A6NCM1
PR
Gene name |
IQCA1L (IQCA1P1) |
Protein name |
IQ and AAA domain-containing protein 1-like |
Names |
IQ and AAA domain-containing protein 1 pseudogene 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:392843 |
EC number |
|
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
No accessory elements
Autoinhibited structure
Activated structure
1 structures for A6NCM1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-A6NCM1-F1 | Predicted | AlphaFoldDB |
522 variants for A6NCM1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1303165803 CA370031307 |
3 | E>K | No |
ClinGen TOPMed |
|
|
CA370031282 rs1331434426 |
4 | G>E | No |
ClinGen TOPMed |
|
|
rs907254380 CA169102663 |
5 | A>T | No |
ClinGen TOPMed |
|
|
rs1563596272 CA370031202 |
6 | Y>D | No |
ClinGen Ensembl |
|
|
rs1584829674 CA370031198 |
6 | Y>S | No |
ClinGen Ensembl |
|
|
CA370031185 rs1458391153 |
7 | Q>* | No |
ClinGen gnomAD |
|
|
rs568217081 CA370031160 |
8 | R>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA169102654 rs568217081 |
8 | R>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs61751927 CA12621960 |
8 | R>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA370031153 rs974959086 |
9 | L>I | No |
ClinGen TOPMed |
|
|
rs974959086 CA169102647 |
9 | L>V | No |
ClinGen TOPMed |
|
|
rs1584829664 CA370031063 |
14 | H>P | No |
ClinGen Ensembl |
|
|
CA370031037 rs1462367981 |
16 | T>P | No |
ClinGen TOPMed |
|
|
rs1462367981 CA370031035 |
16 | T>S | No |
ClinGen TOPMed |
|
|
rs942165082 CA169102643 |
18 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1438307792 CA370030946 |
22 | D>N | No |
ClinGen TOPMed |
|
|
rs1054745599 CA169102629 |
23 | Q>R | No |
ClinGen TOPMed |
|
|
rs1335894649 CA370030888 |
25 | Q>* | No |
ClinGen TOPMed |
|
|
rs983660365 CA169102615 |
25 | Q>H | No |
ClinGen TOPMed |
|
|
rs909477123 CA169102620 |
25 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs977086709 CA169102613 |
26 | L>V | No |
ClinGen TOPMed |
|
|
rs1024961961 CA169102598 |
30 | P>S | No |
ClinGen TOPMed |
|
|
rs1024961961 CA370030818 |
30 | P>T | No |
ClinGen TOPMed |
|
|
rs1584829621 CA370030804 |
31 | A>T | No |
ClinGen Ensembl |
|
|
rs922317655 CA169102592 |
33 | D>N | No |
ClinGen TOPMed |
|
|
rs746156167 CA370030758 |
34 | R>G | No |
ClinGen TOPMed |
|
|
CA370030748 rs1239230895 |
34 | R>L | No |
ClinGen TOPMed |
|
|
CA370030756 rs746156167 |
34 | R>W | No |
ClinGen TOPMed |
|
|
rs1209685866 CA370030743 |
35 | E>K | No |
ClinGen Ensembl |
|
|
CA370030719 rs1164794546 |
36 | R>P | No |
ClinGen TOPMed |
|
|
rs1416205972 CA370030631 |
41 | Y>C | No |
ClinGen TOPMed |
|
|
CA370030587 rs1352936858 |
44 | A>P | No |
ClinGen gnomAD |
|
|
rs1467499574 CA370030559 |
46 | L>P | No |
ClinGen TOPMed |
|
|
rs1259426710 CA370030553 |
47 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA370030554 rs1259426710 |
47 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA370030533 rs1584829584 |
50 | Y>S | No |
ClinGen Ensembl |
|
|
rs1001375598 CA169102565 |
55 | R>C | No |
ClinGen TOPMed |
|
|
CA370030483 rs1001375598 |
55 | R>G | No |
ClinGen TOPMed |
|
|
CA370030477 rs1415371315 |
55 | R>H | No |
ClinGen TOPMed |
|
|
rs963882501 CA169102562 |
56 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs984470460 CA169102534 |
58 | D>N | No |
ClinGen TOPMed |
|
|
CA370030394 rs1381540293 |
60 | V>A | No |
ClinGen gnomAD |
|
|
rs1584829556 CA370030381 |
61 | Y>C | No |
ClinGen Ensembl |
|
|
CA370030386 rs1563596055 |
61 | Y>H | No |
ClinGen Ensembl |
|
|
rs1584829552 CA370030363 |
62 | D>A | No |
ClinGen Ensembl |
|
|
rs184160983 CA169102524 |
67 | P>S | No |
ClinGen 1000Genomes TOPMed |
|
|
rs184160983 CA370030279 |
67 | P>T | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1026744962 CA169102521 |
68 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA370030220 rs1584829541 |
70 | R>Q | No |
ClinGen Ensembl |
|
|
CA370030211 rs1436576821 |
71 | R>Q | No |
ClinGen gnomAD |
|
|
rs993477707 CA169102520 |
75 | R>H | No |
ClinGen TOPMed |
|
|
CA169102519 rs1021589540 |
78 | D>E | No |
ClinGen TOPMed |
|
|
CA370030123 rs1187942739 |
78 | D>H | No |
ClinGen TOPMed |
|
|
CA169102515 rs907282075 |
79 | G>S | No |
ClinGen TOPMed |
|
|
CA370030084 rs552130984 |
80 | V>A | No |
ClinGen 1000Genomes TOPMed |
|
|
CA169102513 rs552130984 |
80 | V>G | No |
ClinGen 1000Genomes TOPMed |
|
|
CA370030063 rs1370173529 |
82 | G>S | No |
ClinGen gnomAD |
|
|
rs1443811165 CA370030046 |
84 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA370029997 rs1376803704 |
87 | L>P | No |
ClinGen TOPMed |
|
|
CA370029975 rs1434789028 |
88 | K>R | No |
ClinGen TOPMed |
|
|
CA370029942 rs1189468958 |
90 | E>A | No |
ClinGen gnomAD |
|
|
rs1353494196 CA370029947 |
90 | E>K | No |
ClinGen TOPMed |
|
|
CA370029945 rs1353494196 |
90 | E>Q | No |
ClinGen TOPMed |
|
|
CA370029908 rs1449012805 |
92 | V>G | No |
ClinGen gnomAD |
|
|
CA370029898 rs1296061639 |
93 | R>C | No |
ClinGen TOPMed |
|
|
rs1584829498 CA370029890 |
93 | R>P | No |
ClinGen Ensembl |
|
|
CA370029905 rs1296061639 |
93 | R>S | No |
ClinGen TOPMed |
|
|
rs1282723964 CA370029869 |
94 | A>D | No |
ClinGen TOPMed |
|
|
CA169102512 rs1010141675 |
94 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA370029863 rs1348776759 |
95 | D>N | No |
ClinGen TOPMed |
|
|
rs1278216030 CA835249959 |
97 | C>* | No |
ClinGen TOPMed |
|
|
CA169102507 rs762110255 |
98 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA169102511 rs762110255 |
98 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA370029765 rs1584829483 |
99 | N>K | No |
ClinGen Ensembl |
|
|
rs1051454715 CA169102505 |
102 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA370029699 rs1489078417 |
102 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1427091171 CA370029662 |
103 | D>E | No |
ClinGen TOPMed |
|
|
CA370029655 rs1226246802 |
104 | R>G | No |
ClinGen Ensembl |
|
|
CA169102504 rs997570496 |
104 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA169102503 rs900254245 |
107 | Q>H | No |
ClinGen TOPMed |
|
|
CA370029561 rs310583 |
109 | F>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1298880765 CA370029549 |
109 | F>L | No |
ClinGen gnomAD |
|
|
CA12488684 rs310583 |
109 | F>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs310583 CA370029559 |
109 | F>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA370029520 rs1229152547 |
111 | L>F | No |
ClinGen gnomAD |
|
|
CA370029498 rs1324365869 |
112 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA169101811 rs951735977 |
115 | D>A | No |
ClinGen TOPMed |
|
|
CA370029330 rs951735977 |
115 | D>G | No |
ClinGen TOPMed |
|
|
rs965600562 CA169101808 |
117 | E>K | No |
ClinGen TOPMed |
|
|
rs1239906790 CA370029287 |
118 | V>I | No |
ClinGen TOPMed |
|
|
rs1007087211 CA169101802 |
120 | I>V | No |
ClinGen TOPMed |
|
|
CA169101801 rs768377110 |
131 | T>I | No |
ClinGen TOPMed |
|
|
rs768377110 CA370029033 |
131 | T>S | No |
ClinGen TOPMed |
|
|
CA370029010 rs1362966972 |
133 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1362966972 CA370029012 |
133 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs888147228 CA169101784 |
133 | R>W | No |
ClinGen TOPMed |
|
|
CA370029004 rs1584828935 |
134 | E>Q | No |
ClinGen Ensembl |
|
|
CA169101778 rs531472135 |
135 | R>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs531472135 CA169101779 |
135 | R>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs918908691 CA169101777 |
135 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA370028978 rs1345070540 |
137 | L>P | No |
ClinGen gnomAD |
|
|
CA169101773 rs993949140 |
138 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1410694550 CA370028975 |
138 | I>V | No |
ClinGen TOPMed |
|
|
CA370028969 rs1166730855 |
139 | L>V | No |
ClinGen TOPMed |
|
|
CA169101771 rs562525628 |
140 | A>P | No |
ClinGen 1000Genomes |
|
|
rs752791592 CA169101747 |
141 | E>D | No |
ClinGen TOPMed |
|
|
rs960757605 CA169101763 |
141 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs960757605 CA169101767 |
141 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA370028937 rs1376200183 |
142 | I>F | No |
ClinGen TOPMed |
|
|
rs1428727607 CA370028902 |
145 | R>G | No |
ClinGen gnomAD |
|
|
CA370028883 rs1348782536 |
146 | L>M | No |
ClinGen TOPMed |
|
|
CA370028846 rs1235356907 |
148 | P>T | No |
ClinGen TOPMed |
|
|
rs755939837 CA169101734 |
153 | K>Q | No |
ClinGen Ensembl |
|
|
CA370028752 rs1274097751 |
153 | K>R | No |
ClinGen TOPMed |
|
|
CA370028631 rs1465600419 |
154 | S>N | No |
ClinGen TOPMed |
|
|
rs1563594736 CA370028642 |
154 | S>R | No |
ClinGen Ensembl |
|
|
CA370028586 rs1177525312 |
156 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs150971540 CA169101527 |
157 | G>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA370028558 rs1253229190 |
158 | M>T | No |
ClinGen gnomAD |
|
|
rs1455970728 CA370028566 |
158 | M>V | No |
ClinGen TOPMed |
|
|
CA169101521 rs61732479 |
160 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1202675029 CA370028517 |
160 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1412887619 CA370028471 |
163 | A>T | No |
ClinGen TOPMed |
|
|
rs142627860 CA169101517 |
163 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA370028447 rs1225456832 |
164 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs748041457 CA169101497 |
167 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA169101484 rs901170342 |
168 | Q>R | No |
ClinGen Ensembl |
|
|
rs61732543 CA12621956 |
170 | A>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs61732543 CA370028337 |
170 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA169101468 rs140068949 |
172 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA370028301 rs1375969827 |
172 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA370028285 rs531089205 |
173 | A>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs531089205 CA169101465 |
173 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs985564944 CA169101443 |
177 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs551958848 CA169101447 |
177 | R>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA169101437 rs553177595 |
179 | R>* | No |
ClinGen 1000Genomes TOPMed |
|
|
CA370028187 rs201062407 |
179 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA169101436 rs201062407 |
179 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1157296479 CA370028178 |
180 | A>S | No |
ClinGen TOPMed |
|
|
rs778037854 CA169101415 |
183 | M>L | No |
ClinGen TOPMed |
|
|
CA370028122 rs1420864541 |
183 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs559927717 CA169101411 |
184 | R>G | No |
ClinGen 1000Genomes |
|
|
CA370028104 rs1248115899 |
184 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1176457737 CA370028053 |
187 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs961362070 CA169101393 |
187 | R>Q | No |
ClinGen TOPMed |
|
|
rs540214468 CA169101381 |
188 | R>T | No |
ClinGen 1000Genomes |
|
|
CA169101374 rs1024627869 |
192 | Q>K | No |
ClinGen TOPMed |
|
|
rs1563594480 CA370027915 |
194 | G>E | No |
ClinGen Ensembl |
|
|
rs61733346 CA12621954 |
194 | G>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1205568521 CA370027910 |
195 | R>G | No |
ClinGen gnomAD |
|
|
CA169101369 rs866523270 |
195 | R>K | No |
ClinGen Ensembl |
|
|
rs560802892 CA169101362 |
197 | R>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs560802892 CA169101366 |
197 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1460048520 CA370027875 |
197 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA169101359 rs544010056 |
198 | E>Q | No |
ClinGen 1000Genomes |
|
|
rs1450405058 CA370027836 |
199 | D>A | No |
ClinGen TOPMed |
|
|
rs1289729714 CA370027840 |
199 | D>Y | No |
ClinGen TOPMed |
|
|
CA370027790 rs1584828606 |
201 | W>* | No |
ClinGen Ensembl |
|
|
CA169101358 rs956886134 |
204 | F>I | No |
ClinGen Ensembl |
|
|
rs199771708 CA169101357 |
209 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA169101353 rs977011052 |
214 | Q>K | No |
ClinGen TOPMed |
|
|
rs965786355 CA169101348 |
214 | Q>L | No |
ClinGen TOPMed |
|
|
rs1457362789 CA370027200 |
217 | W>* | No |
ClinGen gnomAD |
|
|
CA169100055 rs769252623 |
219 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA169100062 rs769252623 |
219 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1270598469 CA370027188 |
219 | G>R | No |
ClinGen TOPMed |
|
|
CA370027172 rs1563592584 |
222 | Q>K | No |
ClinGen Ensembl |
|
|
CA169100048 rs948163961 |
223 | R>S | No |
ClinGen TOPMed |
|
|
rs73169636 CA169100041 |
225 | R>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA169100037 rs971585411 |
225 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA370027138 rs1373209997 |
227 | Q>* | No |
ClinGen TOPMed |
|
|
CA370027124 rs1165839207 |
229 | D>N | No |
ClinGen TOPMed |
|
|
rs1336592497 CA370027113 |
230 | R>Q | No |
ClinGen TOPMed |
|
|
CA169100033 rs184538177 |
230 | R>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1013162291 CA169100032 |
231 | R>* | No |
ClinGen TOPMed |
|
|
rs1374984518 CA370027100 |
232 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA169099225 rs915551753 |
241 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA370026871 rs1488106937 |
245 | Q>* | No |
ClinGen TOPMed |
|
|
rs1222551062 CA370026867 |
245 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1039259202 CA169099223 |
246 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA169099221 rs539207892 |
248 | H>Y | No |
ClinGen 1000Genomes |
|
|
rs1227836830 CA370026795 |
250 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs7458773 CA169099218 |
254 | Q>H | No |
ClinGen Ensembl |
|
|
rs1378102407 CA370026747 |
254 | Q>R | No |
ClinGen TOPMed |
|
|
rs1406803968 CA370026737 |
255 | P>S | No |
ClinGen TOPMed |
|
|
rs1319126078 CA370026709 |
257 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA169099201 rs924461881 |
258 | V>E | No |
ClinGen TOPMed |
|
|
rs547548167 CA169099206 |
258 | V>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs536420323 CA169099178 |
265 | R>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1438140439 CA370026592 |
265 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs548170231 CA169099172 |
267 | M>I | No |
ClinGen 1000Genomes |
|
|
CA370026567 rs1347790571 |
267 | M>L | No |
ClinGen gnomAD |
|
|
rs61744609 CA169099166 |
268 | E>D | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA370026540 rs1465703634 |
269 | K>E | No |
ClinGen gnomAD |
|
|
CA169099162 rs562995655 |
272 | E>G | No |
ClinGen 1000Genomes |
|
|
rs1290295083 CA370026482 |
273 | F>L | No |
ClinGen TOPMed |
|
|
CA169099140 rs1034289090 |
274 | R>Q | No |
ClinGen TOPMed |
|
|
CA169099153 rs188003441 |
274 | R>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA169099137 rs532564493 |
275 | A>G | No |
ClinGen 1000Genomes |
|
|
rs1457770680 CA370026428 |
277 | M>I | No |
ClinGen TOPMed |
|
|
rs980412749 CA169099133 |
277 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA370026396 rs1177462964 |
280 | A>P | No |
ClinGen TOPMed |
|
|
CA370026386 rs1235890716 |
280 | A>V | No |
ClinGen TOPMed |
|
|
rs964765445 CA169099129 |
281 | H>R | No |
ClinGen TOPMed |
|
|
rs968635878 CA169099126 |
283 | S>Y | No |
ClinGen Ensembl |
|
|
CA169099120 rs1006320863 |
285 | V>I | No |
ClinGen TOPMed |
|
|
CA370026288 rs1563590946 |
288 | E>* | No |
ClinGen Ensembl |
|
|
CA370026269 rs1401653250 |
289 | G>E | No |
ClinGen TOPMed |
|
|
rs993707249 CA169099111 |
292 | M>K | No |
ClinGen TOPMed |
|
|
rs1009864984 CA169099109 |
293 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs891555159 CA169099105 |
295 | K>N | No |
ClinGen Ensembl |
|
|
CA169099099 rs541155625 |
296 | M>I | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1013569919 CA169099097 |
297 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs565953027 CA169099096 |
298 | E>G | No |
ClinGen Ensembl |
|
|
rs1220850216 CA370026116 |
301 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA169099095 rs192381418 |
301 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA169099094 rs900662678 |
304 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs935761989 CA370026049 |
305 | I>M | No |
ClinGen TOPMed |
|
|
rs145108158 CA169099080 |
306 | E>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA370026022 rs1255556724 |
307 | C>F | No |
ClinGen TOPMed |
|
|
CA370026016 rs1317886293 |
308 | H>Y | No |
ClinGen gnomAD |
|
|
rs1018471345 CA169098705 |
309 | D>N | No |
ClinGen TOPMed |
|
|
CA169098694 rs755991090 |
311 | T>I | No |
ClinGen Ensembl |
|
|
CA169098688 rs560799870 |
313 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1295302705 CA370025474 |
313 | R>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 315 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA169098684 rs888301686 |
319 | D>A | No |
ClinGen TOPMed |
|
|
CA370025431 rs888301686 |
319 | D>V | No |
ClinGen TOPMed |
|
|
CA169098683 rs542728195 |
320 | A>V | No |
ClinGen Ensembl |
|
|
rs539992661 CA169098675 |
321 | S>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA169098632 rs975731185 |
325 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs777147588 CA169098615 |
328 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA169098610 rs574603220 |
330 | A>V | No |
ClinGen 1000Genomes |
|
|
rs1433367027 CA370025350 |
332 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA370025343 rs879200200 |
333 | T>K | No |
ClinGen TOPMed |
|
|
CA169098606 rs879200200 |
333 | T>M | No |
ClinGen TOPMed |
|
|
CA169098604 rs770938116 |
336 | Q>* | No |
ClinGen TOPMed |
|
|
rs554322847 CA169098168 |
340 | E>Q | No |
ClinGen 1000Genomes |
|
|
rs1024778631 CA169098163 |
340 | E>V | No |
ClinGen TOPMed |
|
|
rs1279087944 CA370025242 |
345 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs755684749 CA169098136 |
347 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA169098125 rs1036096648 |
350 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs142282280 CA169098117 |
353 | Q>* | No |
ClinGen 1000Genomes |
|
|
CA370025181 rs1260066313 |
354 | E>K | No |
ClinGen TOPMed |
|
|
CA169098113 rs372041557 |
359 | K>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA370025055 rs1191386421 |
370 | K>T | No |
ClinGen TOPMed |
|
|
rs1401656405 CA370025050 |
371 | E>K | No |
ClinGen TOPMed |
|
|
rs981324961 CA169098101 |
375 | K>E | No |
ClinGen Ensembl |
|
|
CA169098096 rs969671241 |
377 | G>R | No |
ClinGen TOPMed |
|
|
CA169097970 rs114822095 |
379 | V>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA370024942 rs114822095 |
379 | V>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA169097964 rs930996650 |
381 | A>T | No |
ClinGen TOPMed |
|
|
CA169097960 rs939102442 |
381 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs927661475 CA169097931 |
382 | V>M | No |
ClinGen TOPMed |
|
|
CA169097922 rs773938788 |
383 | L>F | No |
ClinGen Ensembl |
|
|
CA169097915 rs190659543 |
386 | L>* | No |
ClinGen 1000Genomes |
|
|
CA370024805 rs1291959424 |
387 | P>A | No |
ClinGen gnomAD |
|
|
CA169097913 rs75273570 |
388 | S>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs73727109 CA169097905 |
391 | I>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1231488377 CA370024676 |
392 | P>L | No |
ClinGen TOPMed |
|
|
CA370024658 rs1428159782 |
393 | M>T | No |
ClinGen gnomAD |
|
|
rs200397573 CA169097903 |
393 | M>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA169097902 rs959459626 |
394 | I>V | No |
ClinGen TOPMed |
|
|
CA169097899 rs956921839 |
397 | G>R | No |
ClinGen TOPMed |
|
|
CA169097898 rs747078273 |
398 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs937730609 CA169097556 |
405 | W>R | No |
ClinGen TOPMed |
|
|
rs1259402665 CA370024213 |
406 | K>R | No |
ClinGen TOPMed |
|
|
CA12488682 rs310586 |
407 | N>D | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA370024193 rs310586 |
407 | N>Y | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA370024152 rs1253394419 |
408 | R>Q | No |
ClinGen TOPMed |
|
|
CA169097551 rs138481270 |
408 | R>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1193366429 CA370024068 |
412 | I>L | No |
ClinGen TOPMed |
|
|
CA169097541 rs563809243 CA169097547 |
413 | H>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1014876117 CA169097550 |
413 | H>R | No |
ClinGen Ensembl |
|
|
CA370024036 rs1359506758 |
413 | H>Y | No |
ClinGen gnomAD |
|
|
CA169097525 rs988452606 |
414 | P>T | No |
ClinGen TOPMed |
|
|
rs538891713 CA169097519 |
415 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA169097488 rs546178556 |
421 | E>K | No |
ClinGen 1000Genomes TOPMed |
|
|
rs368510202 CA169097476 |
424 | R>L | No |
ClinGen TOPMed |
|
|
rs368510202 CA169097481 |
424 | R>Q | No |
ClinGen TOPMed |
|
|
rs752523494 CA169097484 |
424 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1236811352 CA370023708 |
426 | E>* | No |
ClinGen TOPMed |
|
|
CA370023705 rs1236811352 |
426 | E>K | No |
ClinGen TOPMed |
|
|
rs879556847 CA169097453 |
436 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA169097449 rs1008453672 |
436 | R>Q | No |
ClinGen TOPMed |
|
|
CA169097450 rs879556847 |
436 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA169097444 rs890005427 |
438 | Q>P | No |
ClinGen Ensembl |
|
|
rs1042281024 CA169096765 |
440 | D>N | No |
ClinGen TOPMed |
|
|
CA370021908 rs1584824738 |
441 | E>K | No |
ClinGen Ensembl |
|
|
rs551614285 CA370021847 CA169096756 |
443 | M>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1448044918 CA370021864 |
443 | M>V | No |
ClinGen TOPMed |
|
|
CA169096754 rs762341025 |
444 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs912236014 CA169096753 |
444 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA169096742 rs921002504 |
449 | K>M | No |
ClinGen Ensembl |
|
|
CA370021697 rs1320128439 |
450 | L>F | No |
ClinGen TOPMed |
|
|
CA169096738 rs578160820 |
450 | L>P | No |
ClinGen Ensembl |
|
|
rs879722190 CA169096732 |
451 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA169096724 rs561342414 |
451 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA370021580 rs1303198112 |
455 | D>E | No |
ClinGen TOPMed |
|
|
rs1584824704 CA370021590 |
455 | D>G | No |
ClinGen Ensembl |
|
|
rs566199914 CA169096722 |
455 | D>N | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 457 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867505516 CA169096718 |
458 | E>K | No |
ClinGen Ensembl |
|
|
rs75737896 CA169096713 |
459 | E>G | No |
ClinGen 1000Genomes TOPMed |
|
|
CA835244569 rs1232479272 |
459 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 467 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs61733954 CA12550938 |
471 | K>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1348701264 CA370021067 |
475 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA370020990 rs1584824566 |
478 | E>G | No |
ClinGen Ensembl |
|
|
CA370020963 rs1279481846 |
480 | D>N | No |
ClinGen gnomAD |
|
|
rs147501782 CA169096022 |
487 | V>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA370020641 rs1472955836 |
488 | E>Q | No |
ClinGen TOPMed |
|
|
CA370020627 rs1584824124 |
489 | S>P | No |
ClinGen Ensembl |
|
|
CA370020572 rs1563586484 |
492 | E>K | No |
ClinGen Ensembl |
|
|
CA169096018 rs900797027 |
495 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1166595403 CA370020401 |
498 | G>D | No |
ClinGen TOPMed |
|
|
rs909833008 CA169095990 |
499 | L>F | No |
ClinGen Ensembl |
|
|
CA12640895 rs6952465 |
500 | L>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA370020370 rs6952465 |
500 | L>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA169095980 rs765205910 |
502 | K>R | No |
ClinGen TOPMed |
|
|
rs1318256918 CA370020290 |
504 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1370676166 CA370020251 |
505 | S>L | No |
ClinGen TOPMed |
|
|
CA370020206 rs1229682415 |
507 | A>T | No |
ClinGen TOPMed |
|
|
rs1047485595 CA169095966 |
511 | Y>C | No |
ClinGen TOPMed |
|
|
rs1017886227 CA169095889 |
517 | Y>C | No |
ClinGen TOPMed |
|
|
CA169095885 rs764223780 |
524 | L>S | No |
ClinGen Ensembl |
|
|
rs918494738 CA169095867 |
529 | P>R | No |
ClinGen TOPMed |
|
|
rs1404832439 CA370018427 |
536 | I>T | No |
ClinGen TOPMed |
|
|
CA370018416 rs1467935203 |
537 | R>* | No |
ClinGen TOPMed |
|
|
rs1418976090 CA370018413 |
537 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA370018371 rs1327401719 |
539 | N>S | No |
ClinGen TOPMed |
|
|
CA370018339 rs1473985550 |
541 | A>S | No |
ClinGen gnomAD |
|
|
CA169095858 rs906980737 |
542 | L>F | No |
ClinGen TOPMed |
|
|
rs148216014 CA169095857 |
544 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA370018226 rs1262625090 |
545 | V>D | No |
ClinGen TOPMed |
|
|
rs1563586206 CA370018243 |
545 | V>I | No |
ClinGen Ensembl |
|
|
rs1001243785 CA169095837 |
547 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1034398995 CA169095850 |
547 | R>W | No |
ClinGen Ensembl |
|
|
rs78405807 CA169095831 |
549 | G>C | No |
ClinGen Ensembl |
|
|
CA370018075 rs1470756573 |
549 | G>D | No |
ClinGen TOPMed |
|
|
CA370018046 rs1563585586 |
551 | P>L | No |
ClinGen Ensembl |
|
|
rs1382478312 CA370018028 |
552 | D>G | No |
ClinGen TOPMed |
|
|
CA370018002 rs1282484603 |
553 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs773013202 CA169095519 |
554 | H>N | No |
ClinGen Ensembl |
|
|
rs1272398740 CA370017981 |
554 | H>Q | No |
ClinGen TOPMed |
|
|
rs371303404 CA169095517 |
555 | I>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA169095516 rs1056993672 |
556 | M>T | No |
ClinGen TOPMed |
|
|
rs1584823568 CA370017915 |
557 | A>V | No |
ClinGen Ensembl |
|
|
CA169095515 rs1003102443 |
561 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs903021956 CA169095514 |
561 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1044283499 CA169095508 |
562 | S>C | No |
ClinGen TOPMed |
|
|
rs1262829278 CA370017852 |
562 | S>P | No |
ClinGen TOPMed |
|
|
rs914241102 CA169095500 |
567 | G>S | No |
ClinGen Ensembl |
|
|
CA370017733 rs1207816998 |
569 | S>F | No |
ClinGen TOPMed |
|
|
rs541041355 CA169095497 |
571 | M>I | No |
ClinGen 1000Genomes |
|
|
rs1243730572 CA370017675 |
572 | G>E | No |
ClinGen TOPMed |
|
|
CA370017576 rs1185366050 |
577 | V>F | No |
ClinGen TOPMed |
|
|
CA370017556 rs1584823539 |
578 | K>M | No |
ClinGen Ensembl |
|
|
CA169095494 rs543126601 |
582 | T>R | No |
ClinGen 1000Genomes |
|
|
CA370017461 rs1288149170 |
583 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs998422748 CA169095487 |
584 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs183305807 CA169095479 |
586 | A>T | No |
ClinGen 1000Genomes TOPMed |
|
|
rs541789382 CA169095478 |
588 | L>P | No |
ClinGen 1000Genomes |
|
|
CA169095476 rs369005682 |
590 | D>E | No |
ClinGen Ensembl |
|
|
rs1346266602 CA370017335 |
590 | D>N | No |
ClinGen TOPMed |
|
|
rs965239520 CA169095468 |
592 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1430648241 CA370017295 |
592 | S>P | No |
ClinGen TOPMed |
|
|
CA370017277 rs1413405386 |
593 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs767934541 CA169095460 |
594 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1217225965 CA370017265 |
595 | N>S | No |
ClinGen TOPMed |
|
|
rs1447456420 CA370017250 |
598 | G>C | No |
ClinGen TOPMed |
|
|
CA370017231 rs1410903902 |
600 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1214963909 CA370017236 |
600 | Y>H | No |
ClinGen TOPMed |
|
|
CA370017232 rs1563585400 |
600 | Y>S | No |
ClinGen Ensembl |
|
|
rs1188398693 CA370017141 |
609 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA370017114 rs1475626110 |
611 | H>R | No |
ClinGen gnomAD |
|
|
CA169095450 rs985045914 |
612 | I>T | No |
ClinGen TOPMed |
|
|
rs1428102479 CA370017102 |
612 | I>V | No |
ClinGen TOPMed |
|
|
rs1170786689 CA370016927 |
618 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1447695824 CA370016922 |
618 | R>Q | No |
ClinGen gnomAD |
|
|
CA370016918 rs1487102121 |
619 | L>F | No |
ClinGen TOPMed |
|
|
CA169095197 rs559902746 |
622 | P>L | No |
ClinGen 1000Genomes |
|
|
rs1206224854 CA370016860 |
622 | P>T | No |
ClinGen TOPMed |
|
|
rs578080936 CA169095194 |
630 | A>T | No |
ClinGen Ensembl |
|
|
CA370016643 rs1487337123 |
631 | E>A | No |
ClinGen TOPMed |
|
|
rs1554479269 CA370016547 |
634 | F>L | No |
ClinGen Ensembl |
|
|
CA169095188 rs200095758 |
635 | Y>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs200095758 CA169095190 |
635 | Y>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs978482790 CA169095185 |
636 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA169095184 rs140380576 |
636 | K>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs554669669 CA169095183 |
637 | K>N | No |
ClinGen 1000Genomes |
|
|
rs967433934 CA169095179 |
638 | T>N | No |
ClinGen TOPMed |
|
|
rs888857641 CA169095177 |
639 | P>T | No |
ClinGen Ensembl |
|
|
rs1221317062 CA370016403 |
640 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1221317062 CA370016399 |
640 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA370016341 rs1563584873 |
642 | D>H | No |
ClinGen Ensembl |
|
|
CA169095166 rs538200341 |
644 | E>V | No |
ClinGen 1000Genomes |
|
|
CA370016148 rs1179551322 |
645 | M>L | No |
ClinGen TOPMed |
|
|
CA370016152 rs1179551322 |
645 | M>V | No |
ClinGen TOPMed |
|
|
rs888908285 CA169095039 |
647 | P>L | No |
ClinGen Ensembl |
|
|
CA370016011 rs17173724 |
649 | R>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA169095033 rs17173724 |
649 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA370015880 rs897991492 |
653 | D>A | No |
ClinGen TOPMed |
|
|
CA370015867 rs1408159542 |
653 | D>E | No |
ClinGen gnomAD |
|
|
rs897991492 CA169095029 |
653 | D>V | No |
ClinGen TOPMed |
|
|
CA370015818 rs1359020492 |
656 | K>E | No |
ClinGen TOPMed |
|
|
CA370015749 rs1313782456 |
657 | A>V | No |
ClinGen gnomAD |
|
|
rs370504674 CA169095012 |
659 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs539994585 CA169095025 |
659 | R>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA370015623 rs1175950785 |
662 | T>I | No |
ClinGen gnomAD |
|
|
rs1276516371 CA370015636 |
662 | T>S | No |
ClinGen TOPMed |
|
|
CA169095004 rs190953624 |
663 | P>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA370015618 rs190953624 |
663 | P>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA370015550 rs1584823080 |
664 | G>E | No |
ClinGen Ensembl |
|
|
CA370015579 rs1311450616 |
664 | G>R | No |
ClinGen TOPMed |
|
|
CA169094990 rs555734977 |
665 | D>N | No |
ClinGen Ensembl |
|
|
CA169094987 rs948052539 |
666 | R>C | No |
ClinGen Ensembl |
|
|
CA169094984 rs140846547 |
666 | R>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1243817695 CA370015485 |
667 | V>M | No |
ClinGen TOPMed |
|
|
CA169094983 rs575620071 |
668 | M>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA370015362 rs1584823067 |
670 | I>M | No |
ClinGen Ensembl |
|
|
rs989530641 CA169094982 |
670 | I>T | No |
ClinGen TOPMed |
|
|
rs1260535224 CA370015357 |
671 | G>R | No |
ClinGen TOPMed |
|
|
rs1584823063 CA370015302 |
673 | T>P | No |
ClinGen Ensembl |
|
|
CA169094979 rs962086091 |
675 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1413189585 CA370015246 |
675 | R>L | No |
ClinGen TOPMed |
|
|
rs1413189585 CA370015260 |
675 | R>Q | No |
ClinGen TOPMed |
|
|
CA169094974 rs962086091 |
675 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA169094966 rs956773989 |
677 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1361794309 CA370015152 |
677 | Q>H | No |
ClinGen TOPMed |
|
|
CA370015071 rs1481974733 |
680 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs377553056 CA169094957 |
682 | R>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA370015012 rs1216359859 |
682 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs377553056 CA169094961 |
682 | R>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA370014986 rs1343988601 |
683 | G>V | No |
ClinGen TOPMed |
|
|
CA370014960 rs1354359915 |
685 | C>Y | No |
ClinGen TOPMed |
|
|
CA169094945 rs566494326 |
686 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA169094948 rs533751633 |
686 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA169094936 rs1007266901 |
689 | E>K | No |
ClinGen TOPMed |
|
|
rs185218169 CA370014858 |
690 | R>G | No |
ClinGen 1000Genomes TOPMed |
|
|
rs946252876 CA169094924 |
690 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs185218169 CA169094933 |
690 | R>W | No |
ClinGen 1000Genomes TOPMed |
|
|
CA169094918 rs757500659 |
692 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA169094915 rs1040767420 |
694 | M>V | No |
ClinGen TOPMed |
|
|
rs1377007921 CA370013829 |
696 | R>Q | No |
ClinGen gnomAD |
|
|
CA370013833 rs1398058051 |
696 | R>W | No |
ClinGen gnomAD |
|
|
rs1406063905 CA370013722 |
701 | S>Y | No |
ClinGen TOPMed |
|
|
CA169094900 rs778408874 |
702 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1432027526 CA370013710 |
702 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1432027526 CA370013705 |
702 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1441381360 CA370013543 |
706 | W>R | No |
ClinGen TOPMed |
|
|
rs926552744 CA169094624 |
707 | K>E | No |
ClinGen TOPMed |
|
|
CA370013492 rs73478664 |
708 | R>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs73478664 CA169094620 |
708 | R>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs968730272 CA169094617 |
708 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs73478664 CA370013496 |
708 | R>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1584822789 CA370013414 |
711 | E>G | No |
ClinGen Ensembl |
|
|
CA370013372 rs1457108751 |
713 | R>Q | No |
ClinGen TOPMed |
|
|
rs1431277648 CA370013376 |
713 | R>W | No |
ClinGen gnomAD |
|
|
rs1584822769 CA370013336 |
715 | I>T | No |
ClinGen Ensembl |
|
|
CA169094615 rs970426199 |
716 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA169094613 rs565326179 |
717 | P>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA169094594 rs545374433 |
717 | P>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA169094596 rs545374433 |
717 | P>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs573588110 CA169094586 |
718 | T>N | No |
ClinGen 1000Genomes TOPMed |
|
|
rs894102778 CA169094581 |
719 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA169094569 rs1032590395 |
722 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1250997073 CA370013200 |
723 | I>F | No |
ClinGen gnomAD |
|
|
CA169094561 rs954309154 |
725 | A>T | No |
ClinGen TOPMed |
|
|
CA370013043 rs1183111083 |
728 | K>M | No |
ClinGen gnomAD |
|
|
CA169094558 rs553668236 |
729 | V>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA370013009 rs1237456588 |
729 | V>F | No |
ClinGen TOPMed |
|
|
CA169094552 rs902514740 |
731 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs868651071 CA169094551 |
732 | G>D | No |
ClinGen Ensembl |
|
|
rs61743980 CA169094550 |
734 | T>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA169094544 rs767987798 |
735 | P>L | No |
ClinGen TOPMed |
|
|
CA169094545 rs760381201 |
735 | P>S | No |
ClinGen Ensembl |
|
|
CA169094541 rs750269984 |
737 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1003879977 CA169094538 |
740 | Q>* | No |
ClinGen TOPMed |
|
|
CA370012655 rs1303997385 |
742 | I>M | No |
ClinGen TOPMed |
|
|
CA169094534 rs557263825 |
744 | S>L | No |
ClinGen 1000Genomes TOPMed |
|
|
CA169094532 rs761700043 |
746 | L>P | No |
ClinGen Ensembl |
|
|
rs537992863 CA169094529 |
747 | S>G | No |
ClinGen 1000Genomes |
|
|
CA370012540 rs1231769539 |
747 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA169094520 rs568567885 |
749 | R>W | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1056262418 CA169094514 |
750 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA370012459 rs1305611928 |
750 | R>W | No |
ClinGen TOPMed |
|
|
CA169094495 rs75627200 |
751 | F>V | No |
ClinGen Ensembl |
|
|
rs1482616395 CA370012415 |
752 | L>R | No |
ClinGen TOPMed |
|
|
CA370012420 rs1238023141 |
752 | L>V | No |
ClinGen TOPMed |
|
|
rs920544585 CA169094492 |
756 | K>* | No |
ClinGen Ensembl |
|
|
rs151272696 CA370012289 |
757 | R>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA169094488 rs907551362 |
757 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA169094489 rs151272696 |
757 | R>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1177401073 CA370012170 |
763 | E>K | No |
ClinGen TOPMed |
|
|
CA169094476 rs914553643 |
768 | L>V | No |
ClinGen TOPMed |
|
|
rs566453585 CA169094473 |
769 | V>M | No |
ClinGen 1000Genomes |
|
|
CA169094469 rs751898550 |
772 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA370010797 rs1399618983 |
773 | P>L | No |
ClinGen TOPMed |
|
|
rs1170689186 CA370010778 |
774 | V>A | No |
ClinGen gnomAD |
|
|
rs1364089558 CA370010748 |
775 | Y>* | No |
ClinGen gnomAD |
|
|
CA169094459 rs1023339833 |
776 | R>K | No |
ClinGen TOPMed |
|
|
rs1220760964 CA370010671 |
779 | E>G | No |
ClinGen TOPMed |
|
|
CA169094087 rs1022093752 |
784 | D>H | No |
ClinGen TOPMed |
|
|
rs550759989 CA169094079 |
785 | W>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA169094074 rs756401930 |
787 | F>L | No |
ClinGen Ensembl |
|
|
rs1303884083 CA370010304 |
789 | T>A | No |
ClinGen TOPMed |
|
|
CA370010298 rs1453752108 |
789 | T>I | No |
ClinGen gnomAD |
|
|
CA169094067 rs537207578 |
790 | P>L | No |
ClinGen 1000Genomes TOPMed |
|
|
rs537207578 CA370010277 |
790 | P>Q | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1301941596 CA370010220 |
793 | K>E | No |
ClinGen TOPMed |
|
|
CA370010073 rs1355921111 |
798 | H>Q | No |
ClinGen TOPMed |
|
|
CA169094058 rs571789960 |
801 | D>E | No |
ClinGen 1000Genomes |
|
|
CA370010004 rs912696574 |
802 | Q>* | No |
ClinGen TOPMed |
|
|
CA169094052 rs912696574 |
802 | Q>K | No |
ClinGen TOPMed |
|
|
CA169094050 rs892420705 |
803 | L>S | No |
ClinGen TOPMed |
|
|
CA370009798 rs1269195565 |
807 | E>G | No |
ClinGen TOPMed |
|
|
CA169094025 rs954251888 |
810 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs868518747 CA169094006 |
811 | D>N | No |
ClinGen Ensembl |
|
|
CA169094003 rs995491877 |
817 | R>K | No |
ClinGen Ensembl |
|
|
rs891109351 CA169094001 |
817 | R>S | No |
ClinGen TOPMed |
|
|
rs546517257 CA169094000 |
819 | K>R | No |
ClinGen gnomAD |
No associated diseases with A6NCM1
3 regional properties for A6NCM1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| binding_site | IQ motif, EF-hand binding site | 159 - 181 | IPR000048-1 |
| binding_site | IQ motif, EF-hand binding site | 205 - 235 | IPR000048-2 |
| domain | ATPase, AAA-type, core | 563 - 680 | IPR003959 |
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9VQN8 | CG3326 | Fidgetin-like protein 1 | Drosophila melanogaster (Fruit fly) | PR |
| O75351 | VPS4B | Vacuolar protein sorting-associated protein 4B | Homo sapiens (Human) | PR |
| Q9UN37 | VPS4A | Vacuolar protein sorting-associated protein 4A | Homo sapiens (Human) | EV |
| O75449 | KATNA1 | Katanin p60 ATPase-containing subunit A1 | Homo sapiens (Human) | PR |
| Q9UBP0 | SPAST | Spastin | Homo sapiens (Human) | PR |
| Q86XH1 | IQCA1 | Dynein regulatory complex protein 11 | Homo sapiens (Human) | PR |
| Q6PIW4 | FIGNL1 | Fidgetin-like protein 1 | Homo sapiens (Human) | PR |
| A6H690 | Iqca1l | IQ and AAA domain-containing protein 1-like | Mus musculus (Mouse) | PR |
| Q6AXQ7 | Iqca1l | IQ and AAA domain-containing protein 1-like | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSEGAYQRLW | ESSHATLQEL | LDQEQLLLEP | APDRERQSFQ | YRLASLYLHY | LGLLRRFDTV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YDQMVQPQKR | RLLRRLLDGV | AGRVLELKDE | LVRADLCENH | CLDRVLQDFK | LTPADLEVPI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PKYFLLEQST | TVRERGLILA | EILSRLEPVS | SQKSFTGMHR | TEAIILVQKA | ERARQGRLRA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TFMREIRRDE | EQDGRIREDG | WHKFSQGQAA | VTIQKVWKGY | LQRKRTQQDR | RMEMEFIGML |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PSPNQVEHLS | IISQPCLVED | VQRLRQMEKE | EEFRAAMVKA | HDSLVETEGP | DMKEKMKEQI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RQWFIECHDL | TGRFPDYPDA | SSGGSYSIFA | DKTPEQVRME | LEMQMQENRK | KEQEKSKEKG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KDEKEKKKGK | EEKAKKGEVD | AVLQVLPSKC | IPMICAGHEE | YLNTWKNRCE | SIHPSQNYDS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ETLREEKRKE | VELEIRIQVD | ELMRQELRKL | RLAVDKEEER | PLRAPKKTPG | KKTGKKKEKD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LTSDRSVESL | YEELVISGLL | RKSESVALKD | YIGDFLYLGS | TLSLVKKLPM | PSLFDIRQNV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ALYAVLRLGS | PDIHIMAPLI | RSILLVGPSG | MGKKMLVKAV | CTETGANLFD | LSPENLLGKY |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PGRNGAQMMV | HIVFKVARLL | QPSVIWIGNA | EKNFYKKTPK | EDKEMDPKRI | KKDLTKALRL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LTPGDRVMLI | GTTSRPQLAE | MRGLCRVYER | ILFMPRPDYA | SRYVLWKRMI | EARGIQPTQH |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LDISALAKVS | DGYTPGHILQ | AIQSVLSERR | FLQLSKRPLV | ASEFLGQLVK | LDPVYREEEE |
| 790 | 800 | 810 | |||
| SLKDWYFKTP | LGKKSMKHRM | DQLEAEEAKL | DKEKKKRK |