Q9UND3
PR
Gene name |
NPIPA1 (NPIP) |
Protein name |
Nuclear pore complex-interacting protein family member A1 |
Names |
Nuclear pore complex-interacting protein, NPIP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9284 |
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 Q9UND3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UND3-F1 | Predicted | AlphaFoldDB |
275 variants for Q9UND3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA394813971 rs1230887627 |
3 | C>* | No |
ClinGen TOPMed |
|
|
CA394813962 rs1226178008 |
3 | C>Y | No |
ClinGen gnomAD |
|
|
CA394814031 rs1266996127 |
8 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1278333933 CA394814098 |
10 | L>P | No |
ClinGen TOPMed |
|
|
rs1316598724 CA394814122 |
12 | G>R | No |
ClinGen TOPMed |
|
|
CA394814132 rs1329271262 |
13 | G>S | No |
ClinGen gnomAD |
|
|
rs1555532848 CA394814161 |
14 | C>Y | No |
ClinGen Ensembl |
|
|
CA394814179 rs1210000454 |
15 | K>T | No |
ClinGen gnomAD |
|
|
CA394814247 rs1288360595 |
18 | H>R | No |
ClinGen gnomAD |
|
|
rs1597167832 CA394814236 |
18 | H>Y | No |
ClinGen Ensembl |
|
|
CA394814269 rs1567572654 |
19 | S>C | No |
ClinGen Ensembl |
|
|
rs1451467349 CA394814265 |
19 | S>T | No |
ClinGen gnomAD |
|
|
CA394815159 rs1597172031 |
25 | T>A | No |
ClinGen Ensembl |
|
|
CA394815228 rs1309219434 |
30 | R>H | No |
ClinGen TOPMed |
|
|
CA394815248 rs1309236179 |
32 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA394815411 rs1242491403 |
45 | I>T | No |
ClinGen gnomAD |
|
|
rs1264684401 CA394815435 |
47 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA394815618 rs1224380947 |
61 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA394815668 rs1249167478 |
64 | C>W | No |
ClinGen gnomAD |
|
|
CA394816385 rs1304304919 |
65 | V>L | No |
ClinGen TOPMed |
|
|
rs1304304919 CA394816388 |
65 | V>M | No |
ClinGen TOPMed |
|
|
CA394816430 rs1244296445 |
67 | F>L | No |
ClinGen gnomAD |
|
|
rs1473270756 CA394816477 |
70 | T>S | No |
ClinGen TOPMed |
|
|
CA394816495 rs1180860443 |
71 | I>T | No |
ClinGen TOPMed |
|
|
rs1446972107 CA394816487 |
71 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1167168611 CA394816537 |
73 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1410782912 CA394816558 |
75 | Q>E | No |
ClinGen gnomAD |
|
|
CA394816601 rs1229284821 |
77 | G>E | No |
ClinGen TOPMed |
|
|
CA394816610 rs1390388439 |
78 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA394816609 rs1390388439 |
78 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA394816613 rs1357599628 |
79 | D>H | No |
ClinGen gnomAD |
|
|
rs1303492590 CA394816675 |
82 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1303492590 CA394816674 |
82 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1314838931 CA394816690 |
84 | V>I | No |
ClinGen TOPMed |
|
|
CA394816703 rs113355765 |
85 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs113355765 CA278547721 |
85 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA394816707 rs1401285014 |
85 | Q>R | No |
ClinGen TOPMed |
|
|
rs1454486789 CA394816720 |
87 | R>G | No |
ClinGen gnomAD |
|
|
CA394816722 rs1458447757 |
87 | R>K | No |
ClinGen TOPMed |
|
|
rs1386021178 CA394816728 |
88 | A>P | No |
ClinGen TOPMed |
|
| TCGA novel | 88 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394816743 rs1157680801 |
90 | R>G | No |
ClinGen TOPMed |
|
|
CA394816750 rs1295174533 |
90 | R>K | No |
ClinGen gnomAD |
|
|
CA394816755 rs1321167602 |
90 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
VAR_034141 CA7914423 rs1136474 |
93 | R>C | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
rs1214890299 CA394816793 |
93 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA394816800 rs1274692004 |
94 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA394816803 rs1310006621 |
94 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA394816831 rs1466376619 |
95 | R>K | No |
ClinGen TOPMed |
|
|
CA394817008 rs1431206502 |
101 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA394817016 rs1456796354 |
102 | V>F | No |
ClinGen TOPMed |
|
|
CA394817156 rs1271710791 |
108 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1189607910 CA394817154 |
108 | T>S | No |
ClinGen TOPMed |
|
|
CA394817182 rs1461937279 |
110 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA394817267 rs1188214151 |
115 | T>I | No |
ClinGen TOPMed |
|
|
CA394817343 rs1292059805 |
118 | R>* | No |
ClinGen TOPMed |
|
|
CA394817466 rs1218256056 |
122 | R>C | No |
ClinGen gnomAD |
|
|
rs1283415060 CA394817473 |
122 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1355477728 CA394817591 |
127 | T>I | No |
ClinGen TOPMed |
|
|
CA394817656 rs1275341923 |
131 | N>H | No |
ClinGen TOPMed |
|
|
rs1325113143 CA394817679 |
132 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1325113143 CA394817683 |
132 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1206230884 CA394817686 |
132 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA394817787 rs1268069454 |
137 | N>S | No |
ClinGen gnomAD |
|
|
CA394817904 rs1218470043 |
143 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA394818499 rs1401204949 |
155 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA394818576 rs1555533971 |
158 | G>E | No |
ClinGen Ensembl |
|
|
rs1404068331 CA394818573 |
158 | G>R | No |
ClinGen gnomAD |
|
|
rs1303406083 CA394818617 |
160 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1303406083 CA394818613 |
160 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1360955003 CA394818747 |
163 | Q>H | No |
ClinGen TOPMed |
|
|
CA394818754 rs1346942956 |
164 | V>M | No |
ClinGen gnomAD |
|
|
CA394819072 rs1181623100 |
183 | E>V | No |
ClinGen gnomAD |
|
|
rs1160261216 CA394819103 |
187 | R>H | No |
ClinGen gnomAD |
|
|
CA394819111 rs1411474055 |
188 | A>V | No |
ClinGen gnomAD |
|
|
CA394819116 rs1303464125 |
189 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1367127820 CA394819125 |
190 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1335863431 CA394819134 |
192 | R>Q | No |
ClinGen gnomAD |
|
|
rs755728127 CA7914424 |
192 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1282956756 CA394819139 |
193 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA394819138 rs1443678513 |
193 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1247255565 CA394819144 |
194 | R>Q | No |
ClinGen gnomAD |
|
|
rs1359265478 CA394819143 |
194 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA394819147 rs1282672687 |
195 | A>T | No |
ClinGen TOPMed |
|
|
CA394819152 rs1294384889 |
195 | A>V | No |
ClinGen gnomAD |
|
|
rs1012064652 CA278548227 |
197 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA394819169 rs1251465616 |
198 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA394819178 rs1439657055 |
199 | Y>N | No |
ClinGen gnomAD |
|
|
rs1411159012 CA394819239 |
206 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1382774973 CA394819295 |
214 | R>Q | No |
ClinGen gnomAD |
|
|
rs1331618342 CA394819294 |
214 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 215 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1486738808 CA394820262 |
217 | M>V | No |
ClinGen gnomAD |
|
|
CA394820277 rs1219905950 |
218 | A>T | No |
ClinGen gnomAD |
|
|
rs573061557 CA7914430 |
218 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202244802 CA278548316 |
220 | V>A | No |
ClinGen TOPMed |
|
|
rs202244802 CA394820325 |
220 | V>E | No |
ClinGen TOPMed |
|
|
rs1201035187 CA394820348 |
221 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 221 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567577904 CA394820393 |
223 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA7914432 rs747382403 |
223 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7914433 rs768939993 |
224 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776978922 CA7914434 |
226 | S>P | No |
ClinGen ExAC |
|
|
CA394820471 rs1365996801 |
227 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA394820536 rs1205386977 |
230 | Y>* | No |
ClinGen TOPMed |
|
|
CA394820531 rs1366489832 |
230 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA394820556 rs1486523185 |
231 | W>C | No |
ClinGen TOPMed |
|
|
CA394820566 rs1406969150 |
232 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA278548342 rs540473227 |
236 | A>V | No |
ClinGen 1000Genomes |
|
|
CA394820674 rs1214253426 |
238 | T>S | No |
ClinGen TOPMed |
|
|
rs983872763 CA394820704 |
239 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA394820745 rs1318584087 |
240 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1290746619 CA394820813 |
242 | R>K | No |
ClinGen gnomAD |
|
|
rs1224218890 CA394820887 |
244 | G>D | No |
ClinGen gnomAD |
|
|
rs1567577963 CA394820967 |
247 | P>R | No |
ClinGen Ensembl |
|
|
rs561960206 CA7914438 |
247 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1177207488 CA394820982 |
248 | P>L | No |
ClinGen gnomAD |
|
|
CA394821027 rs1364156164 |
250 | P>S | No |
ClinGen TOPMed |
|
|
rs1253363641 CA394821061 |
251 | T>I | No |
ClinGen gnomAD |
|
|
CA394821135 rs1287257370 |
254 | H>P | No |
ClinGen TOPMed |
|
|
CA394821164 rs1386217575 |
255 | S>C | No |
ClinGen gnomAD |
|
|
CA394821161 rs1386217575 |
255 | S>F | No |
ClinGen gnomAD |
|
|
CA7914441 rs775203405 |
256 | I>R | No |
ClinGen ExAC gnomAD |
|
|
rs199842770 CA7914440 |
256 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7914443 rs763938302 |
257 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375520362 CA394821228 |
258 | D>G | No |
ClinGen gnomAD |
|
|
rs753526176 CA7914444 |
258 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1462124569 CA394821259 |
260 | S>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 262 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 263 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394821325 COSM3932223 rs1383302224 |
264 | K>R | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs756902729 CA7914445 |
265 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs749931118 CA7914447 |
266 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394821375 rs201084206 |
267 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA7914448 rs201084206 |
267 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs376915249 CA7914450 |
267 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7914453 COSM3711939 rs201805072 |
268 | E>K | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA394821397 rs201805072 |
268 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1252529344 CA394821410 |
268 | E>V | No |
ClinGen gnomAD |
|
|
rs146043318 CA7914457 |
269 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146043318 CA7914458 |
269 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7914459 rs755386486 |
269 | C>S | No |
ClinGen ExAC TOPMed |
|
|
CA394821433 rs755386486 |
269 | C>Y | No |
ClinGen ExAC TOPMed |
|
|
rs143191947 CA7914462 COSM388411 |
270 | L>Q | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs201224825 CA7914460 |
270 | L>V | No |
ClinGen TOPMed |
|
|
CA7914463 rs748376210 |
271 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs748376210 CA394821465 |
271 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs201684129 CA7914465 |
272 | T>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs200475524 CA7914464 |
272 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7914467 rs551699140 |
273 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1403963303 CA394821522 |
274 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA394821552 rs1567578072 |
275 | P>L | No |
ClinGen Ensembl |
|
|
rs771941642 CA7914469 |
276 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7914470 rs775396083 |
278 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA394821639 rs1316742029 |
279 | L>P | No |
ClinGen TOPMed |
|
|
rs1454434484 CA394821631 |
279 | L>V | No |
ClinGen gnomAD |
|
|
CA7914472 rs760674020 |
280 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1254353583 CA394821678 |
281 | S>A | No |
ClinGen TOPMed |
|
|
rs1222286600 CA394821688 |
281 | S>L | No |
ClinGen gnomAD |
|
|
CA394821709 rs527981668 |
282 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394821693 rs1297223508 |
282 | A>T | No |
ClinGen gnomAD |
|
|
rs527981668 CA7914475 |
282 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1264310473 CA394821753 |
283 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA394821718 rs1202422912 |
283 | D>N | No |
ClinGen gnomAD |
|
|
CA394821737 rs1196795939 |
283 | D>V | No |
ClinGen TOPMed |
|
|
CA7914478 rs764800623 |
284 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1052209077 CA278548566 |
285 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA7914479 rs749890908 |
285 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA394821819 rs1188541992 |
286 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA394821875 rs757966844 |
287 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA278548570 rs549699493 |
288 | T>A | No |
ClinGen 1000Genomes |
|
|
rs567612986 CA7914482 |
288 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1429989389 CA394821904 |
289 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7914483 rs752078203 |
289 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA278548588 rs200290521 |
290 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs200290521 CA394821907 |
290 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs200290521 CA7914485 |
290 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7914486 rs535106768 |
290 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA278548630 rs75494828 |
292 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs75494828 CA278548626 |
292 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1299658818 CA394821990 |
293 | L>P | No |
ClinGen gnomAD |
|
|
rs199729161 CA278548655 |
295 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
rs200455124 CA278548657 |
295 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA394822046 rs1326328858 |
296 | P>S | No |
ClinGen gnomAD |
|
|
CA394822102 rs1317926369 |
298 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs923975126 CA278548664 |
298 | P>S | No |
ClinGen TOPMed |
|
|
rs1218298116 CA394822104 |
299 | P>T | No |
ClinGen gnomAD |
|
|
rs749573065 COSM1301649 CA7914491 |
301 | A>V | NS urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
rs1490247522 CA394822184 |
302 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7914494 rs539477828 |
303 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394822204 rs1376954087 |
303 | D>G | No |
ClinGen TOPMed |
|
|
rs1413370535 CA394822211 |
304 | N>D | No |
ClinGen TOPMed |
|
|
rs768500200 CA7914495 |
304 | N>K | No |
ClinGen ExAC |
|
|
CA7914497 rs761525695 |
306 | K>M | No |
ClinGen ExAC |
|
|
rs769686955 CA7914498 |
307 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394822264 rs1156774727 |
309 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs772992912 CA7914499 |
309 | P>H | No |
ClinGen ExAC |
|
|
CA394822267 rs772992912 |
309 | P>R | No |
ClinGen ExAC |
|
|
rs751133965 CA7914502 |
310 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751133965 CA394822269 |
310 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760078140 CA7914507 |
311 | C>F | No |
ClinGen ExAC |
|
|
rs760078140 CA394822288 |
311 | C>Y | No |
ClinGen ExAC |
|
|
CA394822295 rs1440230426 |
312 | L>V | No |
ClinGen gnomAD |
|
|
CA7914510 rs147546015 |
313 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147546015 CA394822304 |
313 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394822312 rs1403918769 |
314 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1303281701 CA394822320 |
314 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1303281701 CA394822317 |
314 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA394822315 rs1403918769 |
314 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1439340650 CA394822334 |
316 | L>F | No |
ClinGen gnomAD |
|
|
CA394822344 rs1352019957 |
317 | P>L | No |
ClinGen gnomAD |
|
|
CA7914511 rs756425275 |
317 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs778271375 CA394822352 |
318 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778271375 CA7914512 |
318 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290984990 CA394822362 |
319 | S>* | No |
ClinGen TOPMed |
|
|
CA394822369 rs754028828 |
320 | A>G | No |
ClinGen ExAC TOPMed |
|
|
CA394822363 rs1223530936 |
320 | A>T | No |
ClinGen gnomAD |
|
|
CA7914513 rs754028828 |
320 | A>V | No |
ClinGen ExAC TOPMed |
|
|
rs757524809 CA7914514 |
321 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143169798 CA394822383 |
322 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs533738716 CA7914517 |
322 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7914515 rs143169798 |
322 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7914516 rs143169798 |
322 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA278548850 rs372137266 |
324 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA394822402 rs372137266 |
324 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA394822425 rs773186910 |
326 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773186910 CA7914522 |
326 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151132626 CA7914521 |
326 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7914523 rs762641516 |
327 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394822436 rs1392347033 |
327 | N>S | No |
ClinGen gnomAD |
|
|
rs770737013 CA7914524 |
328 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140213133 CA7914525 |
329 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758984752 CA7914526 |
330 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1227377629 CA394822462 |
330 | T>S | No |
ClinGen TOPMed |
|
|
rs1382542968 CA394822474 |
331 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7914527 rs767115252 |
331 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7914528 rs753143717 |
332 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1271408403 CA394822480 |
332 | P>S | No |
ClinGen TOPMed |
|
|
CA278548902 rs375123469 |
333 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA7914529 rs761287907 |
334 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA394822512 rs754224580 |
335 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7914531 rs754224580 |
335 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394822534 rs765450646 |
336 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447664971 CA394822541 |
337 | S>* | No |
ClinGen TOPMed |
|
|
rs750700394 CA7914535 |
337 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394822550 rs1369909013 |
338 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA394822547 rs1369909013 |
338 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1369909013 CA394822548 |
338 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA394822565 rs1396623296 |
339 | P>H | No |
ClinGen gnomAD |
|
|
rs1396623296 CA394822562 |
339 | P>R | No |
ClinGen gnomAD |
|
|
rs1166863403 CA394822559 |
339 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7914538 rs780222711 |
341 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs780222711 CA394822587 |
341 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1405920579 CA394822584 |
341 | H>Y | No |
ClinGen gnomAD |
|
|
CA7914540 rs756095519 |
342 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs573961007 CA7914539 |
342 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7914541 rs777668160 |
343 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1226937911 CA394822600 |
343 | Q>K | No |
ClinGen gnomAD |
|
|
CA394822601 rs1270939993 |
343 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1270939993 CA394822603 |
343 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs774137205 CA7914544 |
344 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1059233 COSM1493525 CA7914543 |
344 | R>W | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs775116015 CA394822623 CA7914547 |
345 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA394822619 rs1567578454 |
345 | M>T | No |
ClinGen Ensembl |
|
|
CA7914546 rs771455707 |
345 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA7914548 rs761038954 |
346 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1373223761 CA394822634 |
346 | I>M | No |
ClinGen gnomAD |
|
|
CA7914550 rs776916565 |
347 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764619451 CA7914549 |
347 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394822637 rs1478525588 |
347 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs79241784 CA7914551 |
348 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1228769976 CA394822666 |
350 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA394822670 rs1455512932 |
350 | N>K | No |
ClinGen TOPMed |
|
|
rs765655232 CA7914553 |
351 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1174377255 CA718395024 |
351 | N>L | No |
ClinGen TOPMed |
No associated diseases with Q9UND3
No regional properties for Q9UND3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9UND3 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| nuclear membrane | Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. |
| 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. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| mRNA transport | The directed movement of mRNA, messenger ribonucleic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| E9PJI5 | NPIPA7 | Nuclear pore complex-interacting protein family member A7 | Homo sapiens (Human) | PR |
| P0DM63 | NPIPA8 | Nuclear pore complex-interacting protein family member A8 | Homo sapiens (Human) | PR |
| F8WFD2 | NPIPA3 | Nuclear pore complex-interacting protein family member A3 | Homo sapiens (Human) | PR |
| E9PIF3 | NPIPA2 | Nuclear pore complex-interacting protein family member A2 | Homo sapiens (Human) | PR |
| E9PKD4 | NPIPA5 | Nuclear pore complex-interacting protein family member A5 | Homo sapiens (Human) | PR |
| A6NJ64 | NPIPB2 | Putative nuclear pore complex-interacting protein family member B2 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MFCCLGYEWL | SGGCKTWHSA | WVINTLADHR | HRGTDFGGSP | WLLIITVFLR | SYKFAISLCT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SYLCVSFLKT | IFPSQNGHDG | STDVQQRARR | SNRRRQEGIK | IVLEDIFTLW | RQVETKVRAK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IRKMKVTTKV | NRHDKINGKR | KTAKEHLRKL | SMKEREHGEK | ERQVSEAEEN | GKLDMKEIHT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YMEMFQRAQA | LRRRAEDYYR | CKITPSARKP | LCNRVRMAAV | EHRHSSGLPY | WPYLTAETLK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NRMGHQPPPP | TQQHSIIDNS | LSLKTPSECL | LTPLPPSALP | SADDNLKTPA | ECLLYPLPPS |
| 310 | 320 | 330 | 340 | ||
| ADDNLKTPPE | CLLTPLPPSA | PPSVDDNLKT | PPECVCSLPF | HPQRMIISRN |