O00410
PR
Gene name |
IPO5 (KPNB3, RANBP5) |
Protein name |
Importin-5 |
Names |
Imp5, Importin subunit beta-3, Karyopherin beta-3, Ran-binding protein 5, RanBP5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3843 |
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
3 structures for O00410
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6XTE | X-ray | 227 A | A | 4-1097 | PDB |
| 6XU2 | X-ray | 283 A | A | 1-1097 | PDB |
| AF-O00410-F1 | Predicted | AlphaFoldDB |
604 variants for O00410
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA388546841 rs1251457064 |
3 | A>V | No |
ClinGen TOPMed |
|
|
CA388546875 rs925447963 |
5 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA255222208 rs925447963 |
5 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs767414960 CA7024360 |
5 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7024362 rs760631279 |
7 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7024365 rs753585799 CA7024364 |
8 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186713614 CA388546919 |
8 | Q>K | No |
ClinGen gnomAD |
|
|
rs766125750 CA388546932 |
8 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA7024363 rs766125750 |
8 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA388546930 rs766125750 |
8 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1367145632 CA388546962 |
10 | Q>E | No |
ClinGen gnomAD |
|
|
TCGA novel CA388547009 rs1594044622 |
12 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs746335867 CA7024370 |
16 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs777447059 CA7024369 |
16 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770426666 CA7024371 |
17 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs868618030 CA255222244 |
21 | P>T | No |
ClinGen Ensembl |
|
|
CA388547189 rs1278923558 |
22 | D>N | No |
ClinGen gnomAD |
|
|
CA388547204 rs1326934945 |
23 | N>D | No |
ClinGen gnomAD |
|
|
rs1165961816 CA388547214 |
23 | N>K | No |
ClinGen TOPMed |
|
|
rs774478039 CA7024375 |
23 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA255222245 rs148654072 |
25 | V>D | No |
ClinGen ESP gnomAD |
|
|
CA388547239 rs1475372884 |
26 | R>Q | No |
ClinGen TOPMed |
|
|
CA7024376 rs761863636 |
28 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA7024418 rs758613534 |
31 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs966864589 CA255225325 |
32 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1293868687 CA388549207 |
32 | T>I | No |
ClinGen gnomAD |
|
|
rs966864589 CA388549199 |
32 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1490473217 CA388549240 |
35 | N>S | No |
ClinGen gnomAD |
|
|
rs1198070827 CA388549247 |
36 | I>F | No |
ClinGen gnomAD |
|
|
rs1406889426 CA388549279 |
38 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA388549302 rs1477067788 |
40 | S>L | No |
ClinGen gnomAD |
|
|
rs1390975580 CA388549331 |
43 | T>A | No |
ClinGen gnomAD |
|
|
rs770866993 CA7024421 |
47 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs889883388 CA255225334 |
50 | R>G | No |
ClinGen Ensembl |
|
| TCGA novel | 52 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1406529238 CA388549494 |
52 | T>K | No |
ClinGen gnomAD |
|
|
CA388549601 rs1424022631 |
57 | E>D | No |
ClinGen TOPMed |
|
|
rs1461396020 CA388550726 |
58 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs200669636 CA7024444 |
59 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1207510102 CA388550802 |
60 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs769616389 CA7024445 |
60 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA388550827 rs1443390340 |
61 | M>K | No |
ClinGen gnomAD |
|
|
rs1443390340 CA388550834 |
61 | M>R | No |
ClinGen gnomAD |
|
|
rs1594066110 CA388550869 |
62 | A>P | No |
ClinGen Ensembl |
|
|
rs749069060 CA7024447 |
63 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA388550985 rs1594066146 |
64 | V>G | No |
ClinGen Ensembl |
|
|
CA7024449 rs570121514 |
64 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7024450 rs146264118 |
65 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388551064 rs1338327692 |
67 | R>G | No |
ClinGen gnomAD |
|
|
CA255227128 rs754483048 |
67 | R>S | No |
ClinGen TOPMed |
|
|
CA7024452 rs772586977 COSM949093 |
68 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs760269723 CA7024453 |
69 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1331879238 CA388551210 |
71 | S>Y | No |
ClinGen gnomAD |
|
|
rs781044221 CA255227137 |
72 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7024454 rs765708464 |
73 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs78134188 CA255227138 |
74 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 75 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7024455 rs201632580 |
77 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763481233 CA7024456 |
79 | P>A | No |
ClinGen ExAC |
|
|
rs764376190 CA7024457 |
79 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs751965200 CA7024458 |
80 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA7024459 rs751965200 |
80 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA255227152 rs1051518732 |
82 | P>A | No |
ClinGen gnomAD |
|
|
rs890274379 CA255227153 |
82 | P>L | No |
ClinGen Ensembl |
|
|
CA255227154 rs748143461 |
85 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs781545111 CA7024460 |
85 | V>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 85 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388551791 rs1376124596 |
87 | T>A | No |
ClinGen TOPMed |
|
|
rs1306452336 CA388551837 |
88 | A>D | No |
ClinGen TOPMed |
|
|
rs955445538 CA255227156 |
89 | I>V | No |
ClinGen TOPMed |
|
|
rs1484227229 CA388551914 |
90 | K>N | No |
ClinGen gnomAD |
|
|
rs780303902 CA7024463 |
94 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs372020522 CA7024465 |
95 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372020522 CA7024466 |
95 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1403268562 CA388552189 |
99 | M>I | No |
ClinGen TOPMed |
|
| TCGA novel | 102 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7024470 rs139530372 |
104 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs139530372 CA7024469 |
104 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA388552395 rs1398429393 |
105 | M>I | No |
ClinGen gnomAD |
|
|
rs1419621577 CA388552383 |
105 | M>L | No |
ClinGen TOPMed |
|
|
CA7024472 CA7024471 rs369973919 |
108 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7024473 rs763393455 |
110 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs958413705 CA255227226 |
112 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA388552548 rs1408097808 |
113 | A>T | No |
ClinGen gnomAD |
|
|
rs1179234681 CA388552558 |
113 | A>V | No |
ClinGen gnomAD |
|
|
CA388552586 rs1331737843 |
115 | E>G | No |
ClinGen gnomAD |
|
|
rs765252479 CA7024510 |
124 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA388553398 rs1225715392 |
124 | D>Y | No |
ClinGen TOPMed |
|
|
CA7024511 rs752635318 COSM1677757 |
125 | G>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs112723764 CA255229519 |
126 | N>D | No |
ClinGen Ensembl |
|
|
rs1303724779 CA388553435 |
126 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 128 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7024512 rs758269720 |
128 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7024513 rs777565297 |
128 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780861333 CA7024516 |
131 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7024517 rs377639750 |
132 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779461751 CA7024519 |
134 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 138 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140987368 CA7024520 |
139 | S>L | No |
ClinGen ESP ExAC |
|
|
rs150493524 CA7024522 |
141 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375532265 CA7024523 |
147 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771250408 CA7024524 |
148 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA388553886 rs1252386767 |
148 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 149 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759865948 CA7024526 |
150 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs776942130 CA7024525 |
150 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866023259 CA255229639 |
152 | L>I | No |
ClinGen Ensembl |
|
|
rs765290143 CA388553977 |
153 | H>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1300363 CA7024527 rs765290143 |
153 | H>R | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1298135560 CA388554791 |
157 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1298135560 CA388554788 |
157 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs200450016 CA7024547 |
158 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7024549 rs763995786 |
161 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 162 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1255333252 CA388555056 |
168 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 169 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1246361833 CA388555082 |
169 | Y>H | No |
ClinGen gnomAD |
|
|
CA7024552 rs767234899 |
172 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 175 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 176 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA255232846 rs916746572 |
181 | M>I | No |
ClinGen TOPMed |
|
|
rs750233381 CA7024553 |
181 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1190750083 CA388555312 |
181 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1250379075 CA388555368 |
182 | Q>P | No |
ClinGen TOPMed |
|
|
rs755781654 CA7024554 |
186 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7024555 rs35584866 |
187 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388555490 rs35584866 |
187 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754499577 CA7024557 |
188 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs760432194 CA7024574 |
190 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7024575 rs766035801 |
191 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 193 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1332793252 CA388555659 |
193 | S>P | No |
ClinGen gnomAD |
|
|
CA388555755 rs1467406077 |
197 | T>I | No |
ClinGen TOPMed |
|
|
rs879025604 CA255233069 |
200 | F>S | No |
ClinGen Ensembl |
|
|
CA388555816 rs1365937601 |
201 | I>L | No |
ClinGen gnomAD |
|
|
rs757833968 CA7024580 |
202 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs746221898 CA7024582 |
206 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388555949 rs746221898 |
206 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs531048733 CA255233087 |
207 | N>S | No |
ClinGen 1000Genomes TOPMed |
|
|
CA7024583 rs756384236 |
209 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7024584 rs756384236 |
209 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1187924832 CA388556025 |
209 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1033542999 CA255233110 |
214 | F>C | No |
ClinGen Ensembl |
|
|
rs1473291941 CA388556130 |
214 | F>V | No |
ClinGen gnomAD |
|
|
rs148968455 CA7024585 |
215 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7024587 rs147118711 |
219 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1391472380 CA388556261 |
220 | G>E | No |
ClinGen gnomAD |
|
|
CA388556286 rs1402707226 |
221 | F>L | No |
ClinGen gnomAD |
|
|
rs1368508026 CA388556312 |
223 | Q>E | No |
ClinGen TOPMed |
|
|
rs746858908 CA7024610 |
224 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7024612 rs776282614 |
226 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA7024613 rs759442294 |
228 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA388557104 rs1211038216 |
228 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA388557120 rs1467797201 |
229 | C>Y | No |
ClinGen gnomAD |
|
|
CA7024615 rs75755755 |
233 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388557187 rs1398696257 |
233 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1052574529 COSM3931867 CA255234170 |
233 | D>N | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs762725200 CA7024616 |
238 | K>N | No |
ClinGen ExAC TOPMed |
|
|
CA7024618 rs751094057 |
241 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388557326 rs761075755 |
243 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761075755 CA7024619 |
243 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388557349 rs1460544215 |
244 | A>T | No |
ClinGen gnomAD |
|
|
CA7024621 rs754173758 |
246 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1427705206 CA388557478 |
250 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 250 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1206616431 CA388557512 |
252 | R>H | No |
ClinGen TOPMed |
|
|
rs1436225992 CA388557530 |
253 | P>R | No |
ClinGen gnomAD |
|
|
rs758657491 CA7024625 |
253 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA388557541 rs1594082529 |
254 | H>R | No |
ClinGen Ensembl |
|
| TCGA novel | 256 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7024626 rs777697696 |
258 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388557628 rs777697696 |
258 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs937644070 CA255234199 |
262 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs781237529 CA7024629 |
263 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA255234203 rs867607574 |
264 | K>R | No |
ClinGen Ensembl |
|
|
rs758542306 CA7024645 |
266 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1214633302 CA388557907 |
267 | G>A | No |
ClinGen gnomAD |
|
|
CA7024648 rs751568192 |
270 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA7024647 rs751568192 |
270 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1133005 CA255234249 |
271 | L>I | No |
ClinGen Ensembl |
|
|
rs569147655 CA7024649 |
271 | L>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1185822217 CA388558033 |
273 | N>S | No |
ClinGen gnomAD |
|
|
CA388558031 rs1474924438 |
273 | N>Y | No |
ClinGen gnomAD |
|
|
CA388558048 rs1414258773 |
274 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA388558076 rs1309544223 |
275 | Q>R | No |
ClinGen TOPMed |
|
|
CA255234253 rs995344510 |
276 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1367482292 CA388558098 COSM1210822 |
276 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA7024652 CA7024651 rs756134015 |
277 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7024650 rs745733820 |
277 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs749163854 CA7024653 |
278 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA388558160 rs1366350307 |
280 | L>V | No |
ClinGen TOPMed |
|
|
rs1297659215 CA388558249 |
283 | I>V | No |
ClinGen TOPMed |
|
|
CA7024655 rs142950356 |
284 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388558293 rs142950356 |
284 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_012029 CA255234283 rs1053814 |
286 | L>I | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
COSM1514381 CA7024657 rs1053814 |
286 | L>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA7024659 rs760018245 |
288 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA388558412 rs1223409838 |
290 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1210482429 CA388558417 |
290 | A>V | No |
ClinGen gnomAD |
|
|
CA388558453 rs1594083103 |
293 | M>I | No |
ClinGen Ensembl |
|
|
CA7024662 rs763420961 |
293 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7024663 rs764386112 |
297 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751764617 CA7024664 |
298 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7024665 rs757424968 |
299 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1435279664 CA388558557 |
299 | N>S | No |
ClinGen gnomAD |
|
|
CA388558594 rs1204306914 |
302 | A>S | No |
ClinGen gnomAD |
|
|
rs1485006022 CA388558610 |
303 | Q>H | No |
ClinGen gnomAD |
|
|
CA388558608 rs1241757671 COSM1368128 |
303 | Q>R | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA388558616 rs1174589410 |
304 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 306 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7024693 rs777447798 |
308 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs987383278 CA255236963 |
312 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA388559531 rs1566524166 |
313 | V>F | No |
ClinGen Ensembl |
|
|
CA388559550 rs1278730769 |
315 | L>V | No |
ClinGen TOPMed |
|
|
rs780570175 CA7024696 |
316 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA7024695 rs770386242 |
316 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 317 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1243043060 CA388559581 |
317 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs749744503 CA7024697 |
319 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388559604 rs1185256027 |
319 | E>V | No |
ClinGen gnomAD |
|
|
rs769101042 CA7024698 |
322 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA388559645 rs1271628957 |
322 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 324 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1391739305 CA388559746 CA388559744 |
330 | D>E | No |
ClinGen gnomAD |
|
|
rs1400202527 CA388559736 |
330 | D>N | No |
ClinGen TOPMed |
|
|
rs762126244 CA7024700 |
331 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA255236991 rs868352454 |
333 | D>G | No |
ClinGen Ensembl |
|
|
rs1318787710 CA388559775 |
333 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7024724 rs759580129 |
336 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7024725 rs765377936 |
339 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762879850 CA7024727 COSM1685474 |
340 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA388560390 rs756899201 CA7024730 |
346 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1566531322 CA388560405 |
347 | A>V | No |
ClinGen Ensembl |
|
|
rs202197617 CA7024734 |
348 | C>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7024735 rs551652520 |
348 | C>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7024738 rs779647717 |
349 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388560433 rs779647717 CA7024737 |
349 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388560443 rs1306171345 |
350 | L>V | No |
ClinGen gnomAD |
|
|
CA7024740 rs778273822 |
351 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA7024741 rs778273822 |
351 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs746109488 CA7024744 |
353 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7024746 rs775571594 |
355 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7024747 rs775571594 |
355 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA255238843 rs943657196 |
357 | P>L | No |
ClinGen TOPMed |
|
|
CA7024751 rs548968840 |
358 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1594098978 CA388560578 |
359 | I>T | No |
ClinGen Ensembl |
|
|
rs1391867695 CA388560593 |
360 | K>R | No |
ClinGen gnomAD |
|
| rs1463598453 | 363 | I>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1301659935 CA388560661 |
363 | I>M | No |
ClinGen gnomAD |
|
|
rs1168622167 CA388560649 |
363 | I>V | No |
ClinGen gnomAD |
|
|
rs1395855074 CA388560665 |
364 | M>V | No |
ClinGen gnomAD |
|
|
CA7024753 rs755820426 |
366 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372225798 CA388560751 |
370 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA388561142 rs1418659781 |
371 | D>V | No |
ClinGen gnomAD |
|
|
CA255240089 rs939523430 |
371 | D>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 376 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388561226 rs1162922402 |
379 | L>V | No |
ClinGen gnomAD |
|
|
CA388561260 rs1454593463 |
381 | A>V | No |
ClinGen gnomAD |
|
|
rs768654601 CA7024782 |
384 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7024784 rs747984894 |
385 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA7024783 rs778993978 |
385 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1566537194 CA388561315 |
387 | E>G | No |
ClinGen Ensembl |
|
|
CA388561370 rs1231124487 |
392 | Q>E | No |
ClinGen gnomAD |
|
|
rs556143247 CA7024787 |
396 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA255240119 rs866155687 |
398 | N>D | No |
ClinGen Ensembl |
|
|
rs1299526288 CA388561463 |
400 | I>V | No |
ClinGen TOPMed |
|
|
CA7024789 rs776359757 |
401 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 404 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1395893179 CA388561589 |
411 | P>R | No |
ClinGen TOPMed |
|
|
rs1272675775 CA388561646 |
414 | R>G | No |
ClinGen TOPMed |
|
|
CA388561670 rs1236783741 |
416 | R>M | No |
ClinGen gnomAD |
|
|
rs1174849718 CA388561698 |
419 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM1210823 CA7024807 rs746928273 |
423 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA388561752 rs1171988726 |
424 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 425 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770812849 CA7024808 |
433 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA7024810 rs745495001 |
436 | K>N | No |
ClinGen ExAC |
|
|
CA255240261 rs1018843703 |
438 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7024812 rs530239234 |
439 | H>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs530239234 CA7024813 |
439 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7024811 COSM1706938 rs769611200 |
439 | H>Y | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs748896856 CA7024832 |
445 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA388562037 rs1389756639 |
449 | T>A | No |
ClinGen TOPMed |
|
|
CA388562053 rs1388336698 |
450 | M>I | No |
ClinGen gnomAD |
|
|
CA7024834 rs773754401 |
450 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs768172361 CA7024833 |
450 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA388562065 rs1426476081 |
451 | E>V | No |
ClinGen TOPMed |
|
|
COSM275579 CA388562101 rs1402188959 |
454 | G>D | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA388562109 rs1318893484 |
455 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 456 | Q>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1398065909 CA388562131 |
457 | R>C | No |
ClinGen gnomAD |
|
|
rs1296466627 CA388562135 |
457 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1296466627 CA388562134 |
457 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs940314347 CA255240367 |
459 | Q>H | No |
ClinGen TOPMed |
|
|
rs766909818 CA7024836 |
466 | L>F | No |
ClinGen ExAC |
|
|
rs61750355 CA255240384 |
467 | I>V | No |
ClinGen ESP TOPMed |
|
|
rs776973796 CA7024837 |
468 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 472 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7024840 rs752929201 |
475 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1215042058 CA388562312 |
476 | S>T | No |
ClinGen gnomAD |
|
|
CA7024843 rs751731064 |
479 | I>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 479 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1377601442 CA388562333 |
479 | I>T | No |
ClinGen TOPMed |
|
|
CA388562340 rs1186818466 |
480 | P>L | No |
ClinGen gnomAD |
|
|
CA388562356 rs1314892548 |
483 | D>N | No |
ClinGen TOPMed |
|
|
CA388562373 rs1415441622 |
485 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 486 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM199019 CA7024846 rs750401262 |
487 | K>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs750401262 CA388562388 |
487 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs755870804 CA7024847 |
488 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA388562399 rs1406941043 |
489 | L>M | No |
ClinGen gnomAD |
|
|
CA388562400 rs1406941043 |
489 | L>V | No |
ClinGen gnomAD |
|
|
rs1306355057 CA388562416 |
491 | S>C | No |
ClinGen TOPMed |
|
|
rs779744308 CA7024848 |
493 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1377389874 CA388562453 |
497 | L>V | No |
ClinGen gnomAD |
|
|
CA7024875 rs746366981 |
501 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA7024874 rs200052721 |
501 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7024876 rs770247583 |
502 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7024878 rs144227305 |
506 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7024880 rs774649112 |
514 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA7024882 rs767656343 |
516 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA255244556 rs371777975 |
521 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM432643 rs371777975 CA7024885 |
521 | D>N | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7024886 rs753651187 |
522 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7024887 rs376474816 |
522 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA255244567 rs34433527 |
524 | E>K | No |
ClinGen Ensembl |
|
|
CA388562878 rs1277007180 |
525 | E>G | No |
ClinGen gnomAD |
|
|
rs632729 CA255244573 VAR_012030 |
525 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen UniProt NCI-TCGA dbSNP gnomAD |
|
CA388562876 rs632729 |
525 | E>Q | No |
ClinGen gnomAD |
|
|
CA388562883 rs1378358472 |
526 | K>E | No |
ClinGen TOPMed |
|
|
rs758101000 CA7024890 |
529 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs867122072 CA255244581 |
529 | P>L | No |
ClinGen Ensembl |
|
|
rs777237462 CA7024891 |
530 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs746570558 CA7024892 |
532 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA388562951 rs1263679149 |
535 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs756632987 CA7024893 |
536 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1430396222 CA388562956 |
536 | P>S | No |
ClinGen gnomAD |
|
|
CA255244628 rs17854370 |
538 | L>R | No |
ClinGen Ensembl |
|
|
CA388562986 rs1476993381 |
541 | I>V | No |
ClinGen gnomAD |
|
|
rs1457663224 CA388563010 |
544 | N>I | No |
ClinGen gnomAD |
|
|
rs1457663224 CA388563011 |
544 | N>S | No |
ClinGen gnomAD |
|
|
COSM1493154 rs566255473 CA7024897 |
545 | A>V | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs772461426 CA7024899 |
546 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs61750356 CA7024900 |
547 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7024903 rs766491746 |
549 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs484770 CA255244663 VAR_012031 |
549 | E>K | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1320891397 CA388563082 |
556 | K>E | No |
ClinGen gnomAD |
|
|
rs1594110496 CA388563092 |
557 | T>N | No |
ClinGen Ensembl |
|
|
CA7024907 rs758044209 |
558 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 560 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1190338785 CA388563161 |
567 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs139377419 CA7024911 |
568 | V>F | No |
ClinGen ESP ExAC |
|
|
rs1163203133 CA388563184 |
571 | E>V | No |
ClinGen gnomAD |
|
|
rs749708877 CA7024913 |
572 | K>E | No |
ClinGen ExAC TOPMed |
|
|
CA388563191 rs1365883425 |
572 | K>T | No |
ClinGen gnomAD |
|
|
rs747147092 CA7024947 |
574 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs200401552 CA7024948 |
574 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388563371 COSM432644 rs1279488903 |
579 | D>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs775340701 CA7024952 |
589 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs762912125 CA7024953 |
590 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs768287713 CA7024954 |
592 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs570973958 CA7024955 |
593 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs376142906 CA7024956 |
594 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1309897884 CA388563586 |
596 | D>E | No |
ClinGen TOPMed |
|
|
rs767266660 CA7024957 |
598 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA388563613 rs767266660 |
598 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1430885126 CA388563632 |
600 | Q>* | No |
ClinGen gnomAD |
|
|
CA388564150 rs1300157804 |
601 | I>V | No |
ClinGen gnomAD |
|
|
CA388564171 rs1298572892 |
604 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA388564262 rs1276466447 |
616 | G>A | No |
ClinGen gnomAD |
|
|
rs752023616 CA7024981 |
618 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA388564300 rs1229310113 |
621 | Q>R | No |
ClinGen gnomAD |
|
|
CA388564313 rs1289614069 |
623 | L>F | No |
ClinGen gnomAD |
|
|
rs1320486708 CA388564315 |
623 | L>R | No |
ClinGen gnomAD |
|
|
rs767804487 CA7024983 |
625 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA388564323 rs1263306361 |
625 | V>M | No |
ClinGen gnomAD |
|
|
CA388564329 rs1281825523 |
626 | V>L | No |
ClinGen TOPMed |
|
|
rs1259104268 CA388564346 |
628 | G>E | No |
ClinGen gnomAD |
|
|
rs1594118000 CA388564375 |
632 | K>R | No |
ClinGen Ensembl |
|
|
CA7024986 rs764782115 |
636 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7024988 rs754857544 |
639 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1231523098 CA388564430 |
641 | A>T | No |
ClinGen TOPMed |
|
|
rs1372499567 CA388564437 |
642 | L>V | No |
ClinGen TOPMed |
|
|
CA388564481 rs1333711762 |
646 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs748065730 CA7025007 |
652 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA7025006 rs778886394 |
652 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA388564535 rs1310429180 |
653 | D>G | No |
ClinGen gnomAD |
|
|
CA388564556 rs367739792 |
656 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7025009 rs367739792 |
656 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7025012 TCGA novel rs780929309 |
661 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
rs745538786 CA7025013 |
662 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 679 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs865961258 CA255247954 |
680 | T>N | No |
ClinGen Ensembl |
|
|
rs1437805996 CA388564746 |
683 | Q>R | No |
ClinGen gnomAD |
|
|
CA7025040 rs771232636 |
695 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1489288750 CA388564886 |
701 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 705 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1262673341 CA388564928 |
707 | M>V | No |
ClinGen gnomAD |
|
|
rs763062627 CA7025045 |
708 | V>F | No |
ClinGen ExAC |
|
|
CA255249340 rs969039015 |
712 | K>R | No |
ClinGen TOPMed |
|
|
CA388564998 rs1304224690 |
717 | D>N | No |
ClinGen gnomAD |
|
|
rs746164206 CA7025060 |
718 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 718 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7025061 rs770203078 |
723 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA7025062 rs775538256 |
724 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs2230411 CA7025064 |
725 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388565252 rs1594126420 |
725 | E>G | No |
ClinGen Ensembl |
|
|
rs1287865651 CA388565250 |
725 | E>Q | No |
ClinGen TOPMed |
|
|
CA255250561 rs202187162 |
726 | S>C | No |
ClinGen Ensembl |
|
|
rs1347278543 CA388565269 |
727 | M>I | No |
ClinGen TOPMed |
|
|
CA388565265 rs1342902079 |
727 | M>T | No |
ClinGen gnomAD |
|
|
CA388565274 rs144895554 |
728 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7025065 rs144895554 |
728 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7025066 rs761838822 |
729 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 731 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1594126499 CA388565295 |
732 | E>G | No |
ClinGen Ensembl |
|
|
rs1594126506 CA388565301 |
733 | C>G | No |
ClinGen Ensembl |
|
|
CA388565313 rs1311164719 |
735 | R>G | No |
ClinGen gnomAD |
|
|
CA388565315 rs1178750110 |
735 | R>K | No |
ClinGen TOPMed |
|
|
rs1383579161 COSM3399474 CA388565328 |
737 | R>C | Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA7025068 rs750385684 |
737 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1383579161 CA388565326 |
737 | R>S | No |
ClinGen gnomAD |
|
|
rs1419082993 CA388565361 |
742 | L>F | No |
ClinGen TOPMed |
|
|
CA255250614 rs879176466 |
744 | Q>E | No |
ClinGen Ensembl |
|
|
CA388565376 CA7025069 rs755796698 |
744 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs753439390 CA7025071 |
745 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs766226399 CA7025070 |
745 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1256754192 CA388565385 |
746 | W>R | No |
ClinGen gnomAD |
|
|
rs1483042693 CA388565415 |
749 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA388565427 rs1240376549 |
751 | D>H | No |
ClinGen gnomAD |
|
|
rs778360219 CA7025073 |
754 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1434328819 CA388565449 |
754 | I>M | No |
ClinGen gnomAD |
|
|
CA7025074 rs747720307 |
754 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1376774011 CA388565468 |
757 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1467898404 CA388565481 |
759 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs370843418 CA7025076 |
761 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA255250708 rs775003347 |
764 | D>V | No |
ClinGen gnomAD |
|
|
CA388565517 rs1296310512 |
765 | V>I | No |
ClinGen gnomAD |
|
|
rs200162649 CA255250748 |
772 | S>P | No |
ClinGen Ensembl |
|
|
rs1185510731 CA388565630 |
779 | V>I | No |
ClinGen TOPMed |
|
|
rs1184599207 CA388565648 |
781 | G>E | No |
ClinGen gnomAD |
|
|
CA255251866 rs910531116 |
782 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 784 | C>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748431819 CA7025101 |
784 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs771995491 CA7025102 |
787 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1195491832 CA388565690 |
787 | N>K | No |
ClinGen TOPMed |
|
|
CA388565689 rs771995491 |
787 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA388565705 rs1340258215 |
789 | H>P | No |
ClinGen TOPMed |
|
|
CA388565702 rs1365043307 |
789 | H>Y | No |
ClinGen gnomAD |
|
|
rs773390727 CA7025103 |
793 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA388565744 rs1341436730 |
795 | G>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 795 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7025104 rs760493969 |
795 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 796 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388565937 rs1445219439 |
812 | Q>H | No |
ClinGen TOPMed |
|
|
CA388566022 rs1284348847 |
816 | Q>H | No |
ClinGen TOPMed |
|
| TCGA novel | 819 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388566084 rs1175075014 |
821 | D>G | No |
ClinGen gnomAD |
|
|
CA255252013 rs1002401620 |
823 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1410853075 CA388566157 |
827 | S>L | No |
ClinGen TOPMed |
|
|
CA388566188 rs1566568054 |
830 | D>V | No |
ClinGen Ensembl |
|
|
rs148215705 CA7025155 |
833 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1283154644 CA388566291 |
833 | D>V | No |
ClinGen TOPMed |
|
|
CA7025156 rs761577131 |
834 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 841 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1594131782 CA388566400 |
843 | S>A | No |
ClinGen Ensembl |
|
|
CA388566418 rs1293489842 |
844 | D>E | No |
ClinGen TOPMed |
|
|
CA7025159 rs760116915 |
845 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA7025161 rs753157612 |
849 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 850 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7025162 rs758721104 |
855 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388566576 rs1211110471 |
858 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1390568670 CA388566610 |
861 | F>C | No |
ClinGen TOPMed |
|
|
CA7025164 rs199998911 |
863 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757511993 CA7025165 |
868 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388566672 rs1267111689 |
870 | N>S | No |
ClinGen gnomAD |
|
|
CA388566671 rs1267111689 |
870 | N>T | No |
ClinGen gnomAD |
|
|
rs781245747 CA7025166 |
872 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764489742 CA7025181 |
873 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA388567101 rs1566573537 |
874 | P>L | No |
ClinGen Ensembl |
|
|
CA7025182 rs751988983 |
874 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA388567107 rs762009062 |
875 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA7025183 rs762009062 |
875 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1034844148 CA255254026 |
877 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 878 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780022192 CA7025187 |
887 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs201070600 CA7025188 |
892 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs9584741 CA255254064 COSM432645 |
893 | E>K | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA255254084 rs951307341 |
897 | P>R | No |
ClinGen TOPMed |
|
| TCGA novel | 899 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369366204 CA388567305 |
903 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369366204 CA7025192 |
903 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_012032 CA255254125 rs1804740 |
905 | Y>C | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA388567318 rs1404849777 |
905 | Y>H | No |
ClinGen gnomAD |
|
|
CA7025195 rs565670539 |
909 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs200546717 CA255254127 |
909 | P>T | No |
ClinGen Ensembl |
|
|
rs763512741 CA7025197 |
910 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs756083327 CA7025196 |
910 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769101138 CA7025198 |
913 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1485013377 CA388567372 |
913 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA7025199 rs774856144 |
914 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7025200 rs373799788 |
917 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1381626471 CA388567406 |
918 | S>G | No |
ClinGen gnomAD |
|
|
rs1172863234 CA388567410 |
918 | S>T | No |
ClinGen TOPMed |
|
|
CA7025203 rs760852635 |
926 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1594135300 CA388567502 |
932 | M>I | No |
ClinGen Ensembl |
|
| TCGA novel | 932 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1051231256 CA255254243 |
932 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA388567507 rs1333208680 |
933 | A>S | No |
ClinGen gnomAD |
|
|
CA7025207 rs778936286 |
934 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs752685285 CA7025208 |
935 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7025210 rs777731318 |
936 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs187636041 CA255254274 |
941 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA7025211 rs746630576 |
941 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7025212 rs11551261 |
942 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777664269 CA7025213 |
944 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335509101 CA388567590 |
946 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1403315928 CA388567647 |
947 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs377477816 CA7025242 |
955 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs776677484 CA7025243 |
957 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324017361 CA388567762 |
958 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA388567785 rs1290367558 |
960 | S>F | No |
ClinGen gnomAD |
|
|
rs765384473 CA7025245 |
962 | T>A | No |
ClinGen ExAC |
|
|
CA7025246 rs145372207 |
962 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388567816 rs1218288597 |
963 | K>T | No |
ClinGen gnomAD |
|
|
rs762972537 CA7025247 |
964 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1474924683 CA388567868 COSM4150700 |
967 | N>S | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1804741 VAR_012033 CA255255030 |
969 | T>I | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs373604027 CA7025251 |
984 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750024733 CA7025252 |
986 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750024733 CA388568083 |
986 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1594137317 CA388568096 |
987 | V>A | No |
ClinGen Ensembl |
|
|
rs755807651 CA7025253 |
987 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779531663 CA7025254 |
989 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA388568211 rs183978513 |
997 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7025258 rs747583149 |
1003 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs867180035 CA255255117 |
1003 | H>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 1004 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1356556184 CA388568282 |
1006 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1284587461 CA388568293 |
1007 | E>G | No |
ClinGen gnomAD |
|
|
rs777102044 CA7025260 |
1007 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1374837782 CA388568318 |
1011 | Q>E | No |
ClinGen TOPMed |
|
| TCGA novel | 1012 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746075666 CA7025261 |
1013 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7025262 rs143227504 |
1013 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149346936 CA7025264 |
1014 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7025265 rs755640361 |
1014 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388568370 rs1182874766 |
1015 | Y>C | No |
ClinGen gnomAD |
|
|
CA388568406 rs1442798100 |
1018 | D>E | No |
ClinGen gnomAD |
|
|
rs1160360832 CA388568422 |
1020 | I>T | No |
ClinGen gnomAD |
|
|
CA7025267 rs761862158 |
1022 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1400317179 CA388568444 |
1022 | S>N | No |
ClinGen gnomAD |
|
|
CA7025293 rs566380360 |
1026 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388568637 rs1594139789 |
1031 | N>S | No |
ClinGen Ensembl |
|
|
CA7025295 rs757861264 |
1033 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs144748695 CA7025297 |
1033 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144748695 CA7025296 |
1033 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756501766 CA7025298 |
1034 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427583213 CA388568720 |
1039 | F>C | No |
ClinGen gnomAD |
|
|
rs867058078 CA255256194 |
1040 | S>G | No |
ClinGen Ensembl |
|
|
CA7025299 rs780618442 |
1040 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA388568730 rs1168933227 |
1041 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA255256225 rs770196627 CA255256223 |
1047 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
CA7025301 rs768992241 |
1047 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs748198568 CA7025304 |
1049 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM697158 rs748198568 CA7025303 |
1049 | E>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1355117708 CA388568798 |
1051 | I>V | No |
ClinGen TOPMed |
|
|
CA388568814 rs773090266 |
1053 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7025305 rs773090266 |
1053 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs940775071 CA255256245 |
1053 | H>Y | No |
ClinGen TOPMed |
|
|
rs1328332319 CA388568821 |
1054 | E>A | No |
ClinGen gnomAD |
|
|
rs746970234 CA7025306 |
1055 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7025307 rs770690731 |
1056 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA388568852 rs1330236010 |
1056 | P>L | No |
ClinGen TOPMed |
|
|
CA7025309 rs759183886 |
1057 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776448760 CA7025308 |
1057 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs139976558 CA7025311 |
1060 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7025312 rs762485186 |
1063 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs145600638 CA7025313 |
1063 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs548708334 CA7025315 |
1065 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7025316 rs766849005 |
1066 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM199022 CA7025317 rs370003102 |
1066 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA7025340 rs777825805 |
1070 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7025341 rs747149763 |
1071 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454520280 CA388569046 |
1071 | S>C | No |
ClinGen gnomAD |
|
|
CA388569042 rs747149763 |
1071 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757334325 CA7025342 |
1072 | G>R | No |
ClinGen ExAC |
|
|
rs1337251364 CA388569054 |
1073 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA388569057 rs1381934011 |
1073 | G>V | No |
ClinGen gnomAD |
|
|
rs531367721 CA7025344 |
1076 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA388569078 rs1239973488 |
1077 | E>Q | No |
ClinGen gnomAD |
|
|
rs1327446342 CA388569090 |
1078 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA388569103 rs1402954566 |
1080 | A>V | No |
ClinGen TOPMed |
|
|
CA388569109 rs748967343 |
1081 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748967343 CA7025347 |
1081 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388569110 rs748967343 |
1081 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382370127 CA388569129 |
1084 | P>S | No |
ClinGen TOPMed |
|
|
CA388569141 rs1179653432 |
1086 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1251985525 CA388569153 |
1087 | Q>R | No |
ClinGen gnomAD |
|
|
CA388569162 rs1429021183 |
1088 | A>V | No |
ClinGen TOPMed |
|
|
CA388569163 COSM1210821 rs1180569360 |
1089 | A>T | lung large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA7025351 rs549930402 |
1096 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1247388097 CA388569218 |
1097 | A>S | No |
ClinGen TOPMed |
|
|
CA7025352 rs371193973 |
1097 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with O00410
6 regional properties for O00410
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | HEAT repeat | 907 - 935 | IPR000357 |
| domain | Importin-beta, N-terminal domain | 45 - 99 | IPR001494 |
| domain | TOG domain | 348 - 594 | IPR034085 |
| repeat | Importin repeat | 1005 - 1052 | IPR040928 |
| repeat | Importin repeat 6 | 765 - 872 | IPR041389 |
| repeat | Importin repeat 4 | 270 - 357 | IPR041653 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nuclear pore | A protein complex providing a discrete opening in the nuclear envelope of a eukaryotic cell, where the inner and outer nuclear membranes are joined. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTPase inhibitor activity | Stops, prevents or reduces the activity of any enzyme that catalyzes the hydrolysis of GTP to GDP and orthophosphate. |
| nuclear import signal receptor activity | Combining with a nuclear import signal (NIS) on a cargo to be transported, to mediate transport of the cargo through the nuclear pore, from the cytoplasm to the nuclear lumen. The cargo can be either a RNA or a protein. |
| nuclear localization sequence binding | Binding to a nuclear localization sequence, a specific peptide sequence that acts as a signal to localize the protein within the nucleus. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| small GTPase binding | Binding to a small monomeric GTPase. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to amino acid stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amino acid stimulus. An amino acid is a carboxylic acids containing one or more amino groups. |
| negative regulation of cyclin-dependent protein serine/threonine kinase activity | Any process that stops, prevents, or reduces the frequency, rate or extent of cyclin-dependent protein serine/threonine kinase activity. |
| NLS-bearing protein import into nucleus | The directed movement of a protein bearing a nuclear localization signal (NLS) from the cytoplasm into the nucleus, across the nuclear envelope. |
| positive regulation of protein import into nucleus | Any process that activates or increases the frequency, rate or extent of movement of proteins from the cytoplasm into the nucleus. |
| protein import into nucleus | The directed movement of a protein from the cytoplasm to the nucleus. |
| ribosomal protein import into nucleus | The directed movement of a ribosomal protein from the cytoplasm into the nucleus, across the nuclear membrane. At least some ribosomal proteins, including rpl12, uses the importin 11 pathway as a major route into the nucleus. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAAAAEQQQ | FYLLLGNLLS | PDNVVRKQAE | ETYENIPGQS | KITFLLQAIR | NTTAAEEARQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| MAAVLLRRLL | SSAFDEVYPA | LPSDVQTAIK | SELLMIIQME | TQSSMRKKVC | DIAAELARNL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IDEDGNNQWP | EGLKFLFDSV | SSQNVGLREA | ALHIFWNFPG | IFGNQQQHYL | DVIKRMLVQC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MQDQEHPSIR | TLSARATAAF | ILANEHNVAL | FKHFADLLPG | FLQAVNDSCY | QNDDSVLKSL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VEIADTVPKY | LRPHLEATLQ | LSLKLCGDTS | LNNMQRQLAL | EVIVTLSETA | AAMLRKHTNI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VAQTIPQMLA | MMVDLEEDED | WANADELEDD | DFDSNAVAGE | SALDRMACGL | GGKLVLPMIK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EHIMQMLQNP | DWKYRHAGLM | ALSAIGEGCH | QQMEGILNEI | VNFVLLFLQD | PHPRVRYAAC |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NAVGQMATDF | APGFQKKFHE | KVIAALLQTM | EDQGNQRVQA | HAAAALINFT | EDCPKSLLIP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YLDNLVKHLH | SIMVLKLQEL | IQKGTKLVLE | QVVTSIASVA | DTAEEKFVPY | YDLFMPSLKH |
| 550 | 560 | 570 | 580 | 590 | 600 |
| IVENAVQKEL | RLLRGKTIEC | ISLIGLAVGK | EKFMQDASDV | MQLLLKTQTD | FNDMEDDDPQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ISYMISAWAR | MCKILGKEFQ | QYLPVVMGPL | MKTASIKPEV | ALLDTQDMEN | MSDDDGWEFV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| NLGDQQSFGI | KTAGLEEKST | ACQMLVCYAK | ELKEGFVEYT | EQVVKLMVPL | LKFYFHDGVR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| VAAAESMPLL | LECARVRGPE | YLTQMWHFMC | DALIKAIGTE | PDSDVLSEIM | HSFAKCIEVM |
| 790 | 800 | 810 | 820 | 830 | 840 |
| GDGCLNNEHF | EELGGILKAK | LEEHFKNQEL | RQVKRQDEDY | DEQVEESLQD | EDDNDVYILT |
| 850 | 860 | 870 | 880 | 890 | 900 |
| KVSDILHSIF | SSYKEKVLPW | FEQLLPLIVN | LICPHRPWPD | RQWGLCIFDD | VIEHCSPASF |
| 910 | 920 | 930 | 940 | 950 | 960 |
| KYAEYFLRPM | LQYVCDNSPE | VRQAAAYGLG | VMAQYGGDNY | RPFCTEALPL | LVRVIQSADS |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| KTKENVNATE | NCISAVGKIM | KFKPDCVNVE | EVLPHWLSWL | PLHEDKEEAV | QTFNYLCDLI |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| ESNHPIVLGP | NNTNLPKIFS | IIAEGEMHEA | IKHEDPCAKR | LANVVRQVQT | SGGLWTECIA |
| 1090 | |||||
| QLSPEQQAAI | QELLNSA |