Q6ZS11
Gene name |
RINL |
Protein name |
Ras and Rab interactor-like protein |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:126432 |
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 Q6ZS11
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6ZS11-F1 | Predicted | AlphaFoldDB |
511 variants for Q6ZS11
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA308150819 rs955326455 |
2 | A>T | No |
ClinGen Ensembl |
|
|
CA405727880 rs1275298076 |
6 | D>G | No |
TOPMed ClinGen |
|
|
rs1203845914 CA405727823 |
14 | E>D | No |
TOPMed ClinGen |
|
|
CA405727819 rs1320882862 |
15 | G>E | No |
ClinGen gnomAD |
|
|
CA405727821 CA405727822 rs1366892108 |
15 | G>R | No |
TOPMed gnomAD ClinGen |
|
|
CA405727820 rs1366892108 |
15 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA405727814 rs1383123778 |
16 | V>L | No |
gnomAD ClinGen |
|
|
rs1407185308 CA405727784 |
19 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
rs780407478 CA9421453 |
19 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1303137016 CA405727772 |
21 | P>Q | No |
ClinGen gnomAD |
|
|
rs1166944456 CA405727775 |
21 | P>S | No |
TOPMed ClinGen |
|
|
rs1247098052 CA405727767 |
22 | Q>* | No |
gnomAD ClinGen |
|
|
rs1600097177 CA405727759 |
23 | V>G | No |
ClinGen Ensembl |
|
|
rs770249044 CA9421452 |
23 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9421451 rs1001413 |
24 | N>D | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA405727756 rs1001413 |
24 | N>H | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA405727753 rs1199832248 |
24 | N>S | No |
TOPMed gnomAD ClinGen |
|
|
CA405727736 rs1168595414 |
26 | A>V | No |
ClinGen gnomAD |
|
|
rs777246039 CA9421450 |
27 | D>N | No |
ExAC gnomAD ClinGen |
|
|
CA405727720 rs1345545340 |
29 | T>A | No |
gnomAD ClinGen |
|
|
CA405727710 rs1276409264 |
30 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA405727713 rs1200707731 |
30 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1268091070 CA405727669 |
37 | L>P | No |
gnomAD ClinGen |
|
|
CA405727664 rs1220075487 |
38 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA405727658 rs769778468 |
39 | P>S | No |
TOPMed gnomAD ClinGen |
|
|
rs769778468 CA308150790 |
39 | P>T | No |
TOPMed gnomAD ClinGen |
|
|
rs1273037741 CA405727653 |
40 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA308150789 rs551555322 |
42 | R>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA9421449 rs757988457 |
42 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs776068368 CA9421448 |
45 | R>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1297205502 CA405727620 |
45 | R>S | No |
gnomAD ClinGen |
|
|
rs1225717910 CA405727608 |
47 | W>L | No |
ClinGen gnomAD |
|
|
CA308150787 rs1038777124 |
48 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA405727604 rs1038777124 |
48 | G>W | No |
TOPMed gnomAD ClinGen |
|
|
CA405727597 rs1286151369 |
49 | V>L | No |
TOPMed ClinGen |
|
|
CA405727577 rs1283041666 |
51 | H>Q | No |
ClinGen gnomAD |
|
|
CA405727584 rs1346608487 |
51 | H>Y | No |
ClinGen gnomAD |
|
|
rs1445059514 CA405727574 |
52 | V>M | No |
ClinGen TOPMed |
|
|
CA405727557 rs1329590229 |
54 | E>D | No |
gnomAD ClinGen |
|
|
rs1356827626 CA405727564 |
54 | E>Q | No |
gnomAD ClinGen |
|
|
CA405727556 rs1409507504 |
55 | L>M | No |
ClinGen gnomAD |
|
|
rs1174602083 CA405727535 |
58 | Q>* | No |
ClinGen gnomAD |
|
|
CA405727522 rs1192026752 |
59 | D>E | No |
TOPMed ClinGen |
|
|
CA9421446 rs754601875 |
60 | A>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA308150783 rs754601875 |
60 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428269889 CA405727518 |
60 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA308150778 rs934170065 |
64 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs934170065 CA405727495 |
64 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
rs770580434 CA405727497 |
64 | V>L | No |
ClinGen gnomAD |
|
|
rs770580434 CA308150780 |
64 | V>M | No |
ClinGen gnomAD |
|
|
rs759612168 CA308150776 |
66 | L>Q | No |
TOPMed ClinGen |
|
|
rs750434305 CA9421442 |
70 | G>V | No |
ClinGen ExAC |
|
|
CA308150295 rs529735559 |
73 | L>F | No |
1000Genomes ClinGen |
|
|
CA405727420 rs1223661766 |
74 | V>A | No |
ClinGen gnomAD |
|
|
CA405727424 rs1282434713 |
74 | V>I | No |
gnomAD ClinGen |
|
|
CA405727413 rs1349190247 |
75 | T>R | No |
ClinGen gnomAD |
|
|
rs1392439172 CA405727410 |
76 | G>R | No |
TOPMed ClinGen |
|
|
CA405727404 rs1317198732 |
77 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1317198732 CA405727405 |
77 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA308150292 rs999701905 |
77 | R>H | No |
ClinGen gnomAD |
|
|
rs1317198732 CA405727406 |
77 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA405727396 rs1600094442 |
78 | D>A | No |
ClinGen Ensembl |
|
|
CA308150290 rs866128061 |
78 | D>E | No |
ClinGen Ensembl |
|
|
CA405727399 rs1341223724 |
78 | D>Y | No |
ClinGen gnomAD |
|
|
CA9421438 rs768863302 |
79 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405727372 rs1432629227 |
82 | A>T | No |
ClinGen gnomAD |
|
|
CA405727370 rs1345492975 |
82 | A>V | No |
gnomAD ClinGen |
|
|
rs1568388341 CA405727343 |
86 | R>S | No |
Ensembl ClinGen |
|
|
rs1364274866 CA405727337 |
87 | S>L | No |
TOPMed gnomAD ClinGen |
|
|
rs61740709 CA308150277 |
93 | E>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs61740709 CA308150278 |
93 | E>K | No |
1000Genomes TOPMed gnomAD ClinGen |
|
|
rs1447483450 CA405727280 |
96 | T>I | No |
TOPMed gnomAD ClinGen |
|
|
CA405727281 rs1447483450 |
96 | T>N | No |
TOPMed gnomAD ClinGen |
|
|
rs947664784 CA308150276 |
98 | Q>K | No |
ClinGen Ensembl |
|
|
rs1387059864 CA405727237 |
102 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1211711833 CA405727225 |
104 | R>T | No |
ClinGen TOPMed |
|
|
rs767418003 CA9421424 |
109 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1568387388 CA405727173 |
110 | S>F | No |
ClinGen Ensembl |
|
|
rs1289618182 CA405727160 |
112 | N>K | No |
ClinGen gnomAD |
|
|
rs370724276 CA9421422 |
113 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9421421 rs764122431 |
114 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA9421420 rs763143581 |
115 | M>I | No |
ExAC gnomAD ClinGen |
|
|
CA405727144 rs1295202411 |
115 | M>L | No |
gnomAD ClinGen |
|
|
CA405727127 rs1600092383 |
117 | D>A | No |
Ensembl ClinGen |
|
|
rs775751570 CA9421419 |
117 | D>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA9421418 rs765585924 |
120 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs759829124 CA9421417 |
121 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs367884896 CA9421414 |
127 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405727064 rs201019662 |
128 | S>N | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA9421413 rs201019662 |
128 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 129 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773646026 CA9421396 |
130 | D>G | No |
ExAC gnomAD ClinGen |
|
|
CA405727039 rs761218583 |
130 | D>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA9421397 rs761218583 |
130 | D>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs768272386 CA9421395 |
131 | V>D | No |
ClinGen ExAC |
|
| TCGA novel | 132 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762484838 CA9421394 |
132 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1462800189 CA405727019 |
134 | R>G | No |
gnomAD ClinGen |
|
|
CA308149853 rs1034357371 |
135 | T>A | No |
ClinGen Ensembl |
|
|
CA405727008 rs1244027269 |
135 | T>I | No |
ClinGen gnomAD |
|
|
CA9421391 rs745536651 |
136 | L>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA405726992 rs1262275125 |
138 | L>F | No |
gnomAD ClinGen |
|
|
CA405726988 rs765995884 |
139 | P>H | No |
gnomAD ClinGen |
|
|
CA308149849 rs765995884 |
139 | P>L | No |
gnomAD ClinGen |
|
|
CA9421389 rs368954450 |
139 | P>S | No |
1000Genomes TOPMed gnomAD ClinGen |
|
|
rs781020265 CA9421388 |
140 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568387184 CA405726976 |
141 | P>L | No |
Ensembl ClinGen |
|
| TCGA novel | 141 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1304180352 CA405726974 |
142 | T>A | No |
ClinGen gnomAD |
|
|
CA405726968 rs148295876 |
143 | L>V | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1339385770 CA405726964 |
144 | G>R | No |
ClinGen Ensembl |
|
|
rs777621304 CA9421385 |
145 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA9421384 rs369340366 |
146 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs752727795 CA9421383 |
147 | D>V | No |
ExAC gnomAD ClinGen |
|
|
rs1291023179 CA405726930 |
149 | H>Y | No |
gnomAD ClinGen |
|
|
CA405726919 rs1363769201 |
150 | T>I | No |
gnomAD ClinGen |
|
|
CA9421381 rs755164424 |
151 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9421364 rs748127312 |
152 | P>T | No |
ExAC gnomAD ClinGen |
|
|
rs1224560066 CA405726894 |
153 | V>M | No |
ClinGen gnomAD |
|
|
CA9421361 rs367723236 |
155 | I>M | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs962923125 CA308149722 |
156 | G>D | No |
TOPMed gnomAD ClinGen |
|
|
CA9421360 rs373549975 |
157 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9421359 rs371557607 |
157 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756371673 CA9421358 |
158 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs912228498 CA308149713 |
164 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs762376384 CA9421355 |
166 | V>A | No |
ExAC gnomAD ClinGen |
|
|
rs762376384 CA405726807 |
166 | V>G | No |
ExAC gnomAD ClinGen |
|
|
CA308149709 rs376928975 |
166 | V>L | No |
ClinGen ESP |
|
|
rs1327317526 CA405726803 |
167 | L>P | No |
ClinGen TOPMed |
|
|
CA405726795 rs1568386847 |
168 | S>F | No |
Ensembl ClinGen |
|
|
rs1568386839 CA405726793 |
169 | I>V | No |
Ensembl ClinGen |
|
|
CA405726780 rs1245868500 |
171 | N>D | No |
gnomAD ClinGen |
|
|
rs1398905168 CA405726775 |
171 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA405726771 rs1221154134 |
172 | Q>* | No |
gnomAD ClinGen |
|
|
rs374371333 CA308149702 |
172 | Q>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs866790293 CA308149699 |
174 | Y>H | No |
Ensembl ClinGen |
|
|
rs533932628 CA9421354 |
175 | L>Q | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1480705294 CA405726743 |
176 | E>D | No |
ClinGen gnomAD |
|
|
rs764836843 CA9421353 |
176 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1268156242 CA405726741 |
177 | T>A | No |
ClinGen gnomAD |
|
|
rs1196119295 CA405726711 |
181 | W>* | No |
gnomAD ClinGen |
|
|
CA405726706 rs147307947 |
182 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147307947 CA9421352 |
182 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 183 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405726701 rs1600091413 |
183 | R>G | No |
Ensembl ClinGen |
|
|
rs200576310 CA405726694 |
184 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200576310 CA9421351 |
184 | E>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1568386749 CA405726685 |
185 | Q>* | No |
Ensembl ClinGen |
|
|
CA405726681 rs1315705238 |
185 | Q>H | No |
gnomAD ClinGen |
|
|
rs765903998 CA9421350 |
186 | T>A | No |
ExAC gnomAD ClinGen |
|
|
rs375961991 CA308149694 |
187 | P>A | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA9421347 rs551357680 |
187 | P>L | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs375961991 CA9421348 |
187 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA405726669 rs1434954796 |
188 | Q>* | No |
gnomAD ClinGen |
|
|
CA405726670 rs1434954796 |
188 | Q>E | No |
ClinGen gnomAD |
|
|
CA9421346 rs376088775 |
189 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405726649 rs1260457360 |
191 | E>Q | No |
ClinGen TOPMed |
|
|
CA405726642 rs199783744 |
192 | P>A | No |
TOPMed gnomAD ClinGen |
|
|
CA308149676 rs199783744 |
192 | P>S | No |
TOPMed gnomAD ClinGen |
|
|
rs199783744 CA308149679 |
192 | P>T | No |
TOPMed gnomAD ClinGen |
|
|
CA9421344 rs768640400 |
194 | A>T | No |
ExAC gnomAD ClinGen |
|
|
rs1600091316 CA405726626 |
194 | A>V | No |
Ensembl ClinGen |
|
|
rs1000744889 CA308149666 |
196 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs879882566 CA308149663 |
197 | R>K | No |
Ensembl ClinGen |
|
|
rs149631177 CA308149658 |
198 | H>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA9421342 rs138338251 |
198 | H>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs149631177 CA9421343 |
198 | H>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA9421340 rs746131058 |
199 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1232904166 CA405726593 |
200 | P>A | No |
ClinGen gnomAD |
|
|
CA308149598 rs1038510682 |
204 | N>S | No |
TOPMed ClinGen |
|
|
CA405726554 rs1038510682 |
204 | N>T | No |
TOPMed ClinGen |
|
|
rs1297572363 CA405726548 |
205 | P>S | No |
ClinGen gnomAD |
|
|
CA405726541 rs952042274 |
206 | A>E | No |
Ensembl ClinGen |
|
|
CA308149597 rs952042274 |
206 | A>V | No |
ClinGen Ensembl |
|
|
CA9421313 rs370738324 |
208 | H>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA9421311 rs201437690 CA9421310 |
209 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9421309 rs201437690 |
209 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA405726507 rs1352608507 |
212 | W>S | No |
ClinGen TOPMed |
|
|
CA9421308 rs763988079 |
215 | G>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA9421307 rs763988079 |
215 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150811577 CA9421306 |
216 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1193499814 CA405726466 |
218 | S>R | No |
TOPMed gnomAD ClinGen |
|
|
rs34570303 CA405726461 |
219 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9421304 rs34570303 |
219 | P>R | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA405726465 rs1487605433 |
219 | P>S | No |
ClinGen gnomAD |
|
|
CA9421302 rs776874731 |
220 | E>* | No |
ExAC gnomAD ClinGen |
|
|
rs771242147 CA9421301 |
220 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA308149578 rs35730797 |
221 | V>A | No |
ClinGen Ensembl |
|
| TCGA novel | 221 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405726445 rs1216102275 |
222 | D>G | No |
TOPMed gnomAD ClinGen |
|
|
CA9421299 rs777980220 |
226 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308149560 rs748596055 |
227 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9421297 rs748596055 |
227 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs890841367 CA308149558 |
227 | A>V | No |
ClinGen TOPMed |
|
|
CA405726407 rs1457025331 |
229 | A>T | No |
gnomAD ClinGen |
|
|
CA405726402 rs1347756566 |
229 | A>V | No |
ClinGen gnomAD |
|
|
rs749507941 CA9421296 |
230 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 234 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755485365 CA9421295 |
235 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA405726368 rs1041411574 |
235 | E>K | No |
TOPMed ClinGen |
|
|
rs1041411574 CA308149556 |
235 | E>Q | No |
TOPMed ClinGen |
|
|
rs749883285 CA9421294 |
236 | E>K | No |
ExAC gnomAD ClinGen |
|
|
rs1170446154 CA405726351 |
237 | E>A | No |
ClinGen gnomAD |
|
|
rs578227113 CA9421293 |
238 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 239 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9421291 rs751271925 |
240 | E>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA9421292 rs756872598 |
240 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA405726328 rs1488235282 |
241 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 242 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9421290 rs763782042 |
242 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 243 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9421289 rs762744479 |
243 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1257158370 CA405726308 |
244 | E>* | No |
gnomAD ClinGen |
|
|
CA405726302 rs1216623235 |
244 | E>D | No |
gnomAD ClinGen |
|
|
CA405726293 rs1386149354 |
246 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs1386149354 CA405726291 |
246 | R>M | No |
ClinGen gnomAD |
|
|
rs752450623 CA9421288 |
246 | R>W | No |
ExAC gnomAD ClinGen |
|
|
CA9421287 rs62640393 |
248 | D>E | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1375839381 CA405726273 |
249 | D>N | No |
ClinGen TOPMed |
|
|
rs759578897 CA9421286 |
250 | P>L | No |
ExAC gnomAD ClinGen |
|
|
rs1362084583 CA405726263 |
250 | P>S | No |
gnomAD ClinGen |
|
|
CA9421285 rs544178228 |
251 | E>A | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs145427015 CA9421284 |
251 | E>D | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1442430742 CA405726259 |
251 | E>Q | No |
ClinGen gnomAD |
|
|
CA405726248 CA9421283 rs760797174 |
252 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432076467 CA405726245 |
253 | E>* | No |
gnomAD ClinGen |
|
|
CA9421282 rs377035423 |
256 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1423103996 CA405726204 |
257 | D>E | No |
TOPMed gnomAD ClinGen |
|
|
CA9421281 rs772185419 |
257 | D>Y | No |
ExAC gnomAD ClinGen |
|
|
CA405726183 rs1458366820 |
259 | L>F | No |
TOPMed gnomAD ClinGen |
|
|
rs1196528194 CA405726172 |
260 | T>P | No |
gnomAD ClinGen |
|
|
CA9421277 rs769108123 |
265 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA405726090 rs1464496927 |
266 | L>V | No |
gnomAD ClinGen |
|
|
rs780658663 CA9421275 |
267 | V>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA9421274 rs756817515 |
270 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1308476353 CA405726050 |
270 | R>W | No |
ClinGen gnomAD |
|
|
rs746507237 CA9421273 |
271 | S>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA405725994 rs1168487340 |
274 | V>A | No |
ClinGen TOPMed |
|
|
CA405725998 rs141313340 CA405725997 |
274 | V>L | No |
ESP TOPMed gnomAD ClinGen |
|
|
CA308149524 rs141313340 |
274 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9421271 rs758010105 |
277 | Q>K | No |
ExAC gnomAD ClinGen |
|
|
CA9421270 rs752498100 |
280 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA9421269 rs765167795 CA405725925 |
280 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405725910 rs1465953944 |
282 | R>P | No |
gnomAD ClinGen |
|
|
rs1600090540 CA405725897 |
283 | V>G | No |
ClinGen Ensembl |
|
|
rs1186942418 CA405725905 |
283 | V>M | No |
gnomAD ClinGen |
|
|
CA405725887 rs1448500025 |
284 | R>L | No |
ClinGen TOPMed |
|
|
rs1600090536 CA405725895 |
284 | R>S | No |
Ensembl ClinGen |
|
|
rs1161363036 CA405725879 |
285 | I>T | No |
TOPMed gnomAD ClinGen |
|
|
CA405725872 rs1379774051 |
286 | A>T | No |
ClinGen gnomAD |
|
|
CA9421267 rs201138591 |
286 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766566003 CA9421266 |
289 | S>F | No |
ExAC gnomAD ClinGen |
|
|
CA405725804 rs1278330337 |
291 | G>C | No |
ClinGen TOPMed |
|
|
CA405725802 rs143140525 |
291 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405725806 rs1278330337 |
291 | G>R | No |
ClinGen TOPMed |
|
|
CA9421265 rs143140525 |
291 | G>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs572929934 CA9421264 |
292 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1352250773 CA405725763 |
294 | G>E | No |
gnomAD ClinGen |
|
|
CA405725759 rs1600090462 |
295 | S>A | No |
Ensembl ClinGen |
|
|
CA405725754 rs1306470671 |
295 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA405725756 rs1306470671 |
295 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA9421262 rs767726293 |
297 | D>A | No |
ExAC gnomAD ClinGen |
|
|
CA405725735 rs1212686000 |
297 | D>N | No |
ClinGen TOPMed |
|
|
rs1400687254 CA405725708 |
299 | A>D | No |
ClinGen gnomAD |
|
|
rs761969069 CA9421261 |
299 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405725702 rs1188414373 |
300 | T>M | No |
ClinGen gnomAD |
|
|
CA9421260 rs774666021 |
301 | E>Q | No |
ExAC gnomAD ClinGen |
|
|
CA308149505 rs757654881 |
305 | D>E | No |
Ensembl ClinGen |
|
|
rs1194621936 CA405725671 |
305 | D>G | No |
ClinGen TOPMed |
|
|
CA9421259 rs769057247 |
306 | V>M | No |
ExAC gnomAD ClinGen |
|
|
rs776042137 CA405725661 |
307 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA9421257 rs776042137 |
307 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA405725662 rs749779818 |
307 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs770300441 CA9421256 |
309 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA9421254 rs149104673 |
311 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149104673 CA405725637 |
311 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9421255 rs746481512 |
311 | T>P | No |
ExAC gnomAD ClinGen |
|
|
rs1421900438 CA405725636 |
312 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs1263589115 CA405725631 |
312 | D>V | No |
gnomAD ClinGen |
|
|
rs1212192098 CA405725626 |
313 | L>F | No |
ClinGen gnomAD |
|
|
rs952072084 CA308149499 |
315 | D>Y | No |
ClinGen gnomAD |
|
|
rs747808605 CA9421252 |
316 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs758039339 CA9421253 |
316 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9421251 rs539343419 |
318 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753693460 CA9421249 |
321 | S>A | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 321 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405725546 rs1339019311 |
325 | A>S | No |
ClinGen gnomAD |
|
|
CA405725548 rs1339019311 |
325 | A>T | No |
gnomAD ClinGen |
|
|
rs1350537227 CA405725536 |
327 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1178037223 CA405725524 |
328 | G>A | No |
TOPMed ClinGen |
|
|
rs1357189180 CA405725521 |
329 | S>G | No |
ClinGen TOPMed |
|
|
rs766358453 CA9421248 |
331 | G>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs758187756 CA9421246 |
332 | P>R | No |
ExAC gnomAD ClinGen |
|
|
rs752382508 CA308149487 |
335 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9421245 rs752382508 |
335 | P>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1162819173 CA405725466 |
337 | K>N | No |
gnomAD ClinGen |
|
|
CA405725457 rs1221418226 |
339 | E>K | No |
ClinGen TOPMed |
|
|
CA9421240 rs764435717 |
339 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA9421239 rs763246999 |
340 | D>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs145095885 CA9421238 |
341 | P>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs770295375 CA9421237 |
342 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770295375 CA405725438 |
342 | G>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs750375894 CA9421225 |
343 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1456296470 CA405725107 |
346 | E>* | No |
ClinGen TOPMed |
|
|
rs1180757916 CA405725106 |
346 | E>G | No |
ClinGen TOPMed |
|
|
rs1456296470 CA405725109 |
346 | E>K | No |
ClinGen TOPMed |
|
|
CA405725096 rs1238467935 |
347 | T>M | No |
gnomAD ClinGen |
|
|
rs1199654845 CA405725078 |
350 | C>F | No |
ClinGen gnomAD |
|
|
rs1256574565 CA405725073 |
351 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs113813704 CA308149395 |
352 | A>T | No |
ClinGen Ensembl |
|
|
rs1416493716 CA405725048 |
355 | A>T | No |
TOPMed ClinGen |
|
|
rs753531642 CA308149392 |
360 | A>T | No |
TOPMed gnomAD ClinGen |
|
|
rs1173493889 CA405724925 |
362 | W>L | No |
TOPMed ClinGen |
|
|
CA405724911 rs1555730738 |
363 | T>A | No |
ClinGen Ensembl |
|
|
rs943020608 CA308149390 |
363 | T>I | No |
ClinGen TOPMed |
|
|
CA9421224 rs781318149 |
364 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs987119206 CA308149388 |
368 | L>H | No |
Ensembl ClinGen |
|
|
rs757345688 CA9421223 |
369 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1310177375 CA405724782 |
369 | R>L | No |
gnomAD ClinGen |
|
|
CA308149383 rs373342358 |
371 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs373342358 CA9421222 |
371 | P>R | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1172758815 CA405724757 |
371 | P>T | No |
TOPMed gnomAD ClinGen |
|
|
CA9421221 rs764253612 COSM4140615 |
372 | E>D | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
rs1335975683 CA405724711 |
372 | E>G | No |
gnomAD ClinGen |
|
|
CA308149380 rs946423928 |
372 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA308149377 rs1020115538 |
373 | L>R | No |
Ensembl ClinGen |
|
|
rs1010002509 CA308149376 |
374 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA405724620 rs1170279832 |
377 | R>W | No |
ClinGen gnomAD |
|
|
rs1195078728 CA405724563 |
379 | R>P | No |
TOPMed ClinGen |
|
|
rs1236688897 CA405724463 |
383 | L>P | No |
ClinGen gnomAD |
|
|
rs112991515 CA308149370 |
384 | R>G | No |
TOPMed gnomAD ClinGen |
|
|
rs527823007 CA9421217 |
384 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA405724420 rs1486903180 |
385 | A>E | No |
TOPMed gnomAD ClinGen |
|
|
CA405724405 rs1422109035 |
386 | G>A | No |
ClinGen TOPMed |
|
|
CA308149365 CA405724411 rs762866990 |
386 | G>R | No |
TOPMed gnomAD ClinGen |
|
|
CA308149364 rs929243720 |
387 | A>G | No |
ClinGen Ensembl |
|
|
CA308149361 rs929243720 |
387 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
Ensembl ClinGen NCI-TCGA |
|
rs1046007265 CA308149358 |
389 | P>L | No |
Ensembl ClinGen |
|
| TCGA novel | 390 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1375011491 CA405724341 |
391 | G>V | No |
gnomAD ClinGen |
|
|
CA405724336 rs1401931386 |
392 | A>T | No |
TOPMed ClinGen |
|
|
CA405724311 rs1448552339 |
393 | Q>L | No |
ClinGen gnomAD |
|
|
CA405724302 CA405724301 rs1252744005 |
394 | G>R | No |
gnomAD ClinGen |
|
|
CA405724277 rs1360550156 |
395 | P>L | No |
ClinGen gnomAD |
|
|
CA405724284 rs1421452551 |
395 | P>T | No |
ClinGen gnomAD |
|
|
rs1417445576 CA405724269 |
396 | G>E | No |
ClinGen gnomAD |
|
|
CA308149341 rs886623702 |
397 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA405724258 rs1242134014 |
397 | P>S | No |
gnomAD ClinGen |
|
|
CA9421212 rs768380664 |
398 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308149338 rs768380664 |
398 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9421211 rs551994146 |
399 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA308149335 rs867530671 |
399 | G>K | No |
ClinGen Ensembl |
|
|
rs769534424 CA9421209 |
400 | Q>H | No |
ExAC ClinGen |
|
|
rs779874200 CA9421210 |
400 | Q>K | No |
ExAC TOPMed ClinGen |
|
|
CA9421208 rs745813323 |
402 | P>A | No |
ExAC gnomAD ClinGen |
|
|
CA9421207 rs8110393 VAR_038926 |
402 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA405724134 rs8110393 |
402 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376584524 CA9421206 |
403 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751598945 CA9421205 |
403 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs777872922 CA9421204 |
404 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA405724040 rs1039521721 |
407 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA308149320 rs1039950566 |
409 | R>G | No |
TOPMed gnomAD ClinGen |
|
|
rs752978765 CA9421202 |
409 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752978765 CA405723976 |
409 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1039950566 CA405723987 |
409 | R>S | No |
TOPMed gnomAD ClinGen |
|
|
rs563133966 CA9421201 |
410 | I>V | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA9421199 rs754247587 |
411 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA308149310 rs911862293 |
411 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA308149306 rs986763414 |
412 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA405723911 rs986763414 |
412 | E>K | No |
TOPMed gnomAD ClinGen |
|
|
CA308149308 rs986763414 |
412 | E>Q | No |
TOPMed gnomAD ClinGen |
|
|
CA405723868 rs1163278858 |
413 | R>C | No |
TOPMed gnomAD ClinGen |
|
|
rs955244610 CA308149305 |
413 | R>H | No |
TOPMed gnomAD ClinGen |
|
|
CA405723874 rs1163278858 |
413 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA405723846 rs1264608949 |
414 | L>F | No |
ClinGen gnomAD |
|
|
rs1193031998 CA405723833 |
415 | A>T | No |
gnomAD ClinGen |
|
|
CA405723788 rs1487308697 |
416 | H>Q | No |
gnomAD ClinGen |
|
|
rs1248539378 CA405723744 |
418 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs766744570 CA9421198 |
419 | A>P | No |
ExAC gnomAD ClinGen |
|
|
rs1302403172 CA405723708 |
420 | A>T | No |
ClinGen TOPMed |
|
|
CA405723686 rs1220290323 |
421 | C>R | No |
ClinGen gnomAD |
|
|
CA405723628 rs1277412793 |
423 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA405723616 rs1241836202 |
424 | R>C | No |
ClinGen TOPMed |
|
|
CA308149291 rs988601854 |
424 | R>L | No |
Ensembl ClinGen |
|
|
CA9421195 rs768327473 |
425 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768327473 CA405723589 |
425 | R>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs762680246 CA405723560 |
426 | K>N | No |
ExAC gnomAD ClinGen |
|
|
rs1293640615 CA405723531 |
427 | V>A | No |
gnomAD ClinGen |
|
|
rs1435276402 CA405723481 |
430 | L>F | No |
ClinGen gnomAD |
|
|
CA9421193 rs775069678 |
430 | L>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA308149282 rs868144289 |
432 | E>D | No |
Ensembl ClinGen |
|
|
rs769491150 CA9421192 |
433 | V>L | No |
ExAC gnomAD ClinGen |
|
|
rs769491150 CA308149280 |
433 | V>M | No |
ExAC gnomAD ClinGen |
|
|
rs1170512688 CA405723291 |
436 | D>G | No |
gnomAD ClinGen |
|
|
CA405723272 rs1427279156 |
437 | V>I | No |
ClinGen gnomAD |
|
|
rs770823837 CA9421189 |
438 | Y>* | No |
ExAC gnomAD ClinGen |
|
|
CA405723234 rs1488264934 |
438 | Y>C | No |
gnomAD ClinGen |
|
|
CA405723246 rs1191886234 |
438 | Y>H | No |
gnomAD ClinGen |
|
|
CA405723236 rs1488264934 |
438 | Y>S | No |
gnomAD ClinGen |
|
|
rs758543281 CA9421187 |
439 | A>E | No |
ExAC gnomAD ClinGen |
|
|
CA9421186 rs758543281 |
439 | A>G | No |
ExAC gnomAD ClinGen |
|
|
CA9421188 rs747000564 |
439 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA405723187 rs1196635677 |
440 | G>S | No |
ClinGen gnomAD |
|
|
rs778949362 CA9421184 |
441 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs755254038 CA9421183 |
443 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755254038 CA405723115 |
443 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405723108 rs113728915 |
443 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA9421182 rs113728915 |
443 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1310907005 CA405723083 |
444 | G>D | No |
ClinGen gnomAD |
|
|
CA308149264 rs939160689 |
444 | G>S | No |
ClinGen TOPMed |
|
|
rs766802528 CA405723074 |
445 | E>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA9421181 rs766802528 |
445 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs764405811 CA9421164 |
448 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405723001 rs1331132504 |
448 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA405723005 rs1331132504 |
448 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9421163 rs756612255 |
449 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA405722906 rs756612255 |
449 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA9421162 rs750820451 |
450 | L>P | No |
ExAC ClinGen |
|
|
rs757804252 CA9421160 |
454 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1353677264 CA405722790 |
455 | F>C | No |
TOPMed ClinGen |
|
|
CA405722769 rs1352508228 |
457 | P>A | No |
gnomAD ClinGen |
|
|
CA405722762 rs1258659685 |
457 | P>L | No |
gnomAD ClinGen |
|
|
rs147778742 CA9421159 |
459 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1463117146 CA405722718 |
461 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1463117146 CA405722716 |
461 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs764851936 CA9421158 |
463 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA308149183 rs935857038 |
463 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs553881151 CA308149180 |
464 | I>F | No |
ExAC gnomAD ClinGen |
|
|
rs553881151 CA9421157 |
464 | I>V | No |
ExAC gnomAD ClinGen |
|
|
CA9421156 rs769865743 |
467 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1400763441 CA405722589 |
468 | D>E | No |
gnomAD ClinGen |
|
|
rs925767867 CA308149175 |
468 | D>Y | No |
ClinGen gnomAD |
|
|
CA405722574 rs547809211 |
469 | I>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA9421154 rs547809211 |
469 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413632456 CA405722582 |
469 | I>V | No |
TOPMed ClinGen |
|
|
rs1213297622 CA405722538 |
471 | D>E | No |
TOPMed ClinGen |
|
|
CA9421152 rs771961902 |
472 | T>A | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 474 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405722431 rs1600088579 |
483 | L>F | No |
ClinGen Ensembl |
|
|
rs1427149776 CA405722418 |
485 | P>R | No |
Ensembl ClinGen |
|
|
rs774269200 CA9421150 |
485 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs749463854 CA405722394 |
489 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA405722391 rs1365927213 |
489 | R>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 489 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9421145 rs771470330 |
491 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA405722318 rs1317017163 |
492 | A>V | No |
TOPMed ClinGen |
|
|
rs1351035078 CA405722290 |
494 | Y>C | No |
TOPMed ClinGen |
|
|
rs778287881 CA9421121 |
495 | Y>C | No |
ExAC ClinGen |
|
|
rs1254163965 CA405722246 |
496 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA405722233 rs1302866457 |
497 | T>N | No |
gnomAD ClinGen |
|
|
CA405722213 rs1324345743 |
498 | T>M | No |
TOPMed ClinGen |
|
|
CA9421120 rs758854340 |
500 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 502 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1402139827 CA405722156 |
502 | A>T | No |
ClinGen gnomAD |
|
|
rs753310016 CA9421119 |
504 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1173818428 CA405722059 |
507 | A>S | No |
TOPMed gnomAD ClinGen |
|
|
rs1173818428 CA405722061 |
507 | A>T | No |
TOPMed gnomAD ClinGen |
|
|
rs779582845 CA9421118 |
507 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs755738268 CA9421116 |
510 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs750129340 CA9421115 |
511 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA308149119 rs892466769 |
514 | D>E | No |
TOPMed ClinGen |
|
| TCGA novel | 514 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 515 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9421113 rs561658803 |
515 | R>G | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs528085067 CA405721996 |
516 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs528085067 CA9421111 |
516 | A>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs528085067 CA9421110 |
516 | A>T | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA405721995 rs1443316320 |
516 | A>V | No |
gnomAD ClinGen |
|
|
rs374497752 CA9421108 |
518 | R>P | No |
ESP ExAC gnomAD ClinGen |
|
|
rs374497752 CA405721985 |
518 | R>Q | No |
ESP ExAC gnomAD ClinGen |
|
|
CA9421109 rs775679788 |
518 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs925829070 CA308149115 |
519 | G>A | No |
Ensembl ClinGen |
|
|
rs1468271417 CA405721936 |
522 | S>A | No |
ClinGen TOPMed |
|
|
CA405721914 rs1186199061 |
523 | E>* | No |
Ensembl ClinGen |
|
|
CA405721872 rs1568384821 |
525 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA405721874 rs1568384821 |
525 | R>G | No |
ClinGen Ensembl |
|
|
CA405721863 rs1441299731 |
526 | A>T | No |
gnomAD ClinGen |
|
|
CA308149107 rs200476957 |
529 | H>Q | No |
Ensembl ClinGen |
|
|
CA9421102 rs140416410 |
529 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405721776 rs1374284241 |
530 | Q>H | No |
gnomAD ClinGen |
|
|
CA405721782 rs1163435007 |
530 | Q>R | No |
ClinGen TOPMed |
|
|
CA9421100 rs772604618 |
533 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs753675607 CA9421099 |
533 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9421098 rs753675607 |
533 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs755685223 CA9421097 |
534 | R>K | No |
ClinGen ExAC |
|
| TCGA novel | 534 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405721691 rs1159623296 |
535 | R>L | No |
gnomAD ClinGen |
|
|
rs1159623296 CA405721695 |
535 | R>Q | No |
gnomAD ClinGen |
|
|
rs1466478403 CA405721700 |
535 | R>W | No |
TOPMed ClinGen |
|
|
rs1443529463 CA405721641 |
538 | H>Q | No |
ClinGen gnomAD |
|
|
CA405721648 rs1600087983 |
538 | H>R | No |
ClinGen Ensembl |
|
|
rs780838033 CA9421095 |
538 | H>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA9421094 rs756880578 |
539 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751328829 CA9421092 |
541 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA405721585 rs1357482557 |
543 | P>T | No |
TOPMed ClinGen |
|
|
CA405721553 rs1476411285 |
544 | R>S | No |
Ensembl ClinGen |
|
|
rs147291135 CA405721440 |
547 | A>S | No |
ClinGen ESP ExAC TOPMed |
|
|
CA9421079 rs147291135 |
547 | A>T | No |
ESP ExAC TOPMed ClinGen |
|
|
rs745332133 CA9421078 |
548 | N>S | No |
ExAC gnomAD ClinGen |
|
|
CA405721390 rs1377439533 |
550 | P>T | No |
ClinGen TOPMed |
|
|
CA405721324 rs1413014430 |
554 | P>A | No |
ClinGen TOPMed |
|
|
rs1340545763 CA405721313 |
555 | W>* | No |
gnomAD ClinGen |
|
|
COSM3692735 rs756901954 CA9421076 |
555 | W>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA405721302 rs1269111485 |
557 | E>* | No |
gnomAD ClinGen |
|
|
CA405721291 rs1351317812 |
558 | E>D | No |
ClinGen gnomAD |
|
|
CA308149072 rs768985748 |
558 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs746689126 CA9421075 |
562 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA405721264 rs1462232351 |
563 | T>S | No |
gnomAD ClinGen |
|
|
rs758201815 CA9421073 |
564 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405721240 rs1163340338 |
566 | N>I | No |
ClinGen gnomAD |
|
|
rs890620294 CA308149063 |
567 | N>Y | No |
ClinGen TOPMed |
No associated diseases with Q6ZS11
No regional properties for Q6ZS11
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q6ZS11 | |||
4 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. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endocytic vesicle | A membrane-bounded intracellular vesicle formed by invagination of the plasma membrane around an extracellular substance. Endocytic vesicles fuse with early endosomes to deliver the cargo for further sorting. |
| ruffle | Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
| guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
| small GTPase binding | Binding to a small monomeric GTPase. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| 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. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P54787 | VPS9 | Vacuolar protein sorting-associated protein 9 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAQPEDKAPE | VPTEGVRLVP | PQVNKADRTP | LGVLSTLEPL | TRLQRTWGVW | HVPELDTQDA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EALVGLWPLG | SFLVTGRDPS | QALVLRSGPL | PGEVNTYQIQ | KIPRGVSLES | SNLCMPDLPH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LLAFLSASRD | VLPRTLLLPP | PTLGPRDEHT | DPVQIGRVQQ | DTPGKVLSIV | NQLYLETHRG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| WGREQTPQET | EPEAAQRHDP | APRNPAPHGV | SWVKGPLSPE | VDHPGPALAS | LLEEEEEDLE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GKEEGREDDP | EEEGPEDVLT | IHVQSLVRAR | SSYVARQYRS | LRVRIASDSG | GPHGSGDPAT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ELLQDVRHLL | TDLQDHLAKD | SYIRAVFGSR | GPGLPKKDED | PGPALETAVC | QAVLAPLKPA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LWTRLRTLRA | PELRRLRRRQ | TALRAGAGPP | GAQGPGPEGQ | SPAPALRSRI | HERLAHLHAA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CAPRRKVALL | LEVCRDVYAG | LARGENQDPL | GADAFLPALT | EELIWSPDIG | DTQLDVEFLM |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ELLDPDELRG | EAGYYLTTWF | GALHHIAHYQ | PETDRAPRGL | SSEARASLHQ | WHRRRTLHRK |
| 550 | 560 | ||||
| DHPRAQANLP | FKEPWAEETV | TGTSDN |