Q9Y6E2
Gene name |
BZW2 (5MP1) |
Protein name |
eIF5-mimic protein 1 |
Names |
Basic leucine zipper and W2 domain-containing protein 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:28969 |
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 Q9Y6E2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9Y6E2-F1 | Predicted | AlphaFoldDB |
243 variants for Q9Y6E2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs777976475 CA4170437 |
2 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4170439 rs770948789 |
4 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1046378673 CA154063084 |
13 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4170443 rs146833365 |
13 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA366883671 rs1394568442 |
14 | F>L | No |
ClinGen gnomAD |
|
|
CA366883673 rs1315002426 |
14 | F>Y | No |
ClinGen gnomAD |
|
|
CA366883691 rs1340044974 |
16 | T>I | No |
ClinGen TOPMed |
|
|
CA366883694 rs1274145599 |
17 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA366883710 rs1415183083 |
19 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 29 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366883984 rs1233556399 |
32 | D>N | No |
ClinGen gnomAD |
|
|
CA4170479 rs767046038 |
33 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1274718208 CA366884002 |
35 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1274718208 CA366884003 |
35 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1370584411 CA366884013 |
36 | Q>H | No |
ClinGen TOPMed |
|
|
rs372220513 CA154068444 |
36 | Q>R | No |
ClinGen ESP TOPMed |
|
|
rs772636286 CA4170480 |
37 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1298473577 CA366884047 |
41 | A>G | No |
ClinGen gnomAD |
|
|
CA366884046 rs1298473577 |
41 | A>V | No |
ClinGen gnomAD |
|
|
CA366884061 rs1438590936 |
43 | D>E | No |
ClinGen gnomAD |
|
|
CA154068458 VAR_033642 rs35233079 |
44 | D>A | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA4170483 rs753857266 |
44 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4170484 rs754753791 |
45 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA154068467 rs1033606410 |
48 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4170486 rs751795372 |
48 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs199513488 CA154068470 |
49 | A>T | No |
ClinGen Ensembl |
|
|
rs781303797 CA4170488 |
52 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4170487 rs539320736 |
52 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1481585007 CA366884120 |
53 | D>V | No |
ClinGen gnomAD |
|
|
CA366884128 rs1461446942 |
54 | S>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 56 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1467555813 CA366884155 |
59 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 62 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1253768868 CA366884179 |
62 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA366884215 rs1449809604 |
67 | T>I | No |
ClinGen TOPMed |
|
|
rs139763605 CA4170492 |
67 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1196326687 CA366884230 |
70 | D>N | No |
ClinGen TOPMed |
|
|
rs767517929 CA154068494 |
71 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs771670267 CA4170496 |
72 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA4170497 rs772938890 |
72 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4170498 rs760062551 |
74 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1429430088 CA366884265 |
76 | S>G | No |
ClinGen gnomAD |
|
|
rs1286562852 CA366884281 |
78 | L>I | No |
ClinGen gnomAD |
|
|
CA4170517 rs371407289 |
83 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs371407289 CA366884716 |
83 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1209430562 CA366884724 |
84 | R>C | No |
ClinGen gnomAD |
|
|
rs975997772 CA366884726 |
84 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs975997772 CA154071368 |
84 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4170519 rs372301881 |
85 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366884761 rs1189840628 |
87 | D>G | No |
ClinGen gnomAD |
|
|
rs1469606802 CA366884787 |
89 | D>E | No |
ClinGen gnomAD |
|
|
rs769904474 CA4170520 |
89 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs374343456 CA4170521 |
91 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4170524 rs750594120 |
92 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1172407347 CA366884835 |
93 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA366884834 rs1172407347 |
93 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA366884829 rs1294741504 |
93 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA366884860 rs1436149070 |
95 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA366884859 rs1436149070 |
95 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4170525 rs760950174 |
96 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366884918 rs1440738479 |
100 | S>L | No |
ClinGen gnomAD |
|
|
CA366884929 rs1337975897 |
101 | A>G | No |
ClinGen gnomAD |
|
|
CA4170526 rs766412785 |
102 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1157402260 CA366884952 |
103 | E>G | No |
ClinGen TOPMed |
|
|
rs753964792 CA4170527 |
104 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA154071387 rs866863564 |
105 | H>Y | No |
ClinGen Ensembl |
|
|
rs755070742 CA4170528 |
107 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs765620126 CA4170529 |
107 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA366885000 rs765620126 |
107 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs144761230 CA4170531 |
108 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4170532 rs778259070 |
109 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4170533 rs565994111 |
110 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1202098440 COSM1622653 CA366885037 |
111 | Y>C | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA366885038 rs1202098440 |
111 | Y>F | No |
ClinGen gnomAD |
|
|
CA366885050 rs1583729897 |
112 | A>G | No |
ClinGen Ensembl |
|
|
rs1583729891 CA366885046 |
112 | A>S | No |
ClinGen Ensembl |
|
|
CA4170534 rs536211544 |
113 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1461429389 CA366885503 |
114 | V>F | No |
ClinGen gnomAD |
|
|
CA4170557 rs759011029 |
116 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs924061103 CA366885607 |
122 | Y>* | No |
ClinGen gnomAD |
|
|
rs1324937906 CA366885603 |
122 | Y>C | No |
ClinGen gnomAD |
|
|
CA154072067 rs1014153412 |
124 | Y>C | No |
ClinGen TOPMed |
|
|
CA366885638 rs1562489369 |
126 | E>Q | No |
ClinGen Ensembl |
|
|
CA154072077 rs369984633 |
127 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200567141 CA4170559 COSM485154 |
127 | K>R | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1271212523 CA366885656 |
128 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 129 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4170561 rs780955589 |
130 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1260399912 CA366885701 |
134 | K>R | No |
ClinGen gnomAD |
|
|
CA366885857 rs1433062799 |
136 | L>F | No |
ClinGen gnomAD |
|
|
rs1377038665 CA366885863 |
137 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 140 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366885899 rs1583736584 |
141 | K>* | No |
ClinGen Ensembl |
|
|
CA366885915 rs1306205736 |
142 | A>G | No |
ClinGen gnomAD |
|
|
CA366885939 rs1583736593 |
144 | S>F | No |
ClinGen Ensembl |
|
|
rs748090719 CA4170606 |
145 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346753253 CA366885995 |
149 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA366886029 rs1292741642 |
152 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA366886059 rs1255204746 |
155 | S>A | No |
ClinGen TOPMed |
|
|
rs771841398 CA4170607 |
155 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 156 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1583736669 CA366886111 |
159 | L>R | No |
ClinGen Ensembl |
|
|
CA154073416 rs1056079577 |
161 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4170610 rs148948416 |
162 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4170611 rs374366357 |
163 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA154073422 rs980360074 |
163 | T>P | No |
ClinGen Ensembl |
|
|
CA366886176 rs762472281 |
166 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4170615 rs762472281 |
166 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA366886182 rs1583736737 |
167 | T>P | No |
ClinGen Ensembl |
|
|
rs750863375 CA4170617 |
168 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750863375 CA366886199 |
168 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1297341046 CA366886193 |
168 | I>V | No |
ClinGen gnomAD |
|
|
CA366886220 rs1331496651 |
170 | T>A | No |
ClinGen gnomAD |
|
|
CA4170618 rs774065384 |
172 | L>* | No |
ClinGen ExAC |
|
|
rs1441207164 CA366886244 |
172 | L>V | No |
ClinGen TOPMed |
|
|
CA366886282 rs1305195566 |
175 | D>N | No |
ClinGen gnomAD |
|
|
rs369538600 CA366886300 |
176 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369538600 CA4170621 |
176 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199770355 CA4170622 |
178 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1481937235 CA366886336 |
179 | K>R | No |
ClinGen gnomAD |
|
|
CA4170656 rs771321407 |
182 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA4170657 rs572468645 |
183 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366886718 rs572468645 |
183 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs145957585 CA4170659 |
184 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4170660 rs775156427 |
184 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA154074933 rs1032523070 |
193 | A>T | No |
ClinGen Ensembl |
|
|
CA836140745 rs1270612460 |
194 | W>* | No |
ClinGen Ensembl |
|
|
CA366886821 rs1373165517 |
195 | M>I | No |
ClinGen gnomAD |
|
|
rs1222172004 CA366886824 |
196 | A>T | No |
ClinGen gnomAD |
|
|
CA366886888 rs1225135493 |
201 | N>Y | No |
ClinGen TOPMed |
|
|
rs767317583 CA4170665 |
203 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA154074940 rs988421846 |
203 | V>F | No |
ClinGen Ensembl |
|
|
rs1360647335 CA366886934 |
204 | T>I | No |
ClinGen TOPMed |
|
|
CA366886931 rs1360647335 |
204 | T>N | No |
ClinGen TOPMed |
|
|
CA4170666 rs375628464 |
205 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1175011928 CA366887007 |
210 | A>T | No |
ClinGen gnomAD |
|
|
rs748392463 CA4170669 |
211 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs528975449 CA154074945 |
212 | L>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA366887074 rs1172621167 |
214 | K>* | No |
ClinGen gnomAD |
|
|
CA4170672 rs760256408 |
214 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs141321905 CA4170673 |
217 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4170690 rs751535805 |
225 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA366888190 rs1420043520 |
226 | S>N | No |
ClinGen TOPMed |
|
|
rs953144274 CA154076334 |
226 | S>R | No |
ClinGen Ensembl |
|
|
CA4170691 rs757362212 |
227 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA154076339 rs985569614 |
228 | D>A | No |
ClinGen Ensembl |
|
|
rs911413334 CA154076343 |
233 | Y>* | No |
ClinGen Ensembl |
|
| TCGA novel | 235 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1392951943 CA366888257 |
235 | T>S | No |
ClinGen gnomAD |
|
|
CA366888266 rs746394268 |
237 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA4170693 rs746394268 |
237 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4170694 rs558675877 |
241 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA366888315 rs765564580 |
244 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4170696 rs141647020 |
244 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774060534 CA4170698 |
246 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA366888332 rs1357855982 |
247 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 249 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771637961 CA4170701 |
258 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760736472 CA4170702 |
263 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366888454 rs1291250809 |
265 | R>C | No |
ClinGen TOPMed |
|
|
CA366888455 rs1356337797 |
265 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs759389326 CA4170705 |
268 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA4170704 rs751222719 |
268 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370634430 CA366888477 |
269 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA154076380 rs964599232 |
270 | C>R | No |
ClinGen TOPMed |
|
|
rs764155066 CA4170706 |
271 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757233860 CA4170708 |
272 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1421720292 CA366888513 |
274 | E>A | No |
ClinGen gnomAD |
|
|
CA4170724 rs759210353 |
276 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs776714807 CA4170723 |
276 | V>M | No |
ClinGen ExAC |
|
|
CA4170725 rs765101857 |
278 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366888705 rs765101857 |
278 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4170727 rs762131738 |
279 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 285 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366888775 rs1396517479 |
287 | D>E | No |
ClinGen gnomAD |
|
|
rs750555836 CA4170729 |
288 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366888782 rs1486461697 |
289 | P>T | No |
ClinGen gnomAD |
|
|
rs1241596634 CA366888793 |
290 | E>V | No |
ClinGen gnomAD |
|
|
CA4170731 rs766834462 |
292 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 293 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366888843 rs1258102588 |
298 | W>* | No |
ClinGen gnomAD |
|
|
CA4170733 rs755277642 |
300 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755277642 CA366888853 |
300 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779376411 CA4170734 |
301 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758127553 CA4170736 |
304 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4170737 rs777582035 |
305 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1173758539 CA366888946 |
312 | E>V | No |
ClinGen gnomAD |
|
|
rs769442399 CA4170742 |
320 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA366889004 rs1583751682 |
321 | H>P | No |
ClinGen Ensembl |
|
|
rs915427730 CA154077205 |
323 | K>R | No |
ClinGen Ensembl |
|
|
CA366889036 rs1228685667 |
324 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA366889046 rs1215677294 |
325 | Y>* | No |
ClinGen gnomAD |
|
|
CA366889048 rs1461127627 |
326 | A>S | No |
ClinGen TOPMed |
|
|
rs1260736239 CA366889053 |
326 | A>V | No |
ClinGen gnomAD |
|
|
rs375769865 CA154077709 |
331 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA366889094 rs1221573337 |
333 | S>I | No |
ClinGen TOPMed |
|
|
rs753174373 CA4170775 |
334 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA366889100 rs753174373 |
334 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs764599893 COSM1088074 CA4170777 |
335 | Q>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4170779 rs757033515 |
337 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs751223933 CA4170778 |
337 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA366889157 rs1302785740 |
340 | L>V | No |
ClinGen gnomAD |
|
|
rs780551598 CA4170781 |
341 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA4170780 rs780551598 |
341 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 344 | Q>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 345 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755580498 CA4170782 |
345 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs146163758 CA4170783 |
347 | Q>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA366889491 rs1243640147 |
349 | Y>C | No |
ClinGen TOPMed |
|
|
CA366889540 rs1349473469 |
352 | D>E | No |
ClinGen gnomAD |
|
|
CA366889568 rs1236869110 |
355 | H>R | No |
ClinGen gnomAD |
|
|
rs747219700 CA4170787 |
355 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs759622263 CA4170790 |
361 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1156458478 CA366889643 |
365 | V>A | No |
ClinGen gnomAD |
|
|
rs769784877 CA4170791 |
365 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316217728 COSM88508 CA366889646 |
366 | L>V | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs776042480 CA4170792 |
367 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 367 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1453744062 CA366890500 |
372 | V>I | No |
ClinGen gnomAD |
|
|
CA366890519 rs1274101695 |
373 | L>P | No |
ClinGen gnomAD |
|
|
CA4170812 rs769226107 |
375 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs560509631 CA366890569 |
377 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs560509631 CA4170813 |
377 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366890583 rs1196249517 |
379 | L>M | No |
ClinGen gnomAD |
|
|
rs762224963 CA4170814 |
382 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA4170818 rs760313917 |
396 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1325260363 CA366890748 |
397 | Q>P | No |
ClinGen TOPMed |
|
|
CA4170820 COSM1488446 rs753289484 |
398 | M>I | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs765901920 CA4170819 |
398 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192097564 CA366890756 |
398 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 401 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366890826 rs1401114132 |
402 | V>F | No |
ClinGen gnomAD |
|
|
rs1392095546 CA366890843 |
403 | E>D | No |
ClinGen TOPMed |
|
|
rs1431611010 CA366890838 |
403 | E>V | No |
ClinGen TOPMed |
|
|
rs1321839687 CA366890885 |
406 | Q>P | No |
ClinGen gnomAD |
|
| TCGA novel | 412 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366891067 rs1257281634 |
412 | S>P | No |
ClinGen TOPMed |
|
|
rs755081715 COSM170916 CA4170847 |
413 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA366891082 rs148788756 |
414 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4170848 rs148788756 |
414 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1358071160 CA366891098 |
417 | E>K | No |
ClinGen TOPMed |
|
|
rs778349274 CA366891120 |
419 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1219180228 CA366891118 |
419 | N>S | No |
ClinGen gnomAD |
No associated diseases with Q9Y6E2
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| regulation of translational initiation | Any process that modulates the frequency, rate or extent of translational initiation. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNKHQKPVLT | GQRFKTRKRD | EKEKFEPTVF | RDTLVQGLNE | AGDDLEAVAK | FLDSTGSRLD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YRRYADTLFD | ILVAGSMLAP | GGTRIDDGDK | TKMTNHCVFS | ANEDHETIRN | YAQVFNKLIR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RYKYLEKAFE | DEMKKLLLFL | KAFSETEQTK | LAMLSGILLG | NGTLPATILT | SLFTDSLVKE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GIAASFAVKL | FKAWMAEKDA | NSVTSSLRKA | NLDKRLLELF | PVNRQSVDHF | AKYFTDAGLK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ELSDFLRVQQ | SLGTRKELQK | ELQERLSQEC | PIKEVVLYVK | EEMKRNDLPE | TAVIGLLWTC |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IMNAVEWNKK | EELVAEQALK | HLKQYAPLLA | VFSSQGQSEL | ILLQKVQEYC | YDNIHFMKAF |
| 370 | 380 | 390 | 400 | 410 | |
| QKIVVLFYKA | DVLSEEAILK | WYKEAHVAKG | KSVFLDQMKK | FVEWLQNAEE | ESESEGEEN |