Q9Y6X4
PR
Gene name |
FAM169A (KIAA0888) |
Protein name |
Soluble lamin-associated protein of 75 kDa |
Names |
SLAP75, Protein FAM169A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:26049 |
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 Q9Y6X4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9Y6X4-F1 | Predicted | AlphaFoldDB |
436 variants for Q9Y6X4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA121538932 rs1045908947 |
2 | A>G | No |
ClinGen TOPMed |
|
|
rs1296441351 CA360115251 COSM1438556 |
2 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs950283137 CA121538930 |
3 | F>Y | No |
ClinGen TOPMed |
|
|
rs1359267728 CA360115234 |
4 | P>L | No |
ClinGen gnomAD |
|
|
rs760949440 CA3307655 |
7 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 9 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360115194 rs1179300181 |
10 | N>S | No |
ClinGen TOPMed |
|
|
rs1410697893 CA360115188 |
11 | C>G | No |
ClinGen TOPMed |
|
|
rs1381822549 CA360115181 |
12 | S>G | No |
ClinGen gnomAD |
|
|
COSM1438555 rs773364018 CA3307654 |
12 | S>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3307652 rs762026986 |
13 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1483598787 CA360115145 |
17 | E>K | No |
ClinGen gnomAD |
|
|
CA360115135 rs1472350036 |
18 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1237004441 COSM260772 CA360115124 |
19 | S>F | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs769311951 CA3307650 |
20 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287096598 CA360115115 |
21 | E>A | No |
ClinGen gnomAD |
|
|
rs775923987 CA3307648 |
22 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs770119051 CA3307647 |
23 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3307645 CA360115090 rs780753857 |
24 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1393490643 CA360115092 |
24 | M>T | No |
ClinGen TOPMed |
|
|
rs756728145 CA3307644 |
25 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA3307643 rs555449189 |
29 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360115052 rs1298441500 |
30 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3307642 rs777637953 |
30 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3307640 rs752644775 |
31 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA121538918 rs868102213 |
33 | E>D | No |
ClinGen Ensembl |
|
|
CA3307637 rs750628098 |
33 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3307638 rs754779943 |
33 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360115018 rs1310492047 |
35 | P>L | No |
ClinGen TOPMed |
|
|
CA360115019 rs1310492047 |
35 | P>R | No |
ClinGen TOPMed |
|
|
rs936016806 CA121538916 |
36 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA360115012 rs1485776513 |
36 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA360115005 rs1264100167 |
37 | C>F | No |
ClinGen gnomAD |
|
|
rs1478878205 CA360115009 |
37 | C>R | No |
ClinGen gnomAD |
|
|
rs1216170209 CA360115003 |
37 | C>W | No |
ClinGen gnomAD |
|
|
rs1485393307 CA360114999 |
38 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA360114991 rs1480533817 |
39 | S>C | No |
ClinGen TOPMed |
|
|
rs146415196 CA3307635 |
39 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3307636 rs146415196 |
39 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774589874 CA3307634 |
42 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201891320 CA3307633 |
44 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360114948 rs1387648723 |
45 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs999288211 CA121538596 |
46 | P>A | No |
ClinGen Ensembl |
|
| TCGA novel | 46 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3307618 rs367755871 |
47 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757561995 CA3307617 |
48 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3307615 rs764252136 |
51 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 55 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360114885 rs1476768014 |
55 | V>L | No |
ClinGen Ensembl |
|
| TCGA novel | 61 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs527483299 CA3307611 |
62 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3307610 rs770502833 |
63 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3307609 rs770502833 |
63 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA121538583 rs1056830469 |
68 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 69 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360114767 rs1171086110 |
73 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1300321647 CA360114763 |
73 | E>V | No |
ClinGen TOPMed |
|
|
CA3307608 rs760308189 |
75 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA360114716 COSM739243 rs1561317470 |
79 | V>L | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA3307590 rs761070506 |
82 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360114672 rs1373859545 |
86 | Q>E | No |
ClinGen gnomAD |
|
|
rs772813394 CA3307589 |
86 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360114660 rs1421221100 |
87 | W>* | No |
ClinGen gnomAD |
|
|
rs771647990 CA3307588 |
89 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs368160676 CA3307587 |
90 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768282806 CA3307585 |
93 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3307586 rs773742094 |
93 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1561317445 CA360114590 |
98 | V>I | No |
ClinGen Ensembl |
|
|
rs778247327 CA121538314 |
100 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1320422576 CA360114565 |
102 | E>Q | No |
ClinGen gnomAD |
|
|
rs1561317416 CA360114555 |
103 | G>E | No |
ClinGen Ensembl |
|
|
rs1200693408 CA360114550 |
104 | L>F | No |
ClinGen TOPMed |
|
|
CA121538311 rs375147808 |
105 | K>N | No |
ClinGen ESP TOPMed |
|
|
rs372934166 CA121537285 |
108 | S>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3307571 rs767133707 |
110 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs767133707 CA3307570 |
110 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA121537281 rs770317810 COSM3828406 |
113 | R>T | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1453702183 CA360114469 |
115 | V>I | No |
ClinGen gnomAD |
|
|
CA360114450 rs1347916316 |
118 | V>I | No |
ClinGen TOPMed |
|
|
CA360114345 rs1580142488 |
132 | N>S | No |
ClinGen Ensembl |
|
|
CA360114337 rs1254106652 |
133 | E>G | No |
ClinGen gnomAD |
|
|
CA3307569 rs528471860 |
134 | I>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 140 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360114288 rs1348035632 |
140 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 141 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3307567 rs763486683 |
142 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs370292503 CA121537274 |
144 | Y>C | No |
ClinGen ESP |
|
|
CA360114263 rs1338965964 |
144 | Y>N | No |
ClinGen gnomAD |
|
|
CA360114214 rs1268650341 |
150 | K>N | No |
ClinGen gnomAD |
|
|
CA3307566 rs375723579 |
151 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 156 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1326435148 CA360114138 |
161 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3307564 rs769871676 |
162 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1233375582 CA360084227 |
165 | S>N | No |
ClinGen gnomAD |
|
|
rs1442220099 CA360084209 COSM1070039 |
166 | I>T | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs78914275 CA3307551 |
166 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs267600686 CA120943334 |
171 | L>F | No |
ClinGen Ensembl |
|
|
rs1294484806 CA360084144 |
171 | L>R | No |
ClinGen TOPMed |
|
|
CA3307547 rs775151798 |
178 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1207138465 CA360083931 |
182 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 183 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3307546 rs765198489 |
183 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1488040408 CA360083762 |
191 | G>D | No |
ClinGen TOPMed |
|
|
rs1006450804 CA120943293 |
191 | G>S | No |
ClinGen Ensembl |
|
|
rs373598356 CA3307545 |
193 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs776688750 CA3307544 |
194 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA360083692 rs1469647054 |
195 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1561303314 CA360083598 |
200 | E>K | No |
ClinGen Ensembl |
|
|
CA360083533 rs1486117456 |
203 | V>A | No |
ClinGen gnomAD |
|
|
rs770601324 CA3307543 |
204 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA360083489 rs1209817739 |
205 | S>C | No |
ClinGen gnomAD |
|
|
rs1309014611 CA360083457 |
207 | T>I | No |
ClinGen gnomAD |
|
|
rs1259587051 CA360083431 |
209 | D>H | No |
ClinGen TOPMed |
|
|
CA3307541 rs138216772 |
210 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 212 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA120943259 rs868101606 |
214 | R>L | No |
ClinGen gnomAD |
|
|
CA360083342 rs868101606 |
214 | R>P | No |
ClinGen gnomAD |
|
|
CA360083351 rs1186701004 |
214 | R>W | No |
ClinGen TOPMed |
|
|
rs1311899244 CA360083301 |
216 | P>L | No |
ClinGen gnomAD |
|
|
rs1580116763 CA360083279 |
218 | S>Y | No |
ClinGen Ensembl |
|
|
rs746343462 CA3307536 |
220 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746343462 CA3307537 |
220 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757518947 CA3307534 |
221 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs781740236 CA3307535 |
221 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1256999710 CA360083196 |
222 | Y>C | No |
ClinGen gnomAD |
|
|
CA3307533 rs751973248 |
222 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360083176 rs1373057251 |
223 | T>K | No |
ClinGen TOPMed |
|
|
CA360083179 rs1314201245 |
223 | T>S | No |
ClinGen TOPMed |
|
|
CA360081592 rs1381943494 |
224 | A>G | No |
ClinGen gnomAD |
|
|
CA120935422 rs893681414 |
225 | C>G | No |
ClinGen TOPMed |
|
|
rs893681414 CA360081589 |
225 | C>R | No |
ClinGen TOPMed |
|
|
CA360081587 rs1360352925 |
225 | C>S | No |
ClinGen gnomAD |
|
|
rs747269376 CA3307514 |
226 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1262588087 CA360081578 |
226 | K>R | No |
ClinGen TOPMed |
|
|
rs758890613 CA3307512 |
230 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1373804688 CA360081541 |
231 | K>T | No |
ClinGen gnomAD |
|
|
CA3307511 rs371824199 |
232 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 233 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360081529 rs1427648595 |
233 | P>T | No |
ClinGen gnomAD |
|
|
rs151276041 CA120935382 |
234 | G>A | No |
ClinGen 1000Genomes |
|
|
rs754397593 CA360081497 |
235 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1199244985 CA360081512 |
235 | D>N | No |
ClinGen TOPMed |
|
|
CA3307508 rs753403538 |
237 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs916410188 CA120935366 |
238 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1481329812 CA360081458 |
238 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
rs867037018 CA120935342 |
242 | V>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 244 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750388272 CA3307505 |
245 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3307504 rs767281829 |
247 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3307502 rs775645580 |
248 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA360081302 rs1397327795 |
249 | Y>C | No |
ClinGen gnomAD |
|
|
rs1333118040 CA360081272 |
251 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3307500 rs759473729 |
252 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs549578830 CA120935310 |
253 | P>T | No |
ClinGen Ensembl |
|
|
CA360081215 rs1486354008 |
255 | T>A | No |
ClinGen gnomAD |
|
|
CA360081108 rs1196710443 |
266 | L>V | No |
ClinGen gnomAD |
|
|
CA3307496 rs773904751 |
267 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs765374618 CA3307482 |
268 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA120934852 rs765374618 |
268 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA120934845 rs975258106 |
271 | N>D | No |
ClinGen Ensembl |
|
|
rs759797736 CA3307481 |
271 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766459254 CA3307479 |
273 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs370466739 CA3307478 |
274 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360080710 rs1236885978 |
275 | R>K | No |
ClinGen gnomAD |
|
|
rs772720443 CA3307476 |
276 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772720443 CA3307477 |
276 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1357480084 CA360080703 |
276 | P>S | No |
ClinGen gnomAD |
|
|
CA360080699 rs1353845101 |
277 | M>K | No |
ClinGen gnomAD |
|
|
CA3307475 rs748457895 |
277 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3307474 rs774853514 |
279 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360080682 rs1383769761 |
280 | E>K | No |
ClinGen gnomAD |
|
|
rs768962140 CA3307473 |
281 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1580101719 COSM390250 CA360080665 |
282 | G>C | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 282 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779616877 CA3307471 |
283 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA120934753 rs907431799 |
286 | V>I | No |
ClinGen TOPMed |
|
|
COSM196002 CA120934733 rs1022925315 |
290 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs760055872 CA3307468 |
292 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs569616909 CA120934716 |
293 | T>A | No |
ClinGen 1000Genomes |
|
|
CA360080593 rs1207412978 |
294 | E>K | No |
ClinGen gnomAD |
|
|
rs550902511 CA3307465 |
295 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA120934699 rs758175782 |
296 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3307464 rs758175782 |
296 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360080561 rs766649164 |
298 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA120934688 rs766649164 |
298 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA3307463 rs766649164 |
298 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3307462 rs766540548 |
299 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs773430873 CA3307460 |
301 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs760779464 CA3307461 |
301 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360080536 rs1317434988 |
302 | Q>* | No |
ClinGen gnomAD |
|
|
rs767774805 CA3307459 |
302 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA360080535 rs1432766941 |
302 | Q>L | No |
ClinGen gnomAD |
|
|
rs780255559 CA3307440 |
305 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756399557 CA360080502 |
306 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM351261 CA3307439 rs756399557 |
306 | D>Y | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA360080490 rs1268361274 |
307 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA360080477 rs1246483975 |
309 | K>E | No |
ClinGen TOPMed |
|
|
CA120932104 rs199645198 |
310 | D>H | No |
ClinGen Ensembl |
|
|
CA3307435 rs190837101 |
314 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360080373 rs1193596925 |
316 | S>A | No |
ClinGen gnomAD |
|
|
CA3307433 rs763322835 |
317 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA360080265 rs1302619174 |
319 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1355766742 CA360080270 |
319 | H>Y | No |
ClinGen gnomAD |
|
|
CA360080240 rs1446293286 |
321 | K>E | No |
ClinGen gnomAD |
|
|
rs753307636 CA3307413 |
321 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3307412 rs756307572 |
325 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360080139 rs1167238319 COSM1661756 |
328 | T>I | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs776227016 CA3307410 |
329 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs368190713 CA3307409 |
329 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3307408 COSM1070038 rs368190713 |
329 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA360080089 rs1368305060 |
332 | N>S | No |
ClinGen gnomAD |
|
|
rs771668934 CA3307406 COSM271248 |
335 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3307407 rs772593005 |
335 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3307405 rs748011580 |
336 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs891739000 CA120931431 |
338 | I>M | No |
ClinGen TOPMed |
|
|
rs1265664656 CA360080021 |
338 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 339 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1476348266 CA360079991 |
340 | K>R | No |
ClinGen gnomAD |
|
|
rs1311571860 CA360079976 |
341 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs768529089 COSM1251806 CA3307403 |
341 | R>W | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 345 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1181663777 CA360079890 |
348 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs199845958 CA3307402 |
349 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3307401 rs781503395 |
351 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs757562138 CA3307400 |
352 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs568496447 CA3307398 |
354 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360079786 rs554555834 |
355 | E>D | No |
ClinGen 1000Genomes TOPMed |
|
|
CA3307397 rs374275749 |
357 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360079739 rs1561295637 |
359 | Q>* | No |
ClinGen Ensembl |
|
|
rs765765816 CA3307395 |
360 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3307394 rs755287315 |
361 | S>T | No |
ClinGen ExAC |
|
|
rs894220342 CA120931355 |
363 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 364 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747179517 CA3307380 |
372 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1448644637 CA360078829 |
373 | A>T | No |
ClinGen gnomAD |
|
|
COSM1438550 CA3307379 rs778097956 |
374 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs758371881 CA3307378 |
374 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370066047 CA3307377 |
375 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1408787197 CA360078809 |
376 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1475182933 CA360078797 |
378 | S>N | No |
ClinGen Ensembl |
|
|
rs1052362939 CA360078711 |
384 | E>G | No |
ClinGen gnomAD |
|
|
CA120927004 rs1052362939 |
384 | E>V | No |
ClinGen gnomAD |
|
|
rs1204803741 CA360078682 |
386 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 386 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 386 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 387 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360078610 rs1299282572 |
389 | Q>H | No |
ClinGen gnomAD |
|
|
rs1235640143 CA360078627 |
389 | Q>K | No |
ClinGen gnomAD |
|
|
rs754400392 CA3307373 |
389 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1393224831 CA360078587 |
391 | G>R | No |
ClinGen gnomAD |
|
|
CA3307372 rs766705681 |
392 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs756539327 CA3307371 |
394 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360078530 rs1428808260 |
394 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs796831146 CA120926954 |
395 | E>G | No |
ClinGen gnomAD |
|
|
rs750000547 CA3307370 |
396 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3307369 rs767219294 |
399 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3307368 rs761167611 |
399 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs767219294 CA360078446 |
399 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763767440 CA3307366 |
400 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs769448266 CA3307363 |
402 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775620517 CA3307364 |
402 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360078369 rs1344912286 |
403 | A>G | No |
ClinGen gnomAD |
|
|
CA3307362 rs181875341 |
403 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA120926901 rs987197813 |
404 | R>P | No |
ClinGen Ensembl |
|
|
rs199566684 COSM244372 CA3307360 |
404 | R>W | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA360078339 rs1317614696 |
405 | P>L | No |
ClinGen gnomAD |
|
|
rs748160152 CA3307359 |
408 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA360078299 rs1580088084 |
408 | E>K | No |
ClinGen Ensembl |
|
|
CA3307358 rs778950987 |
409 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA3307357 rs200829237 |
410 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1271519991 CA360078227 |
411 | P>L | No |
ClinGen TOPMed |
|
|
CA120926858 rs201128568 |
416 | Q>R | No |
ClinGen Ensembl |
|
|
CA3307355 rs780568834 |
417 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs539857601 CA120926841 |
417 | D>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA360078028 rs1170778560 |
420 | K>E | No |
ClinGen gnomAD |
|
|
rs1026277660 CA120926835 |
420 | K>R | No |
ClinGen Ensembl |
|
|
CA360075543 rs1277049117 |
421 | E>A | No |
ClinGen TOPMed |
|
|
CA3307333 rs781610478 |
423 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369687897 CA120913557 |
425 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369687897 CA3307332 |
425 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1456968157 CA360075460 |
427 | M>I | No |
ClinGen TOPMed |
|
|
CA3307330 rs777602574 |
427 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA360075471 rs1296791784 |
427 | M>V | No |
ClinGen gnomAD |
|
|
CA360075431 rs1396001308 |
429 | G>R | No |
ClinGen gnomAD |
|
|
rs542312668 CA3307328 |
432 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752150913 CA120913537 |
434 | D>N | No |
ClinGen Ensembl |
|
|
rs1239652067 CA360075317 |
435 | S>Y | No |
ClinGen TOPMed |
|
|
CA360075244 rs1169950894 |
440 | L>F | No |
ClinGen gnomAD |
|
|
CA3307325 rs753768291 |
441 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754939341 CA3307326 |
441 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456004709 CA360075159 |
446 | D>N | No |
ClinGen gnomAD |
|
|
CA3307323 rs576419179 |
447 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1198336312 CA360075139 |
448 | T>A | No |
ClinGen gnomAD |
|
|
CA360075134 rs1450072787 |
448 | T>N | No |
ClinGen gnomAD |
|
|
CA3307322 rs774506364 |
453 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 458 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1039153377 CA120913521 |
462 | N>Y | No |
ClinGen TOPMed |
|
|
CA360074941 rs1333531165 |
464 | S>T | No |
ClinGen TOPMed |
|
|
rs971723644 CA120913517 |
465 | E>K | No |
ClinGen gnomAD |
|
|
CA3307320 rs762951169 |
467 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs775631632 CA120913513 |
468 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs775631632 CA3307319 |
468 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1273536278 CA360074859 |
472 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 473 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360074839 rs1227442159 |
474 | V>A | No |
ClinGen gnomAD |
|
|
CA3307318 rs769825795 |
474 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA120913507 rs769825795 |
474 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA3307317 rs746368964 |
475 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1328928830 CA360074817 |
476 | E>D | No |
ClinGen gnomAD |
|
|
rs1273436015 CA360074824 |
476 | E>K | No |
ClinGen TOPMed |
|
|
CA3307315 rs771385257 |
479 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 480 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360074782 rs1370316180 |
480 | P>T | No |
ClinGen gnomAD |
|
|
rs1167147744 CA360074768 |
481 | P>S | No |
ClinGen gnomAD |
|
|
rs777512485 CA3307313 |
483 | V>I | No |
ClinGen ExAC |
|
|
rs556154499 CA3307312 |
484 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1561284532 CA360074721 |
485 | A>G | No |
ClinGen Ensembl |
|
|
CA3307311 rs747823067 |
485 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3307310 rs778463540 |
487 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA120913452 rs377550660 |
488 | K>R | No |
ClinGen Ensembl |
|
|
rs368694395 CA3307290 |
491 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374956471 CA3307289 |
491 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3307288 rs750413505 |
493 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs371938643 CA120913066 |
497 | M>I | No |
ClinGen ESP TOPMed |
|
|
rs780946933 CA3307287 |
497 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 500 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752927250 CA3307285 |
500 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA360074051 rs1446451984 |
502 | G>D | No |
ClinGen gnomAD |
|
|
rs1470407766 CA360074060 |
502 | G>R | No |
ClinGen TOPMed |
|
|
rs1028051085 CA120913057 |
505 | D>E | No |
ClinGen TOPMed |
|
|
rs759604131 CA3307283 |
507 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs376813747 CA3307282 |
508 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA120913050 rs371864950 |
509 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371864950 CA3307281 |
509 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3307280 rs761251851 |
510 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA3307279 rs76455982 |
511 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1408401319 CA360073883 |
511 | E>V | No |
ClinGen TOPMed |
|
|
COSM1070035 CA3307277 rs762105709 |
512 | E>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3307278 rs772524411 |
512 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs749034401 CA3307274 |
514 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360073808 rs749034401 |
514 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3307273 rs779521505 |
518 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs370799481 CA3307272 |
521 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745777551 CA3307271 |
524 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360073539 rs1223267392 |
528 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA360073520 rs1224735274 |
529 | N>S | No |
ClinGen TOPMed |
|
|
CA3307269 rs200581593 |
532 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3307268 rs367549146 |
533 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 534 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1367885777 CA360073431 |
534 | S>A | No |
ClinGen gnomAD |
|
|
rs755152850 CA3307266 CA3307267 |
535 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360073386 rs1469738326 |
536 | E>A | No |
ClinGen gnomAD |
|
|
rs754171202 CA3307265 |
538 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1438127829 CA360073301 |
539 | S>C | No |
ClinGen TOPMed |
|
|
CA120913009 rs373680649 |
539 | S>P | No |
ClinGen ESP |
|
|
CA360073298 rs1438127829 |
539 | S>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 541 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360073183 rs1295403190 |
546 | S>C | No |
ClinGen gnomAD |
|
|
CA3307263 rs760867519 |
547 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs750910675 CA3307262 |
548 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs370543126 CA3307261 |
549 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3307258 rs376237156 |
553 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3307257 rs762488210 |
554 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs934465501 CA120912980 |
555 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA360072994 rs1488566417 |
556 | V>F | No |
ClinGen gnomAD |
|
|
CA3307255 rs769257239 |
558 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs745409844 CA3307254 |
560 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3307253 rs781053449 |
561 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA360072874 rs1340736380 |
562 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1303493624 CA360072867 |
562 | P>R | No |
ClinGen gnomAD |
|
|
rs1580066127 CA360072854 |
563 | N>T | No |
ClinGen Ensembl |
|
|
rs1420514631 CA360072812 |
565 | T>A | No |
ClinGen TOPMed |
|
|
rs1405052965 CA360072795 |
565 | T>I | No |
ClinGen TOPMed |
|
|
rs770779241 CA360072748 |
568 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1561283643 CA360072704 |
569 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 570 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202200617 CA3307251 |
571 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777418837 CA3307250 |
574 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs749480569 CA3307248 |
575 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3307249 rs749480569 |
575 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 578 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360072441 rs1429026805 |
579 | P>H | No |
ClinGen gnomAD |
|
|
rs780444572 CA3307246 |
580 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780444572 CA120912941 |
580 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177537006 CA360072386 |
582 | T>A | No |
ClinGen gnomAD |
|
|
CA360072359 rs756205252 |
583 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3307245 rs756205252 |
583 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325284186 CA360072353 |
584 | T>A | No |
ClinGen TOPMed |
|
|
CA3307243 rs767699747 |
586 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1483860612 CA360072287 |
587 | P>L | No |
ClinGen gnomAD |
|
|
rs1252973437 CA360072272 |
588 | Q>R | No |
ClinGen gnomAD |
|
|
rs910701702 CA120912936 |
591 | L>W | No |
ClinGen TOPMed |
|
|
rs370884414 CA3307241 |
592 | I>V | No |
ClinGen ESP ExAC |
|
|
rs764331056 CA3307240 |
594 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs553702150 CA3307238 |
599 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 602 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1237212437 CA360072026 |
602 | S>P | No |
ClinGen gnomAD |
|
|
rs377658529 CA3307236 |
605 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 611 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs572085553 CA120912916 |
612 | E>K | No |
ClinGen TOPMed |
|
|
rs1409006592 CA360071789 |
613 | E>D | No |
ClinGen gnomAD |
|
|
CA3307234 rs770532392 |
613 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1445298875 CA360071804 |
613 | E>K | No |
ClinGen TOPMed |
|
|
CA360071775 rs1195403016 |
614 | Q>R | No |
ClinGen TOPMed |
|
|
CA120912911 rs574608618 |
615 | S>P | No |
ClinGen 1000Genomes |
|
|
CA3307232 rs773243071 |
619 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs201025077 CA120912899 |
620 | E>K | No |
ClinGen TOPMed |
|
|
CA3307231 rs771713405 |
621 | Q>* | No |
ClinGen ExAC |
|
|
CA360071660 rs1158509183 |
623 | D>N | No |
ClinGen TOPMed |
|
|
rs1038556966 CA120912885 |
627 | Q>L | No |
ClinGen TOPMed |
|
|
CA360071578 rs1038556966 |
627 | Q>R | No |
ClinGen TOPMed |
|
|
rs554768931 CA120912882 |
628 | S>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA3307227 rs369288865 |
629 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360071527 rs781105582 |
631 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA360071518 rs1361256553 |
632 | A>T | No |
ClinGen TOPMed |
|
|
CA360071512 rs1201493033 |
632 | A>V | No |
ClinGen gnomAD |
|
|
rs866010178 CA120912867 |
633 | V>A | No |
ClinGen Ensembl |
|
|
CA360071511 rs1483234923 |
633 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 636 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360071402 rs1287990478 |
640 | I>T | No |
ClinGen gnomAD |
|
|
CA3307223 rs764687081 |
642 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1373749729 CA360071377 |
643 | E>Q | No |
ClinGen gnomAD |
|
|
rs961984268 CA120912852 |
646 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs961984268 CA360071356 |
646 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA360071349 rs1334040655 |
647 | V>A | No |
ClinGen gnomAD |
|
|
CA3307222 rs758708052 |
647 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458370910 CA360071341 |
648 | D>E | No |
ClinGen gnomAD |
|
|
rs1460946041 CA360071335 |
649 | R>K | No |
ClinGen TOPMed |
|
|
CA3307221 rs753068782 |
650 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360071317 rs1158000950 |
652 | L>S | No |
ClinGen gnomAD |
|
|
rs369250258 CA3307220 |
653 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3307219 rs375344386 |
654 | R>K | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1370537783 CA360071292 |
656 | A>T | No |
ClinGen gnomAD |
|
|
CA360071283 rs1423678658 |
657 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 660 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3307217 rs777501979 |
663 | A>V | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9Y6X4
5 regional properties for Q9Y6X4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | ATP-dependent RNA helicase DEAD-box, conserved site | 172 - 180 | IPR000629 |
| domain | Helicase, C-terminal | 237 - 398 | IPR001650 |
| domain | DEAD/DEAH box helicase domain | 50 - 212 | IPR011545 |
| domain | Helicase superfamily 1/2, ATP-binding domain | 44 - 241 | IPR014001 |
| domain | RNA helicase, DEAD-box type, Q motif | 25 - 53 | IPR014014 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| nuclear inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the nuclear envelope. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAFPVDMLEN | CSHEELENSA | EDYMSDLRCG | DPENPECFSL | LNITIPISLS | NVGFVPLYGG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DQTQKILALF | APEDSLTAVA | LYLADQWWAI | DDIVKTSVPS | REGLKQVSTL | GERVVLYVLN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RIIYRKQEME | RNEIPFLCHS | STDYAKILWK | KGEAIGFYSV | KPTGSICASF | LTQSYQLPVL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DTMFLRKKYR | GKDFGLHMLE | DFVDSFTEDA | LGLRYPLSSL | MYTACKQYFE | KYPGDHELLW |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EVEGVGHWYQ | RIPVTRALQR | EALKILALSQ | NEPKRPMSGE | YGPASVPEYE | ARTEDNQSSE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MQLTIDSLKD | AFASTSEGHD | KTSVSTHTRS | GNLKRPKIGK | RFQDSEFSSS | QGEDEKTSQT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SLTASINKLE | STARPSESSE | EFLEEEPEQR | GIEFEDESSD | RDARPALETQ | PQQEKQDGEK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ESELEPMNGE | IMDDSLKTSL | ITEEEDSTSE | VLDEELKLQP | FNSSEDSTNL | VPLVVESSKP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PEVDAPDKTP | RIPDSEMLMD | EGTSDEKGHM | EEKLSLLPRK | KAHLGSSDNV | ATMSNEERSD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GGFPNSVIAE | FSEEPVSENL | SPNTTSSLED | QGEEGVSEPQ | ETSTALPQSS | LIEVELEDVP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| FSQNAGQKNQ | SEEQSEASSE | QLDQFTQSAE | KAVDSSSEEI | EVEVPVVDRR | NLRRKAKGHK |
| GPAKKKAKLT |