA369543493 |
343 | W>G | No |
ClinGen gnomAD |
|
rs745424795 CA4515996 |
344 | L>F | No |
ClinGen ExAC gnomAD |
|
CA369543514 rs1468230677 |
346 | L>V | No |
ClinGen gnomAD |
|
CA369543526 rs1436624517 COSM3778162 |
348 | E>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA369543538 rs1563205750 |
349 | I>T | No |
ClinGen Ensembl |
|
rs1250465905 CA369543558 |
352 | E>* | No |
ClinGen gnomAD |
|
CA4515998 rs770327818 |
353 | F>C | No |
ClinGen ExAC gnomAD |
|
rs770327818 CA369543567 |
353 | F>Y | No |
ClinGen ExAC gnomAD |
|
CA369543599 rs1369635549 |
357 | M>I | No |
ClinGen TOPMed |
|
rs1184767561 CA369543601 |
358 | V>I | No |
ClinGen TOPMed |
|
rs1189641003 CA369543611 |
359 | Q>R | No |
ClinGen gnomAD |
|
rs1474277677 CA369544587 |
361 | I>T | No |
ClinGen TOPMed gnomAD |
|
CA4516012 rs777714947 |
362 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs368382557 CA4516013 COSM4153889 |
364 | R>C | ovary [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA4516014 rs150963091 |
364 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs745347858 CA4516016 |
366 | E>K | No |
ClinGen ExAC gnomAD |
|
CA369544725 rs1383018682 |
367 | A>V | No |
ClinGen gnomAD |
|
CA369544784 rs1325060889 |
370 | L>V | No |
ClinGen gnomAD |
|
rs769233732 CA4516018 |
371 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4516019 rs780564533 |
372 | H>N | No |
ClinGen ExAC gnomAD |
|
rs1328192121 CA369544824 |
372 | H>P | No |
ClinGen gnomAD |
|
CA369544886 rs1267095486 |
374 | Q>H | No |
ClinGen TOPMed |
|
rs1243022515 CA369544914 |
376 | N>D | No |
ClinGen Ensembl |
|
rs774714848 CA4516022 |
378 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4516021 rs768944788 |
378 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762224232 CA4516023 |
379 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1411182964 CA369545041 |
381 | K>N | No |
ClinGen TOPMed |
|
rs1263335432 CA369545045 |
382 | A>T | No |
ClinGen gnomAD |
|
rs773463144 CA4516025 |
383 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA168042988 rs745452569 |
387 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4516028 rs745452569 |
387 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1377161063 CA369545217 |
389 | L>P | No |
ClinGen gnomAD |
|
rs150090657 CA4516030 COSM385583 |
390 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA4516031 COSM1448576 rs74761630 |
390 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs200177899 CA4516032 |
391 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA369545260 rs1381852038 |
391 | P>S | No |
ClinGen gnomAD |
|
rs1373610949 CA369545271 |
392 | F>V | No |
ClinGen gnomAD |
|
CA369545344 rs1439382379 |
395 | R>G | No |
ClinGen gnomAD |
|
CA4516033 rs767251823 |
396 | E>G | No |
ClinGen ExAC gnomAD |
|
rs1013680811 CA168042994 |
396 | E>K | No |
ClinGen TOPMed |
|
CA4516034 rs750061930 |
397 | V>L | No |
ClinGen ExAC gnomAD |
|
CA4516035 rs376247400 COSM205022 |
401 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
CA369545521 rs1269170560 |
402 | Y>C | No |
ClinGen TOPMed |
|
rs1348156091 CA369545514 |
402 | Y>H | No |
ClinGen gnomAD |
|
CA369545553 rs1207673668 |
403 | E>D | No |
ClinGen gnomAD |
|
rs761648468 CA4516049 |
404 | E>K | No |
ClinGen ExAC |
|
CA369546677 rs1272623770 |
408 | V>A | No |
ClinGen TOPMed |
|
CA369546696 rs1460072692 |
410 | S>G | No |
ClinGen gnomAD |
|
CA369546702 rs1164591631 |
410 | S>T | No |
ClinGen gnomAD |
|
CA369546726 rs1375293580 |
411 | Y>C | No |
ClinGen gnomAD |
|
CA369546722 rs1355443257 |
411 | Y>D | No |
ClinGen gnomAD |
|
rs963194779 CA168044026 |
412 | Q>L | No |
ClinGen TOPMed |
|
CA369546740 rs963194779 |
412 | Q>R | No |
ClinGen TOPMed |
|
CA369546753 rs1296903663 |
413 | Q>P | No |
ClinGen gnomAD |
|
rs750029948 CA4516053 |
414 | A>G | No |
ClinGen ExAC gnomAD |
|
rs865803385 CA168044032 |
414 | A>T | No |
ClinGen Ensembl |
|
CA4516055 rs138501789 |
417 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA369546817 rs1585846634 |
418 | V>G | No |
ClinGen Ensembl |
|
CA168044054 rs3748092 |
418 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4516057 rs3748092 VAR_041418 |
418 | V>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs3748092 CA4516058 VAR_029993 |
418 | V>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1311794570 CA369546829 |
419 | D>E | No |
ClinGen gnomAD |
|
CA369546842 rs752945851 |
420 | L>F | No |
ClinGen ExAC gnomAD |
|
CA369546849 rs1585846655 |
421 | K>Q | No |
ClinGen Ensembl |
|
rs758695329 CA4516060 |
423 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1346560614 CA369546902 |
424 | I>M | No |
ClinGen TOPMed |
|
CA369546905 rs1482774166 |
425 | A>T | No |
ClinGen gnomAD |
|
rs376435154 CA4516061 |
426 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs771052975 CA4516063 |
426 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs376435154 CA4516062 |
426 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4516066 rs770012583 |
431 | M>T | No |
ClinGen ExAC gnomAD |
|
rs1195969083 CA369547102 |
435 | M>I | No |
ClinGen TOPMed |
|
rs1390172628 CA369547091 |
435 | M>T | No |
ClinGen gnomAD |
|
CA4516088 rs749441775 |
436 | I>L | No |
ClinGen ExAC gnomAD |
|
rs1436781513 CA369548396 |
436 | I>M | No |
ClinGen TOPMed |
|
CA4516087 rs749441775 |
436 | I>V | No |
ClinGen ExAC gnomAD |
|
rs773243022 CA4516089 |
438 | V>L | No |
ClinGen ExAC gnomAD |
|
CA4516090 rs148326960 |
439 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1021224510 CA168047863 |
440 | N>K | No |
ClinGen TOPMed |
|
rs1470501650 CA369548433 |
442 | V>L | No |
ClinGen TOPMed |
|
rs1441569901 CA369548438 |
443 | H>D | No |
ClinGen gnomAD |
|
rs966828430 CA168047866 |
443 | H>L | No |
ClinGen TOPMed gnomAD |
|
rs966828430 CA369548443 |
443 | H>R | No |
ClinGen TOPMed gnomAD |
|
CA369548446 rs1247469314 |
444 | A>T | No |
ClinGen gnomAD |
|
CA4516091 rs770783927 |
446 | L>H | No |
ClinGen ExAC gnomAD |
|
rs1585851534 CA369548469 |
447 | H>P | No |
ClinGen Ensembl |
|
CA4516092 rs369891942 |
447 | H>Q | No |
ClinGen ESP ExAC gnomAD |
|
CA168047910 rs970754211 |
450 | N>K | No |
ClinGen Ensembl |
|
CA369548500 rs1247832752 |
452 | L>Q | No |
ClinGen gnomAD |
|
CA369548503 rs1469148913 |
453 | V>I | No |
ClinGen gnomAD |
|
rs1196071618 CA369548514 |
454 | Q>R | No |
ClinGen gnomAD |
|
CA369548520 COSM2861401 rs1477987414 |
455 | G>D | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA369548518 rs1251608254 |
455 | G>R | No |
ClinGen gnomAD |
|
rs372957490 CA369548537 |
458 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4516096 rs372957490 |
458 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA369548545 rs1402130012 |
459 | L>P | No |
ClinGen gnomAD |
|
rs200197811 CA4516097 |
461 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1448149743 CA369548570 |
463 | Q>R | No |
ClinGen gnomAD |
|
CA168047940 rs926862140 |
464 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs369426384 CA4516099 |
465 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1435644663 CA369548586 |
466 | Q>K | No |
ClinGen gnomAD |
|
CA168047959 rs941702313 |
467 | L>P | No |
ClinGen TOPMed gnomAD |
|
rs1585851623 CA369548595 |
467 | L>V | No |
ClinGen Ensembl |
|
CA4516101 rs781621360 |
469 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1037544323 CA168047965 |
470 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs1585851632 CA369548622 |
471 | D>G | No |
ClinGen Ensembl |
|
rs1335919307 CA369548629 |
472 | I>T | No |
ClinGen gnomAD |
|
rs150836435 CA4516103 |
472 | I>V | No |
ClinGen ESP ExAC TOPMed |
|
rs372965751 CA4516104 |
476 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1585851662 CA369548662 |
477 | V>G | No |
ClinGen Ensembl |
|
CA4516106 rs544359320 |
477 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs200625798 CA4516108 |
478 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4516107 rs777523650 |
478 | V>M | No |
ClinGen ExAC gnomAD |
|
CA4516110 rs200474792 |
480 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs199833545 CA4516111 |
481 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs911553458 CA168048003 |
482 | S>P | No |
ClinGen TOPMed gnomAD |
|
CA4516112 rs143518658 |
483 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs763966821 CA4516114 |
484 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763966821 CA4516113 |
484 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA168048036 rs1038893498 |
485 | C>Y | No |
ClinGen gnomAD |
|
rs774650705 CA4516117 |
486 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs375726537 CA4516119 |
488 | R>* | No |
ClinGen ESP ExAC gnomAD |
|
CA369548716 rs750816667 |
488 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4516120 rs750816667 |
488 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1003699102 CA168048081 |
490 | V>M | No |
ClinGen TOPMed |
|
rs1275638187 CA369548730 |
491 | L>P | No |
ClinGen gnomAD |
|
rs754974969 CA4516124 |
493 | D>H | No |
ClinGen ExAC |
|
CA369548752 rs1485816714 |
495 | G>D | No |
ClinGen gnomAD |
|
CA4516126 rs748232543 |
495 | G>S | No |
ClinGen ExAC gnomAD |
|
rs1366522303 CA369548764 |
497 | V>L | No |
ClinGen gnomAD |
|
rs1472310242 CA369548768 |
498 | A>T | No |
ClinGen gnomAD |
|
rs146236319 CA4516128 |
498 | A>V | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
CA369548773 rs1427730252 |
499 | E>* | No |
ClinGen gnomAD |
|
CA369548774 rs1427730252 |
499 | E>K | No |
ClinGen gnomAD |
|
rs1307553029 CA369548799 |
502 | A>V | No |
ClinGen gnomAD |
|
CA4516131 rs527563445 |
507 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA369548831 rs1228691411 |
507 | N>K | No |
ClinGen TOPMed gnomAD |
|
rs1272287641 CA369548845 |
509 | R>L | No |
ClinGen TOPMed gnomAD |
|
CA369548843 rs1272287641 |
509 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA369548842 rs1244487319 COSM231716 |
509 | R>W | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
CA369548847 rs1340717461 |
510 | A>S | No |
ClinGen gnomAD |
|
rs1273315811 CA369548862 |
512 | F>S | No |
ClinGen gnomAD |
|
CA369548868 rs1262909690 |
513 | M>L | No |
ClinGen gnomAD |
|
rs1408539619 CA369548878 |
514 | A>D | No |
ClinGen TOPMed |
|
CA369548884 rs1585851871 |
515 | V>G | No |
ClinGen Ensembl |
|
rs767990993 CA4516133 |
516 | V>L | No |
ClinGen ExAC gnomAD |
|
CA369548897 rs1193714155 |
517 | M>R | No |
ClinGen gnomAD |
|
rs1303860189 CA369548904 |
518 | G>E | No |
ClinGen TOPMed |
|
CA369548901 rs1249629273 |
518 | G>R | No |
ClinGen TOPMed gnomAD |
|
CA369548903 rs1249629273 |
518 | G>R | No |
ClinGen TOPMed gnomAD |
|
CA4516148 rs199613316 |
520 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM1488294 CA4516149 rs781057568 |
521 | Q>H | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA369549952 rs1329952121 |
522 | R>G | No |
ClinGen gnomAD |
|
rs1274897815 CA369549969 |
523 | V>L | No |
ClinGen TOPMed |
|
CA4516150 rs745832779 |
525 | E>G | No |
ClinGen ExAC gnomAD |
|
rs1364547240 CA369549989 |
525 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA4516151 rs547137988 |
526 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs749098062 CA4516153 |
528 | L>P | No |
ClinGen ExAC gnomAD |
|
CA4516154 rs768352557 |
529 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs1489453017 CA369550052 |
530 | H>R | No |
ClinGen gnomAD |
|
CA369550070 rs199869285 |
532 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs202086095 CA369550072 |
532 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs202086095 CA4516156 |
532 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4516155 rs199869285 |
532 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1184631038 CA369550076 |
533 | A>D | No |
ClinGen gnomAD |
|
rs1419681846 CA369550075 |
533 | A>T | No |
ClinGen gnomAD |
|
rs139275171 CA4516158 |
535 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4516161 rs761270477 |
538 | D>H | No |
ClinGen ExAC gnomAD |
|
CA4516160 rs761270477 |
538 | D>N | No |
ClinGen ExAC gnomAD |
|
CA4516163 rs371820955 |
539 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4516165 rs752883985 |
540 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA168049958 rs1055593713 |
541 | G>R | No |
ClinGen Ensembl |
|
rs1585854031 CA369550132 |
542 | F>V | No |
ClinGen Ensembl |
|
rs764159638 CA4516168 |
545 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4516167 rs764159638 |
545 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1293706165 CA369550180 |
548 | M>I | No |
ClinGen gnomAD |
|
rs756029213 CA4516169 |
548 | M>R | No |
ClinGen ExAC gnomAD |
|
rs1323246248 CA369550183 |
549 | L>M | No |
ClinGen gnomAD |
|
CA168050009 rs995192758 |
550 | V>M | No |
ClinGen Ensembl |
|
rs200911610 CA369550200 |
552 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs200911610 CA4516170 |
552 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs144927279 CA4516173 |
556 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs780896232 CA4516174 |
557 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs369695176 CA168050045 |
559 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
CA369550252 rs1188859331 |
560 | L>V | No |
ClinGen gnomAD |
|
CA369550268 rs1416447074 |
562 | K>M | No |
ClinGen gnomAD |
|
rs1266609641 CA369550265 |
562 | K>Q | No |
ClinGen gnomAD |
|
rs1209624480 CA369550288 |
563 | L>R | No |
ClinGen gnomAD |
|
COSM1755127 CA369550291 rs1181261291 |
564 | H>Y | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA4516206 COSM1548510 rs561363159 |
567 | S>R | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
COSM1548510 CA4516207 rs192475820 |
567 | S>R | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
COSM1548510 CA369550314 rs192475820 |
567 | S>R | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs759406238 CA4516208 |
570 | S>C | No |
ClinGen ExAC gnomAD |
|
rs1412420614 CA369550370 |
576 | L>M | No |
ClinGen gnomAD |
|
rs932557927 CA168051110 |
576 | L>P | No |
ClinGen Ensembl |
|
rs1174865986 CA578278840 |
577 | M>T | No |
ClinGen gnomAD |
|
CA369550392 rs1458562939 |
579 | H>L | No |
ClinGen gnomAD |
|
rs1288142337 CA369551737 |
581 | V>L | No |
ClinGen gnomAD |
|
CA369551778 rs1161383696 |
583 | L>I | No |
ClinGen TOPMed |
|
rs1471731500 CA369551820 |
585 | S>T | No |
ClinGen TOPMed |
|
rs767264371 CA4516238 |
586 | N>S | No |
ClinGen ExAC gnomAD |
|
rs199846947 CA168054493 |
587 | F>S | No |
ClinGen Ensembl |
|
CA4516239 rs749867364 |
589 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1224449199 CA369551918 |
590 | I>T | No |
ClinGen gnomAD |
|
rs531392135 CA4516240 |
591 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs780493274 CA4516241 |
594 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1179525120 CA369552030 |
596 | V>M | No |
ClinGen gnomAD |
|
CA168054565 rs373767559 |
598 | E>K | No |
ClinGen ESP |
|
rs200625749 CA4516243 |
602 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4516245 rs149060142 |
602 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs149060142 CA4516244 |
602 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs772181288 CA4516246 |
606 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1404666118 CA369552216 |
606 | P>T | No |
ClinGen gnomAD |
|
rs76105862 CA4516249 |
609 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs76105862 CA4516248 |
609 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4516251 rs1554491383 |
612 | E>G | No |
ClinGen Ensembl |
|
CA369552370 rs1203252353 |
613 | A>V | No |
ClinGen gnomAD |
|
rs141845048 CA4516254 |
614 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4516256 rs761704942 |
615 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761704942 CA369552403 |
615 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA369552427 rs1343596956 |
617 | F>Y | No |
ClinGen gnomAD |
|
rs1411475502 CA369552491 |
620 | T>M | No |
ClinGen TOPMed |
|
VAR_029994 rs1046515 CA4516259 |
622 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4516264 rs754286018 |
625 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
VAR_041419 CA4516265 rs55922126 |
626 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4516266 rs55922126 |
626 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4516268 rs758810980 |
627 | P>G | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q7Z695
3 regional properties for Q7Z695
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | ABC1 atypical kinase-like domain | 169 - 218 | IPR004147-1 |
domain | ABC1 atypical kinase-like domain | 293 - 526 | IPR004147-2 |
domain | ADCK2-like dom | 169 - 553 | IPR044095 |
1 GO annotations of cellular component
Name | Definition |
---|---|
integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
2 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
No GO annotations of biological process
Name | Definition |
---|---|
No GO annotations for biological process |
1 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q02981 | YPL109C | ABC1 family protein YPL109C, mitochondrial | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MVAPWRVSVR | VCLSHLRCFE | LRQGLSLLRP | SECPRDARLC | WLLLGTLPKV | VSLCGDVGEG |
70 | 80 | 90 | 100 | 110 | 120 |
APDVLSRRRV | RCSGAAGAGP | AESLPRAGPL | GGVFLHLRLW | LRAGALLVKF | FPLLLLYPLT |
130 | 140 | 150 | 160 | 170 | 180 |
YLAPSVSTLW | LHLLLKATET | SGPTYIKLGQ | WASTRRDLFS | EAFCAQFSKL | HVRVTPHPWT |
190 | 200 | 210 | 220 | 230 | 240 |
HTERFLRQAF | GDDWGSILSF | ENREPVGSGC | VAQVYKAYAN | TAFLETDSVQ | RLGRASCLPP |
250 | 260 | 270 | 280 | 290 | 300 |
FSHTGAVGGL | RELFGYLGNG | RKPPENLADQ | SFLERLLLPK | ADLVGSNAGV | SRAQVPGHQP |
310 | 320 | 330 | 340 | 350 | 360 |
EATNLISVAV | KVLHPGLLAQ | VHMDLLLMKI | GSRVLGVLPG | IKWLSLPEIV | EEFEKLMVQQ |
370 | 380 | 390 | 400 | 410 | 420 |
IDLRYEAQNL | EHFQVNFRNV | KAVKFPTPLR | PFVTREVLVE | TYEESVPVSS | YQQAGIPVDL |
430 | 440 | 450 | 460 | 470 | 480 |
KRKIARLGIN | MLLKMIFVDN | FVHADLHPGN | ILVQGANGLS | SSQEAQLQQA | DICDTLVVAV |
490 | 500 | 510 | 520 | 530 | 540 |
PSSLCPLRLV | LLDAGIVAEL | QAPDLRNFRA | VFMAVVMGQG | QRVAELILHH | ARASECRDVE |
550 | 560 | 570 | 580 | 590 | 600 |
GFKTEMAMLV | TQARKNTITL | EKLHVSSLLS | SVFKLLMTHK | VKLESNFASI | VFAIMVLEGL |
610 | 620 | ||||
GRSLDPKLDI | LEAARPFLLT | GPVCPP |