Q9Y6W5
PR
Gene name |
WASF2 |
Protein name |
Actin-binding protein WASF2 |
Names |
Protein WAVE-2, Verprolin homology domain-containing protein 2, Wiskott-Aldrich syndrome protein family member 2, WASP family protein member 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10163 |
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
2 structures for Q9Y6W5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2A40 | X-ray | 180 A | C/F | 433-464 | PDB |
| AF-Q9Y6W5-F1 | Predicted | AlphaFoldDB |
346 variants for Q9Y6W5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA715254 rs765406825 |
2 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs754037359 CA715252 |
4 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1180562220 CA339220053 |
5 | T>R | No |
ClinGen TOPMed |
|
|
rs761056790 CA339219997 |
7 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs761056790 CA715250 |
7 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA715249 rs775683220 |
8 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs151177492 CA715246 |
9 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs151177492 CA715247 |
9 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339219797 rs1291659513 |
14 | C>Y | No |
ClinGen TOPMed |
|
|
rs770359812 CA715245 |
15 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1374759153 CA339219773 |
15 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs762525181 CA715244 |
16 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA715243 rs772880496 |
17 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA715241 rs144140646 |
21 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339219639 rs1159173765 |
24 | E>K | No |
ClinGen gnomAD |
|
|
rs1422485839 CA339219607 |
27 | C>Y | No |
ClinGen TOPMed |
|
|
CA715240 rs779097597 |
28 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs768778583 CA715239 |
29 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs779144628 CA715237 |
38 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA715234 rs778100000 |
42 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA339219463 rs1352075528 |
42 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 43 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA715211 rs201017451 |
45 | K>R | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1211419813 CA339217944 |
46 | Y>F | No |
ClinGen gnomAD |
|
|
CA339217927 rs1204136936 |
47 | A>V | No |
ClinGen TOPMed |
|
|
rs766957967 CA715209 |
49 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA19868480 rs893206960 |
53 | E>A | No |
ClinGen Ensembl |
|
|
CA715208 rs763354049 |
56 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226477768 CA339217774 |
57 | Q>K | No |
ClinGen TOPMed |
|
|
CA339217742 rs1279628809 |
59 | N>D | No |
ClinGen TOPMed |
|
|
CA715206 rs764582301 |
59 | N>S | No |
ClinGen ExAC |
|
| TCGA novel | 60 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1359599089 CA339217709 |
61 | F>V | No |
ClinGen gnomAD |
|
|
CA339217668 rs1285946503 |
63 | S>A | No |
ClinGen gnomAD |
|
|
CA339217665 rs1411340987 |
63 | S>F | No |
ClinGen TOPMed |
|
|
rs139424562 CA715205 |
64 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs772108368 CA715200 |
70 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA715201 rs775407600 |
70 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1416423923 CA339217515 |
72 | V>I | No |
ClinGen gnomAD |
|
|
rs146234725 CA19868417 |
73 | D>E | No |
ClinGen ESP TOPMed |
|
|
rs748393155 CA715196 |
73 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748393155 CA715197 |
73 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA715195 rs781351426 |
74 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs755170505 CA715194 |
74 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1190836862 CA339217470 |
75 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs747431865 CA715193 |
81 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs750836155 CA715190 |
85 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA715191 rs758947353 |
85 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA715189 rs764823334 |
86 | E>V | No |
ClinGen ExAC |
|
|
rs756784011 CA715188 |
87 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA19868351 rs866645579 |
89 | V>M | No |
ClinGen TOPMed |
|
|
rs1270079169 CA339217108 |
93 | G>R | No |
ClinGen TOPMed |
|
|
rs763695755 CA715168 |
96 | T>S | No |
ClinGen ExAC |
|
|
CA916137479 rs1571123006 |
97 | R>LG* | No |
ClinGen Ensembl |
|
|
rs201097620 CA715167 |
97 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1275274510 CA339217068 |
99 | A>P | No |
ClinGen TOPMed |
|
|
rs1364088252 CA339216975 |
104 | T>I | No |
ClinGen gnomAD |
|
|
rs547046909 CA715164 |
105 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA715163 rs751338973 |
106 | Q>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 111 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs530130454 CA715161 |
114 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776695441 CA715160 |
114 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1479543547 CA339216767 |
115 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1479543547 CA339216765 |
115 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs768662707 CA715159 |
115 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 119 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201619033 CA19867817 |
120 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA339216642 rs150650907 |
122 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 122 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA715157 rs150650907 |
122 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1213095846 CA339216595 |
124 | Y>C | No |
ClinGen gnomAD |
|
|
CA339216542 rs1301625187 |
127 | C>R | No |
ClinGen gnomAD |
|
|
CA339216501 rs1218283258 |
129 | T>A | No |
ClinGen gnomAD |
|
|
rs1456411312 CA339216495 |
129 | T>I | No |
ClinGen TOPMed |
|
|
CA339216492 rs1557598015 |
130 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA715155 rs746263835 |
131 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 131 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 131 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339216470 rs1360490113 |
132 | P>A | No |
ClinGen gnomAD |
|
|
CA715153 rs531006166 |
132 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA339216462 rs531006166 |
132 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA339216474 rs1360490113 |
132 | P>T | No |
ClinGen gnomAD |
|
|
rs776765974 CA19867781 |
135 | N>H | No |
ClinGen Ensembl |
|
| TCGA novel | 139 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA19867051 rs1015482477 |
142 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs770303663 CA715132 |
142 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770303663 CA715133 |
142 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770303663 CA339216085 |
142 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19867049 rs200140425 |
145 | E>G | No |
ClinGen 1000Genomes |
|
|
rs747661986 CA715131 |
147 | L>F | Variant assessed as Somatic; 0.0003234 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 148 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1322897027 CA339215956 |
148 | K>N | No |
ClinGen gnomAD |
|
|
rs200627354 CA715129 |
148 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1203319453 CA339215917 |
150 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA715128 rs146728512 |
153 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs779844899 CA715127 |
154 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA339215844 rs1257495833 |
155 | Y>H | No |
ClinGen TOPMed |
|
|
CA19867030 rs879873555 |
158 | D>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 159 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs569700656 CA715125 |
161 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765203248 CA715124 |
163 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339215647 rs1361967127 |
164 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 164 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA715123 rs757201102 |
166 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1442311627 CA339215590 |
167 | D>A | No |
ClinGen gnomAD |
|
| TCGA novel | 169 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1309134683 CA339215551 |
169 | K>T | No |
ClinGen TOPMed |
|
|
rs1245882051 CA339215452 |
175 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA715101 rs751661422 |
180 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763255598 CA715099 |
185 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA339215165 rs1300940088 |
186 | P>L | No |
ClinGen TOPMed |
|
|
CA715098 rs773714982 |
187 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA19866715 rs1046738273 |
187 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 188 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765580013 CA715097 |
188 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs762246990 CA715096 |
189 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339215117 rs1318878764 |
190 | N>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 192 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 193 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339215004 rs1172168942 |
199 | R>C | No |
ClinGen TOPMed |
|
|
rs750986025 CA19866705 |
201 | E>G | No |
ClinGen Ensembl |
|
|
rs1463705724 CA339214962 |
202 | E>K | No |
ClinGen TOPMed |
|
|
rs1463705724 CA339214960 |
202 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 204 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1170452632 CA339214857 |
208 | M>L | No |
ClinGen TOPMed |
|
|
rs746568225 CA715093 |
208 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA339214776 rs1382147943 |
213 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA19866696 rs949716026 |
214 | E>A | No |
ClinGen Ensembl |
|
|
rs1173760822 CA339214745 |
215 | S>T | No |
ClinGen gnomAD |
|
|
CA715092 rs774964191 |
216 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1363315654 CA339214710 |
217 | E>G | No |
ClinGen gnomAD |
|
|
CA339214696 rs1428115005 |
218 | K>E | No |
ClinGen gnomAD |
|
|
CA339214673 rs1475701623 |
219 | L>P | No |
ClinGen TOPMed |
|
|
rs1571120721 CA339214631 |
222 | S>F | No |
ClinGen Ensembl |
|
|
rs1478993936 CA339214627 |
223 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 226 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA715079 rs765550053 |
226 | P>S | No |
ClinGen ExAC |
|
|
rs142575533 CA19866219 |
227 | T>S | No |
ClinGen ESP |
|
|
CA339214301 rs1571119397 |
229 | V>A | No |
ClinGen Ensembl |
|
|
CA339214308 rs1239696045 |
229 | V>L | No |
ClinGen gnomAD |
|
|
CA715075 rs761162622 |
231 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA715074 rs774988872 |
233 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs759210822 CA715072 |
235 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs771516651 CA715073 |
235 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1273474091 CA339214195 |
236 | G>C | No |
ClinGen gnomAD |
|
|
rs774017516 CA715071 |
237 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs1337412801 CA339214130 |
239 | E>D | No |
ClinGen gnomAD |
|
|
CA339214097 rs1246146048 |
241 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA339214067 rs1381393805 |
243 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA339214064 rs1381393805 |
243 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA715069 rs749158379 |
244 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339214022 rs1354699666 |
245 | S>N | No |
ClinGen gnomAD |
|
|
CA715068 rs777418355 |
245 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA339214017 rs1328654942 |
245 | S>R | No |
ClinGen gnomAD |
|
|
CA715067 rs769920467 |
246 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA715066 RCV000905627 rs149705388 |
247 | P>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA715064 rs146282802 |
248 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339213937 rs1346778261 |
250 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 251 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 253 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs949272448 CA19866183 |
253 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1490010761 CA339213860 |
255 | A>V | No |
ClinGen TOPMed |
|
|
rs117489792 CA19866179 |
256 | S>A | No |
ClinGen 1000Genomes |
|
|
rs1203618781 CA339213852 |
256 | S>Y | No |
ClinGen gnomAD |
|
|
CA715060 rs562910438 |
257 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 259 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA715058 rs373073860 |
260 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 260 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA19866170 rs373073860 |
260 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA19866165 rs267598535 |
263 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs759090125 CA715055 |
264 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA339213736 rs1440551209 |
265 | D>G | No |
ClinGen gnomAD |
|
|
CA19866159 rs769942074 |
265 | D>N | No |
ClinGen Ensembl |
|
|
rs369607141 CA19866157 |
266 | N>D | No |
ClinGen ESP |
|
|
rs1345514943 CA339213685 |
269 | P>R | No |
ClinGen TOPMed |
|
|
CA19866153 rs927520199 |
269 | P>S | No |
ClinGen gnomAD |
|
|
rs773713166 CA715054 |
270 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19866146 rs978061287 |
271 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1298717745 CA339213660 |
272 | A>P | No |
ClinGen TOPMed |
|
| TCGA novel | 273 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1160576600 CA339213635 |
274 | F>V | No |
ClinGen gnomAD |
|
|
rs765740950 CA715033 |
276 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs765740950 CA339212691 |
276 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA339212666 rs1157341281 |
277 | P>R | No |
ClinGen TOPMed |
|
|
CA715031 rs200239381 |
278 | V>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762687623 CA715032 |
278 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA715029 rs41291110 |
280 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA715030 rs764951378 |
280 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 281 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1477078174 CA339212577 |
283 | G>R | No |
ClinGen TOPMed |
|
|
CA339212543 rs1212986829 |
285 | G>V | No |
ClinGen gnomAD |
|
|
CA715028 rs143992200 |
287 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 287 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339212526 rs1263354312 |
288 | G>A | No |
ClinGen gnomAD |
|
|
CA715027 rs768776610 |
290 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA715026 rs746852578 |
292 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA339212503 rs746852578 |
292 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA339212488 rs770869341 |
294 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA715024 rs770869341 |
294 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs749557530 CA715023 |
295 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 297 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 297 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748570992 CA715020 |
301 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA715019 rs368861296 |
305 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755514820 CA715018 |
306 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426963536 CA339212410 |
307 | G>D | No |
ClinGen gnomAD |
|
|
CA339212403 rs1324208003 |
308 | S>C | No |
ClinGen TOPMed |
|
|
CA339212401 rs1217044377 |
309 | P>A | No |
ClinGen gnomAD |
|
|
CA339212400 rs1217044377 |
309 | P>S | No |
ClinGen gnomAD |
|
|
rs1172205680 CA339212393 |
310 | P>S | No |
ClinGen gnomAD |
|
|
rs1172205680 CA339212395 |
310 | P>T | No |
ClinGen gnomAD |
|
|
rs1264915286 CA339212389 |
311 | G>S | No |
ClinGen TOPMed |
|
|
rs751954038 CA715017 |
313 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA715016 rs765943231 |
314 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1055869870 CA19865413 |
314 | P>T | No |
ClinGen TOPMed |
|
|
CA339212361 rs1462259376 |
315 | G>V | No |
ClinGen gnomAD |
|
|
CA339212349 rs1446997040 |
317 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs757885369 CA715015 |
318 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs200402519 CA715014 |
319 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA715012 rs761548701 |
320 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776568235 CA715011 |
321 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA715010 rs763735191 |
322 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs775253540 CA715008 |
323 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA715009 rs760687040 |
323 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 324 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339212316 rs1407554707 |
324 | P>S | No |
ClinGen TOPMed |
|
|
CA715007 rs772018588 |
325 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs772018588 CA339212310 |
325 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs762995655 CA715006 |
326 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339212294 rs1168531527 |
328 | P>A | No |
ClinGen TOPMed |
|
|
CA339212288 rs1372493047 |
329 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA715005 rs773268112 |
330 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1168226853 CA339212280 |
330 | I>V | No |
ClinGen gnomAD |
|
|
CA339212263 rs1571117538 |
332 | I>T | No |
ClinGen Ensembl |
|
|
rs1385327165 CA339212261 |
333 | P>A | No |
ClinGen gnomAD |
|
|
CA715004 rs770069218 |
334 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1252186312 CA339212247 |
335 | P>L | No |
ClinGen gnomAD |
|
|
CA19865357 rs563591402 |
337 | P>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1461603635 CA339212228 |
338 | P>L | No |
ClinGen TOPMed |
|
|
CA715001 rs768861728 |
339 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339212221 rs1441727029 |
340 | G>R | No |
ClinGen TOPMed |
|
|
rs747365394 CA339212205 |
342 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs747365394 CA715000 |
342 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA714999 rs780474007 |
345 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA714998 rs148128361 |
346 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1395509219 CA339212178 |
347 | P>L | No |
ClinGen gnomAD |
|
|
CA714996 rs371533898 |
347 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756980338 CA714995 |
349 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA19865332 rs866105659 |
351 | S>P | No |
ClinGen Ensembl |
|
|
CA339212126 rs1270620929 |
356 | P>S | No |
ClinGen gnomAD |
|
|
CA339212113 rs1571117426 |
358 | H>P | No |
ClinGen Ensembl |
|
|
rs1359025273 CA339212106 |
359 | P>S | No |
ClinGen TOPMed |
|
|
CA339212078 rs1162416545 |
363 | A>S | No |
ClinGen gnomAD |
|
|
rs1182090943 CA339212064 |
365 | P>L | No |
ClinGen gnomAD |
|
|
rs752518755 CA714991 |
365 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA714990 rs767416254 |
366 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418094076 CA339212061 |
366 | P>S | No |
ClinGen gnomAD |
|
|
rs1388624993 CA339212057 |
367 | P>S | No |
ClinGen TOPMed |
|
|
rs1291662600 CA339212043 |
369 | P>L | No |
ClinGen gnomAD |
|
|
CA714988 rs773284725 |
373 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs769809727 CA714987 |
373 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1238617997 CA339212006 |
375 | Y>C | No |
ClinGen gnomAD |
|
|
CA714986 rs142038871 |
376 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1363006072 CA339211990 |
378 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA339211981 rs1415727736 |
379 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 379 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA714985 rs573142934 |
381 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA339211959 rs1472432760 |
383 | L>F | No |
ClinGen TOPMed |
|
|
rs143433375 CA714984 |
383 | L>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339211932 rs1453024626 |
387 | T>I | No |
ClinGen Ensembl |
|
|
rs367986457 CA714983 |
389 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA714981 rs187961403 |
391 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339211914 rs187961403 |
391 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746315475 CA714980 |
393 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1571117306 CA339211897 |
394 | P>A | No |
ClinGen Ensembl |
|
| TCGA novel | 395 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 395 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339211892 rs1179095238 |
395 | P>T | No |
ClinGen gnomAD |
|
|
rs1480961588 CA339211875 |
397 | P>L | No |
ClinGen gnomAD |
|
|
CA339211863 rs1557594585 |
399 | P>L | No |
ClinGen Ensembl |
|
|
rs150974534 CA714971 |
400 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1449179562 CA339211860 |
400 | P>S | No |
ClinGen gnomAD |
|
|
rs267598534 CA19865219 |
406 | P>A | No |
ClinGen gnomAD |
|
|
rs777344339 CA714965 |
406 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs267598534 CA339211827 |
406 | P>S | No |
ClinGen gnomAD |
|
|
CA339211822 rs1411793922 |
407 | F>L | No |
ClinGen TOPMed |
|
|
rs376895488 CA714964 |
412 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA339211771 rs1368767931 |
414 | P>L | No |
ClinGen TOPMed |
|
|
rs1434245187 CA339211770 |
415 | A>T | No |
ClinGen gnomAD |
|
|
rs1328091636 CA339211763 |
416 | I>V | No |
ClinGen gnomAD |
|
|
CA339211752 rs1318458180 |
417 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA714963 rs148528717 |
419 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 420 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA714961 rs759484609 |
420 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA714960 rs751450997 |
423 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201662957 CA19865204 |
424 | T>N | No |
ClinGen Ensembl |
|
|
CA714959 rs142990057 |
426 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA19865195 rs1055896257 |
427 | K>E | No |
ClinGen TOPMed |
|
|
CA339211636 rs1476691450 |
430 | L>F | No |
ClinGen gnomAD |
|
|
rs776758419 CA714957 |
431 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1374108908 CA339211629 |
431 | P>S | No |
ClinGen gnomAD |
|
|
rs764288164 CA714956 |
432 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1471540599 CA339211600 |
433 | V>M | No |
ClinGen TOPMed |
|
|
CA339211559 rs1217238006 |
435 | D>G | No |
ClinGen gnomAD |
|
|
rs1262315343 CA339211564 |
435 | D>N | No |
ClinGen gnomAD |
|
|
CA339211535 rs1341447308 |
437 | R>C | No |
ClinGen gnomAD |
|
|
CA714952 rs746405479 |
437 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775041444 CA714951 |
439 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368302587 CA714948 |
445 | R>C | No |
ClinGen ESP ExAC |
|
|
rs946347749 CA19865133 |
445 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs779757145 CA714923 |
448 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 448 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA714922 rs758342249 |
450 | L>R | No |
ClinGen ExAC |
|
|
rs374057413 CA714921 |
451 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA339211169 rs1316369650 |
451 | R>H | No |
ClinGen TOPMed |
|
|
rs764109599 CA714920 |
452 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA339211153 rs1181138512 |
453 | V>I | No |
ClinGen gnomAD |
|
|
rs1293827171 CA339211134 |
454 | E>Q | No |
ClinGen gnomAD |
|
|
rs752699982 CA714918 |
455 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs767912379 CA339211084 |
457 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA714916 rs200665850 |
457 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767912379 CA714917 |
457 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19864509 rs199795195 |
460 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 460 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA714914 rs199795195 |
460 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199795195 CA339211036 |
460 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200790644 CA19864505 |
461 | K>R | No |
ClinGen 1000Genomes |
|
|
CA339211003 rs555432632 |
462 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA714913 rs555432632 |
462 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA19864503 rs972689303 |
462 | R>W | No |
ClinGen TOPMed |
|
|
CA339210999 rs773730204 |
463 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA714912 rs773730204 |
463 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA714910 rs761441379 |
465 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs761441379 CA339210961 |
465 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1348221497 CA339210955 |
466 | G>D | No |
ClinGen gnomAD |
|
|
CA339210818 rs1407491137 |
475 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs961032437 CA19864474 |
476 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1481394430 CA339210805 |
476 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs746606696 CA714907 |
479 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs144055836 CA19864471 |
481 | Y>C | No |
ClinGen ESP |
|
|
CA339210636 rs1481919478 |
487 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs745616389 CA714904 |
488 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs757131716 CA714902 |
495 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA714900 rs199618327 |
498 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339210456 rs1246612626 |
498 | D>N | No |
ClinGen gnomAD |
|
|
CA19864447 rs199618327 |
498 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q9Y6W5
1 regional properties for Q9Y6W5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | WH2 domain | 434 - 459 | IPR003124 |
Functions
11 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| cell-cell junction | A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| early endosome | A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| lamellipodium | A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| ruffle | Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork. |
| SCAR complex | A pentameric complex that includes orthologues of human PIR121, Nap1, Abi, SCAR, and HSPC300 and regulates actin polymerization and/or depolymerization through small GTPase mediated signal transduction. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| Arp2/3 complex binding | Binding to an Arp2/3 complex, a protein complex that contains two actin-related proteins, Arp2 and Arp3, and five novel proteins (ARPC1-5). |
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| protein kinase A binding | Binding to a protein kinase A. |
| protein kinase A regulatory subunit binding | Binding to one or both of the regulatory subunits of protein kinase A. |
| SH3 domain binding | Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins. |
14 GO annotations of biological process
| Name | Definition |
|---|---|
| actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
| actin filament-based movement | Movement of organelles or other particles along actin filaments, or sliding of actin filaments past each other, mediated by motor proteins. |
| adenylate cyclase-modulating G protein-coupled receptor signaling pathway | A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation or inhibition of adenylyl cyclase activity and a subsequent change in the intracellular concentration of cyclic AMP (cAMP). |
| ameboidal-type cell migration | Cell migration that is accomplished by extension and retraction of a pseudopodium. |
| angiogenesis | Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. |
| endocytosis | A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. |
| lamellipodium assembly | Formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell. |
| lamellipodium morphogenesis | A process that is carried out at the cellular level and in which the structure of a lamellipodium is organized. |
| megakaryocyte development | The process whose specific outcome is the progression of a megakaryocyte cell over time, from its formation to the mature structure. Megakaryocyte development does not include the steps involved in committing a cell to a megakaryocyte fate. A megakaryocyte is a giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow. |
| negative regulation of stress fiber assembly | Any process that stops, prevents, or reduces the frequency, rate or extent of the assembly a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts. |
| positive regulation of Arp2/3 complex-mediated actin nucleation | Any process that activates or increases the frequency, rate or extent of Arp2/3 complex-mediated actin nucleation. |
| positive regulation of lamellipodium assembly | Any process that increases the rate, frequency or extent of the formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell. |
| postsynaptic actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins in the postsynaptic actin cytoskeleton. |
| Rac protein signal transduction | The series of molecular signals within the cell that are mediated by a member of the Rac family of proteins switching to a GTP-bound active state. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPLVTRNIEP | RHLCRQTLPS | VRSELECVTN | ITLANVIRQL | GSLSKYAEDI | FGELFTQANT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FASRVSSLAE | RVDRLQVKVT | QLDPKEEEVS | LQGINTRKAF | RSSTIQDQKL | FDRNSLPVPV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LETYNTCDTP | PPLNNLTPYR | DDGKEALKFY | TDPSYFFDLW | KEKMLQDTKD | IMKEKRKHRK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EKKDNPNRGN | VNPRKIKTRK | EEWEKMKMGQ | EFVESKEKLG | TSGYPPTLVY | QNGSIGCVEN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VDASSYPPPP | QSDSASSPSP | SFSEDNLPPP | PAEFSYPVDN | QRGSGLAGPK | RSSVVSPSHP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PPAPPLGSPP | GPKPGFAPPP | APPPPPPPMI | GIPPPPPPVG | FGSPGTPPPP | SPPSFPPHPD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FAAPPPPPPP | PAADYPTLPP | PPLSQPTGGA | PPPPPPPPPP | GPPPPPFTGA | DGQPAIPPPL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SDTTKPKSSL | PAVSDARSDL | LSAIRQGFQL | RRVEEQREQE | KRDVVGNDVA | TILSRRIAVE |
| 490 | |||||
| YSDSEDDSSE | FDEDDWSD |