Q96F07
PR
Gene name |
CYFIP2 |
Protein name |
Cytoplasmic FMR1-interacting protein 2 |
Names |
p53-inducible protein 121 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:26999 |
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 Q96F07
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96F07-F1 | Predicted | AlphaFoldDB |
595 variants for Q96F07
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000656389 VAR_080817 RCV001174530 RCV001266302 rs1131692231 RCV001856988 CA361965782 |
87 | R>C | Developmental and epileptic encephalopathy, 65 Variant assessed as Somatic; impact. Inborn genetic diseases DEE65 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000656388 VAR_080818 rs1554108163 CA361965785 |
87 | R>L | Developmental and epileptic encephalopathy, 65 DEE65 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1554108163 VAR_080819 CA361965784 RCV000656390 RCV001384044 |
87 | R>P | Developmental and epileptic encephalopathy, 65 DEE65 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1131692231 CA361965780 RCV000987625 |
87 | R>S | Developmental and epileptic encephalopathy, 65 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA3533525 RCV001266446 rs771368440 RCV002541626 |
358 | R>H | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001250402 rs1760440801 |
455 | A>P | Developmental and epileptic encephalopathy, 65 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000995753 CA361968887 rs971284726 |
468 | E>D | Developmental and epileptic encephalopathy, 65 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA130173886 rs868243549 RCV001329522 |
514 | R>* | Developmental and epileptic encephalopathy, 65 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001879764 rs1663188420 RCV001249779 |
587 | R>W | CYFIP2-related neurodevelopmental disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001329523 rs1760952349 |
637 | Q>K | Developmental and epileptic encephalopathy, 65 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs369858004 RCV001250400 |
664 | I>M | Developmental and epileptic encephalopathy, 65 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001261365 rs1760957806 RCV001250401 |
665 | E>K | Developmental and epileptic encephalopathy, 65 Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1761007330 RCV001329524 |
696 | N>D | Developmental and epileptic encephalopathy, 65 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1761011834 RCV001527669 RCV001268518 |
714 | E>G | Developmental and epileptic encephalopathy, 65 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001027702 rs1581069148 CA361970696 |
724 | D>G | Developmental and epileptic encephalopathy, 65 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001250403 rs1581069143 |
724 | D>H | Developmental and epileptic encephalopathy, 65 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA361970693 RCV001027670 rs1581069143 |
724 | D>Y | Developmental and epileptic encephalopathy, 65 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1761161860 RCV001250399 |
725 | Q>R | Developmental and epileptic encephalopathy, 65 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001880149 CA3533829 RCV001267558 rs373467559 |
808 | I>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001871883 rs934692505 RCV001336182 CA130181537 |
819 | I>T | Developmental and epileptic encephalopathy, 65 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001329525 rs1762073906 |
878 | N>S | Developmental and epileptic encephalopathy, 65 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001266821 rs1767447649 |
1231 | R>W | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1241752177 CA361965011 |
3 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA361965026 rs1421838253 |
5 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1171593312 CA361965082 |
10 | A>S | No |
ClinGen gnomAD |
|
|
CA361965112 rs1359793519 |
13 | N>D | No |
ClinGen gnomAD |
|
|
CA361965138 rs1580971770 |
15 | D>A | No |
ClinGen Ensembl |
|
| TCGA novel | 22 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361965216 rs1580971838 |
22 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 29 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361965309 rs1206182927 |
30 | E>K | No |
ClinGen gnomAD |
|
|
rs1461152506 CA361965322 |
31 | P>A | No |
ClinGen gnomAD |
|
|
rs1461152506 CA361965325 |
31 | P>S | No |
ClinGen gnomAD |
|
|
CA361965374 rs1186118351 |
36 | I>V | No |
ClinGen gnomAD |
|
|
rs369640959 CA130143628 |
37 | M>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1364445744 CA361965391 |
37 | M>T | No |
ClinGen TOPMed |
|
|
CA130143621 rs371710290 |
37 | M>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3533273 rs756226998 |
43 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 47 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361965498 rs1335366357 |
49 | R>K | No |
ClinGen TOPMed |
|
|
rs1465794047 CA361965616 |
66 | H>R | No |
ClinGen TOPMed |
|
|
rs1580994172 CA361965680 |
72 | M>I | No |
ClinGen Ensembl |
|
|
rs1462491993 CA361965688 |
74 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1241385487 CA361965699 |
75 | E>A | No |
ClinGen TOPMed |
|
|
CA361965712 rs1201497625 |
77 | H>Y | No |
ClinGen gnomAD |
|
|
CA3533305 rs373074465 |
78 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA361965733 rs1317603023 |
80 | A>T | No |
ClinGen TOPMed |
|
|
rs866878368 CA130151060 |
80 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1474759625 CA361965747 |
82 | M>T | No |
ClinGen gnomAD |
|
|
rs759428926 CA3533307 |
82 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 83 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1561699191 | 95 | Q>P | No | Ensembl | |
|
rs1580994394 CA361965833 |
95 | Q>P | No |
ClinGen Ensembl |
|
| TCGA novel | 98 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3533339 rs753263281 |
100 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1049065748 CA130152204 |
103 | N>D | No |
ClinGen Ensembl |
|
| TCGA novel | 104 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361965936 rs1392531290 |
108 | Y>S | No |
ClinGen gnomAD |
|
|
CA130152220 rs772047793 |
109 | E>A | No |
ClinGen Ensembl |
|
|
rs763631624 CA3533341 |
117 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763631624 CA361965997 |
117 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3533340 rs750559695 |
117 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3533344 rs778708640 |
121 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1231011270 CA361966041 |
124 | K>Q | No |
ClinGen gnomAD |
|
|
rs758280534 CA3533346 |
126 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1422784359 CA361966168 |
130 | R>C | No |
ClinGen gnomAD |
|
| TCGA novel | 130 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764792377 CA3533362 |
132 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1256818259 CA361966208 |
133 | I>T | No |
ClinGen gnomAD |
|
|
rs1357183737 CA361966230 |
135 | R>Q | No |
ClinGen gnomAD |
|
|
CA361966229 rs1443507484 |
135 | R>W | No |
ClinGen TOPMed |
|
|
CA361966267 rs1280157801 |
138 | S>N | No |
ClinGen TOPMed |
|
|
rs1377123656 CA361966274 |
139 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA361966294 rs1581008322 |
140 | V>G | No |
ClinGen Ensembl |
|
|
rs780027307 CA3533365 |
140 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1225854186 CA361966328 |
144 | C>G | No |
ClinGen gnomAD |
|
|
rs865866918 CA130155165 |
146 | A>V | No |
ClinGen Ensembl |
|
|
CA130155195 rs779775850 |
147 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA361966405 rs1442196439 |
150 | K>R | No |
ClinGen gnomAD |
|
|
CA3533369 rs749327820 |
165 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3533370 rs369872275 |
166 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3533371 rs528604984 |
167 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA130155259 rs528604984 |
167 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1178497713 CA361966644 |
171 | L>Q | No |
ClinGen gnomAD |
|
|
CA361966712 rs1422812751 |
176 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361966772 rs1397718630 |
181 | V>I | No |
ClinGen gnomAD |
|
|
rs769152996 CA3533376 |
188 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA361966857 rs1205125891 |
191 | A>T | No |
ClinGen gnomAD |
|
|
CA361966861 rs1234450031 |
191 | A>V | No |
ClinGen gnomAD |
|
|
rs1385431468 CA361966877 |
194 | F>I | No |
ClinGen gnomAD |
|
|
CA361966891 rs1256720359 |
196 | R>W | No |
ClinGen gnomAD |
|
|
rs1411083790 CA361966928 |
201 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1331446131 CA361966943 |
203 | S>Y | No |
ClinGen gnomAD |
|
|
rs267600513 CA130161306 |
207 | S>L | No |
ClinGen Ensembl |
|
| TCGA novel | 213 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 213 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 214 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3533420 rs767171110 |
223 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA361967165 rs267600514 |
233 | G>R | No |
ClinGen gnomAD |
|
|
CA130162420 rs267600514 |
233 | G>S | No |
ClinGen gnomAD |
|
|
CA130162423 rs955653146 |
241 | I>V | No |
ClinGen TOPMed |
|
|
rs779088823 CA130162445 |
250 | E>K | No |
ClinGen Ensembl |
|
|
CA361967297 rs1363710900 |
251 | N>S | No |
ClinGen gnomAD |
|
|
CA361967305 rs1296466462 |
252 | K>M | No |
ClinGen gnomAD |
|
|
rs1561708197 CA361967308 |
253 | M>V | No |
ClinGen Ensembl |
|
|
rs1399394532 CA361967320 |
254 | Y>F | No |
ClinGen gnomAD |
|
|
rs751739881 CA3533427 |
254 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1302467306 CA361967336 |
257 | P>A | No |
ClinGen gnomAD |
|
|
CA3533429 rs781345564 |
258 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 262 | M>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3533430 rs748543983 |
262 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1167049602 CA361967422 |
267 | M>L | No |
ClinGen gnomAD |
|
| TCGA novel | 267 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1483212474 CA361967503 |
278 | V>A | No |
ClinGen TOPMed |
|
|
CA361967499 rs1292812959 |
278 | V>I | No |
ClinGen gnomAD |
|
|
rs1448668025 CA361967529 |
282 | Y>H | No |
ClinGen gnomAD |
|
|
CA361967545 rs1425190532 |
284 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3533460 rs761673467 |
286 | A>T | No |
ClinGen ExAC |
|
|
rs1581024840 CA361967566 |
287 | K>R | No |
ClinGen Ensembl |
|
|
CA130165162 rs974921667 |
294 | K>R | No |
ClinGen TOPMed |
|
|
CA361967624 rs1375758390 |
295 | I>T | No |
ClinGen gnomAD |
|
|
CA361967632 rs1156399205 |
296 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs866532867 CA130165169 |
297 | K>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 297 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361967664 rs1314336556 |
300 | K>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1482979029 CA361967681 |
301 | Q>* | No |
ClinGen gnomAD |
|
|
CA361967704 rs1422678427 |
304 | V>A | No |
ClinGen gnomAD |
|
|
CA361967700 rs1168431281 |
304 | V>M | No |
ClinGen gnomAD |
|
|
rs1414761449 CA361967710 |
305 | V>A | No |
ClinGen gnomAD |
|
|
rs1177834153 CA361967715 |
306 | P>H | No |
ClinGen gnomAD |
|
|
CA130166364 rs940976354 |
308 | F>Y | No |
ClinGen Ensembl |
|
|
rs1444797400 CA361967782 |
316 | A>S | No |
ClinGen TOPMed |
|
|
rs1341817209 CA361967789 |
317 | R>G | No |
ClinGen gnomAD |
|
|
rs769628287 CA3533479 |
319 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs3207362 CA130166389 |
320 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
VAR_030953 CA130166388 rs3207362 |
320 | K>E | RNA edited version [UniProt] | No |
ClinGen UniProt Ensembl dbSNP |
|
rs1278048851 CA361967824 |
322 | S>N | No |
ClinGen gnomAD |
|
|
rs766783609 CA130166410 |
323 | A>T | No |
ClinGen Ensembl |
|
|
rs1221242924 CA361967837 |
324 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA361967838 rs1221242924 |
324 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs773104584 CA3533480 |
328 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs533976899 CA3533481 |
329 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361967882 rs1216768680 |
330 | S>P | No |
ClinGen gnomAD |
|
|
CA3533482 rs772144956 |
331 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs148350606 CA3533517 |
333 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361967940 TCGA novel rs1374314708 |
336 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
| TCGA novel | 337 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780920901 CA3533519 |
338 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361967975 rs1438922382 |
341 | P>R | No |
ClinGen TOPMed |
|
|
CA3533521 rs748322670 |
342 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 342 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361967993 rs1478475027 |
344 | N>D | No |
ClinGen gnomAD |
|
|
rs548540530 CA3533523 |
349 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361968032 rs1465390767 |
349 | M>V | No |
ClinGen gnomAD |
|
|
CA361968048 rs1404679458 |
351 | Q>P | No |
ClinGen gnomAD |
|
|
CA130167668 rs990110659 |
353 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1473601392 CA361968071 |
354 | D>E | No |
ClinGen gnomAD |
|
|
rs763206176 CA361968096 |
358 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3533524 rs763206176 |
358 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3533526 rs568356129 |
359 | F>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3533527 rs760060931 |
360 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA361968128 rs1256350092 |
363 | L>F | No |
ClinGen gnomAD |
|
|
rs760249068 CA3533530 |
364 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs760249068 CA361968132 |
364 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA361968139 rs1478185896 |
365 | R>C | No |
ClinGen TOPMed |
|
|
CA361968140 rs1245707971 |
365 | R>H | No |
ClinGen TOPMed |
|
|
rs1279004616 CA361968152 |
367 | S>G | No |
ClinGen gnomAD |
|
|
rs772567936 CA3533546 |
373 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs772567936 CA361968211 |
373 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453047125 CA361968235 |
378 | D>N | No |
ClinGen gnomAD |
|
|
rs965601006 CA130169867 |
380 | Q>E | No |
ClinGen Ensembl |
|
|
CA3533550 rs368645883 |
383 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3533548 rs760152670 |
383 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361968282 rs1581039353 |
384 | E>G | No |
ClinGen Ensembl |
|
|
rs1486007509 CA361968278 |
384 | E>K | No |
ClinGen TOPMed |
|
|
rs781678629 CA3533552 |
385 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs750246368 CA3533553 |
387 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3533554 rs758334790 |
387 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs750246368 CA361968301 |
387 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267600515 CA130169897 |
388 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs267600515 CA3533556 |
388 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3533558 rs777932320 |
391 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs749414939 CA3533559 |
394 | L>V | No |
ClinGen ExAC gnomAD |
|
|
RCV001091685 CA361968349 rs1459314371 |
395 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA361968348 rs1239141371 |
395 | R>W | No |
ClinGen gnomAD |
|
|
rs745821702 CA3533560 |
396 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs779176531 CA3533561 |
398 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 400 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775941668 CA3533564 |
405 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1459779106 RCV001310881 |
406 | H>Q | No |
ClinVar dbSNP |
|
|
CA361968420 rs1474295904 |
406 | H>R | No |
ClinGen gnomAD |
|
|
CA3533565 rs747579286 |
407 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs528137322 CA3533566 |
408 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 415 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1433894737 CA361968518 |
418 | P>L | No |
ClinGen TOPMed |
|
|
rs1279320547 CA361968577 |
426 | D>A | No |
ClinGen gnomAD |
|
| TCGA novel | 426 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779089894 CA3533578 |
430 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1470256053 CA361968607 |
431 | A>T | No |
ClinGen TOPMed |
|
|
rs758726132 CA3533580 |
431 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs777072724 CA3533584 |
438 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA361968664 rs1476300276 |
439 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1478749882 CA361968697 |
443 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1194250877 CA361968722 |
447 | K>Q | No |
ClinGen TOPMed |
|
|
CA361968752 rs1418524864 |
451 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs770700428 CA3533606 |
461 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA361968836 rs1337604840 |
461 | Q>R | No |
ClinGen TOPMed |
|
|
rs1311634660 CA361968854 |
464 | M>T | No |
ClinGen gnomAD |
|
|
CA361968852 rs1447791798 |
464 | M>V | No |
ClinGen gnomAD |
|
|
rs1332632467 CA361968866 |
466 | R>G | No |
ClinGen TOPMed |
|
|
CA130173386 rs866027154 |
468 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs759348805 CA3533608 |
470 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA361968914 rs1406302424 |
472 | N>S | No |
ClinGen TOPMed |
|
|
rs1034338489 CA130173403 |
480 | Y>F | No |
ClinGen TOPMed |
|
| TCGA novel | 481 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771799085 CA3533609 |
481 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747636391 CA3533610 |
481 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 482 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1239470942 CA361969015 |
487 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1158518688 CA361969031 |
489 | V>E | No |
ClinGen gnomAD |
|
|
CA3533614 rs763089939 |
489 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361969037 rs1478391225 |
490 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs755329609 CA3533617 |
492 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA130173424 rs370137201 |
494 | P>S | No |
ClinGen ESP TOPMed |
|
|
CA3533618 rs781431530 |
496 | R>Q | Variant assessed as Somatic; 4.64e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs753188984 CA3533619 |
498 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361969089 rs1581051078 |
499 | V>G | No |
ClinGen Ensembl |
|
|
rs1333538280 CA361969085 |
499 | V>I | No |
ClinGen gnomAD |
|
|
rs1334093854 CA361969092 |
500 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1352949437 CA361969108 |
502 | K>R | No |
ClinGen TOPMed |
|
|
CA3533622 rs748790899 |
503 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372630008 CA3533643 |
509 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1229887836 CA361969203 |
515 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs895353962 CA130173901 |
517 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 518 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361969256 rs1427383890 |
522 | G>R | No |
ClinGen gnomAD |
|
|
rs746795054 CA3533646 |
524 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs768490332 CA3533647 |
526 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA130173923 rs866280463 |
527 | P>S | No |
ClinGen Ensembl |
|
|
rs1374827540 CA361969292 |
528 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 535 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1320119714 CA361969350 |
536 | K>R | No |
ClinGen gnomAD |
|
|
CA3533649 rs748115365 |
543 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA361969397 rs1275022534 |
543 | D>H | No |
ClinGen gnomAD |
|
|
rs770984179 CA3533650 |
545 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278958471 CA361969417 |
546 | V>M | No |
ClinGen gnomAD |
|
|
rs1260104340 CA361969430 |
548 | R>Q | No |
ClinGen gnomAD |
|
|
rs1043836870 CA130173941 |
548 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA361969483 rs1397162142 |
557 | Q>K | No |
ClinGen gnomAD |
|
|
CA361969545 rs1193169001 |
563 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1420905117 CA361969565 |
566 | L>F | No |
ClinGen gnomAD |
|
|
CA361969577 rs1581057838 |
568 | H>P | No |
ClinGen Ensembl |
|
|
rs1452936034 CA361969604 |
572 | G>V | No |
ClinGen gnomAD |
|
|
CA361969607 rs1252924350 |
573 | T>A | No |
ClinGen TOPMed |
|
|
rs746704977 CA3533663 |
574 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1196461908 CA361969622 |
575 | G>D | No |
ClinGen TOPMed |
|
|
CA130175106 rs935305186 |
576 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs368825709 CA130175111 |
576 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs754728174 CA3533664 |
577 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA361969629 rs1295694978 |
577 | R>K | No |
ClinGen gnomAD |
|
|
CA3533665 rs780977916 |
578 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA361969646 rs1581057989 |
579 | C>W | No |
ClinGen Ensembl |
|
|
rs748051190 CA3533666 |
580 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361969649 rs988082033 |
580 | R>L | No |
ClinGen gnomAD |
|
|
rs988082033 CA130175129 |
580 | R>Q | No |
ClinGen gnomAD |
|
|
rs1581058022 CA361969655 |
581 | S>F | No |
ClinGen Ensembl |
|
|
rs1275445705 CA361969660 |
582 | L>P | No |
ClinGen gnomAD |
|
|
rs1246158458 CA361969657 |
582 | L>V | No |
ClinGen gnomAD |
|
|
CA130175606 rs865828464 |
583 | L>M | No |
ClinGen Ensembl |
|
|
CA361969685 rs1211552023 |
585 | M>L | No |
ClinGen gnomAD |
|
|
CA361969702 rs1484638367 |
587 | R>Q | No |
ClinGen gnomAD |
|
|
CA361969710 rs1561727470 |
588 | T>N | No |
ClinGen Ensembl |
|
| TCGA novel | 591 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1429933378 CA361969759 |
596 | D>N | No |
ClinGen gnomAD |
|
|
rs1372022291 CA361969784 |
599 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 605 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3533675 rs370992962 |
607 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765652619 CA3533677 |
609 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA3533680 rs757817918 |
612 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3533679 rs757817918 |
612 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361969892 rs1295078317 |
616 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3533683 rs778090546 |
617 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA361969911 rs1267012960 |
618 | D>E | No |
ClinGen gnomAD |
|
|
rs1199949263 CA361969923 |
620 | H>Y | No |
ClinGen TOPMed |
|
|
CA361969930 rs1236656663 |
621 | K>E | No |
ClinGen gnomAD |
|
|
rs1278268986 CA361969934 |
621 | K>R | No |
ClinGen gnomAD |
|
|
CA361969946 rs1209989067 |
623 | S>A | No |
ClinGen gnomAD |
|
|
CA361969966 rs1184436577 |
625 | F>L | No |
ClinGen gnomAD |
|
|
rs1482284867 CA361969982 |
628 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1399453268 CA361970066 |
638 | Q>R | No |
ClinGen gnomAD |
|
|
CA130176560 CA361970092 rs767132778 |
641 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463225001 CA361970093 |
642 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 644 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1281329663 CA361970115 |
645 | L>F | No |
ClinGen gnomAD |
|
|
CA3533705 rs753656201 |
645 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA361970154 rs1342557086 |
650 | F>L | No |
ClinGen TOPMed |
|
|
rs1335168529 CA361970194 |
656 | M>R | No |
ClinGen gnomAD |
|
|
CA3533707 rs779064849 |
658 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1467738313 CA361970211 |
659 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361970256 rs1469059236 |
665 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 669 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1255540251 CA361970298 |
671 | I>V | No |
ClinGen Ensembl |
|
|
rs748435704 CA3533711 |
673 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1331047842 CA361970370 |
681 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 682 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 685 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361970457 rs1280400313 |
692 | L>V | No |
ClinGen gnomAD |
|
|
CA361970487 rs199725246 |
696 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3533734 rs749628390 |
696 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3533736 rs774796737 |
697 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361970505 rs566311656 |
699 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3533738 rs566311656 |
699 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1484965602 CA361970513 |
700 | Y>C | No |
ClinGen TOPMed |
|
|
rs1174417313 CA361970522 |
701 | Y>C | No |
ClinGen gnomAD |
|
|
CA361970525 rs999593337 |
702 | A>S | No |
ClinGen TOPMed |
|
|
CA130177015 rs999593337 |
702 | A>T | No |
ClinGen TOPMed |
|
|
rs760173046 CA3533740 |
703 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249206368 CA361970541 |
705 | K>E | No |
ClinGen TOPMed |
|
|
rs1171630496 CA361970557 |
707 | K>E | No |
ClinGen gnomAD |
|
|
rs11551374 CA130177047 |
712 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1324383497 CA361970602 |
713 | D>N | No |
ClinGen gnomAD |
|
|
CA361970622 rs1292109821 |
715 | I>M | No |
ClinGen TOPMed |
|
|
rs1334962669 CA361970618 |
715 | I>V | No |
ClinGen TOPMed |
|
|
rs1443924850 CA361970661 |
719 | V>A | No |
ClinGen TOPMed |
|
|
CA3533764 rs577801159 |
734 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3533765 rs751489126 |
735 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs760767488 CA3533766 |
740 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA3533767 rs764101175 |
741 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs750788982 CA3533768 |
743 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA3533781 rs762775564 |
745 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs764091827 CA3533785 |
748 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3533784 rs759402047 |
748 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs535692197 CA3533786 |
750 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1415929389 CA361970884 |
750 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA361970896 rs1353891660 |
752 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3533788 rs765425949 |
752 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1205752398 CA361970949 |
759 | G>V | No |
ClinGen TOPMed |
|
|
rs1341378145 CA361970951 |
760 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs752048205 CA3533792 |
761 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1211441355 CA361970958 |
761 | I>V | No |
ClinGen gnomAD |
|
|
CA130179960 rs367713994 |
763 | P>L | No |
ClinGen ESP TOPMed |
|
|
CA3533795 rs747638094 |
764 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781781815 CA3533794 |
764 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 765 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769467382 CA3533796 |
766 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3533798 rs748914944 |
768 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3533799 rs770698075 |
769 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs376060688 CA3533800 |
769 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA130179989 rs1024659556 |
771 | E>A | No |
ClinGen gnomAD |
|
|
rs980392146 CA130180004 |
779 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs771896801 CA3533822 |
786 | I>T | No |
ClinGen ExAC |
|
|
rs549089526 CA3533821 |
786 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1267140890 CA361971145 |
788 | L>F | No |
ClinGen gnomAD |
|
|
CA130181495 rs896876354 |
790 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA130181510 rs991288109 |
793 | T>S | No |
ClinGen Ensembl |
|
|
rs769807842 CA3533825 |
795 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs17850790 CA130181519 |
796 | I>T | No |
ClinGen Ensembl |
|
| TCGA novel | 797 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361971212 rs1410666252 |
799 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA361971211 rs1410666252 |
799 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1325126175 CA361971219 |
800 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA130181525 rs915714723 |
800 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1365489154 CA361971224 |
801 | Y>H | No |
ClinGen gnomAD |
|
|
CA361971252 rs1418922914 |
804 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1463208745 CA361971267 |
806 | Q>H | No |
ClinGen gnomAD |
|
|
CA130181530 rs947342930 |
807 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 807 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3533828 rs139353471 |
808 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361971290 rs1435701430 |
810 | R>H | No |
ClinGen gnomAD |
|
|
rs1210382953 CA361971313 |
813 | S>T | No |
ClinGen TOPMed |
|
|
rs772497690 CA3533849 |
822 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3533852 rs764483940 |
826 | L>R | No |
ClinGen ExAC |
|
|
rs201559066 CA3533851 |
826 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 827 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754411459 CA3533853 |
827 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1486835023 CA361971998 |
828 | I>S | No |
ClinGen gnomAD |
|
|
CA361971994 rs1258680778 |
828 | I>V | No |
ClinGen gnomAD |
|
|
CA3533856 RCV001310882 rs750024153 |
830 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs764829531 CA3533855 |
830 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA3533857 rs758052022 |
832 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374132627 CA3533860 |
833 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs780950093 CA3533861 |
834 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3533863 rs770858656 |
834 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs780950093 CA3533862 |
834 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3533864 rs779054237 |
837 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA361972047 rs1331935533 |
837 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 839 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3533865 rs534756048 |
839 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3533866 rs377648376 |
840 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763792787 CA3533867 |
841 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361972085 rs1581094733 |
842 | L>P | No |
ClinGen Ensembl |
|
|
CA3533870 rs776958013 |
846 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA361972118 rs1347728182 |
847 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1413796917 CA361972130 |
848 | M>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 848 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA130141687 rs58005665 |
850 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3533872 rs58005665 |
850 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs749930524 CA3533873 |
853 | N>S | No |
ClinGen ExAC |
|
|
CA361972176 rs1278354936 |
855 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA130141696 rs11551375 |
857 | S>P | No |
ClinGen Ensembl |
|
|
rs377031549 CA3533875 |
858 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3533876 rs751254864 |
862 | R>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 868 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 869 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361972363 rs1401165380 |
881 | Y>C | No |
ClinGen gnomAD |
|
|
CA361972377 rs1400952041 |
882 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 887 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 888 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs962853641 CA130142744 |
890 | R>Q | No |
ClinGen Ensembl |
|
|
rs867115883 CA130142728 |
890 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA3533908 rs371766099 |
892 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773906215 CA3533910 |
896 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375088064 CA3533911 |
899 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 901 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361972892 rs1162115179 |
903 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 905 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 905 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA130142775 rs373799565 |
912 | L>V | No |
ClinGen ESP |
|
|
rs768136187 CA130142779 |
913 | Y>H | No |
ClinGen Ensembl |
|
|
rs1260711454 CA361976585 |
917 | P>L | No |
ClinGen gnomAD |
|
|
CA3534113 rs773991920 |
917 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA361976607 rs1193289827 |
920 | I>V | No |
ClinGen gnomAD |
|
|
rs771916686 CA3534115 |
921 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA361976627 rs1480245320 |
922 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361976625 rs1480245320 |
922 | Y>S | No |
ClinGen gnomAD |
|
|
CA361976633 rs1414440150 |
923 | S>N | No |
ClinGen gnomAD |
|
|
CA361976651 rs1208018065 |
925 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1325752383 CA361976649 |
925 | I>V | No |
ClinGen TOPMed |
|
|
rs780090044 CA130156821 |
928 | S>F | No |
ClinGen Ensembl |
|
|
CA130156831 rs954520587 |
929 | Y>H | No |
ClinGen Ensembl |
|
|
rs867293635 CA130156857 |
930 | R>K | No |
ClinGen Ensembl |
|
| TCGA novel | 932 | F>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753859417 CA361976715 |
933 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3534119 rs753859417 |
933 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA361976731 rs1343373167 |
935 | P>S | No |
ClinGen gnomAD |
|
|
CA361976742 rs1404072621 |
936 | P>L | No |
ClinGen gnomAD |
|
|
CA361976741 rs1177593362 |
936 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 938 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs9313557 CA3534121 |
941 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1375048757 CA361976797 |
942 | C>F | No |
ClinGen gnomAD |
|
|
rs781455496 CA3534124 |
946 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs770403640 CA3534129 |
960 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs778281246 CA3534130 |
963 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs778281246 CA3534131 |
963 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA361977160 rs1407889712 |
966 | Q>R | No |
ClinGen gnomAD |
|
|
CA361977197 rs1349235758 |
969 | I>V | No |
ClinGen TOPMed |
|
|
rs1231557512 CA361977300 |
977 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 978 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA130157521 rs867900382 |
981 | P>H | No |
ClinGen Ensembl |
|
|
rs1381279833 CA361977421 |
986 | L>F | No |
ClinGen TOPMed |
|
|
rs1337845533 CA361977435 |
988 | R>* | No |
ClinGen TOPMed |
|
| TCGA novel | 994 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1315592512 CA361977625 |
995 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 995 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1159794405 CA361977628 |
996 | I>V | No |
ClinGen gnomAD |
|
|
rs769664920 CA3534175 |
1003 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs377125065 CA3534178 |
1011 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361977793 rs1241280030 |
1015 | T>I | No |
ClinGen gnomAD |
|
|
CA130158377 rs996091939 |
1017 | V>M | No |
ClinGen gnomAD |
|
|
CA130158384 rs927671349 |
1023 | E>A | No |
ClinGen TOPMed |
|
|
rs1292365985 CA361977850 |
1024 | V>M | No |
ClinGen gnomAD |
|
|
rs762034251 CA3534183 |
1031 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1581141802 CA361978026 |
1037 | A>G | No |
ClinGen Ensembl |
|
|
rs1402096503 CA361980694 |
1040 | Q>R | No |
ClinGen TOPMed |
|
|
CA361980749 rs1333721993 |
1044 | C>G | No |
ClinGen TOPMed |
|
|
CA3534231 rs753824205 |
1050 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs753824205 CA3534230 |
1050 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs760142049 CA3534232 |
1052 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs753510856 CA3534234 |
1055 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs756987284 CA3534235 |
1061 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA361980978 rs1382834588 |
1061 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 1064 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3534251 rs763607353 |
1066 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs368529367 CA130177353 |
1066 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368529367 CA3534252 |
1066 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1275459874 CA361981120 |
1067 | L>P | No |
ClinGen gnomAD |
|
|
rs764928113 CA3534254 |
1070 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs371277463 CA3534255 |
1071 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs374707103 CA3534256 |
1073 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1186884501 CA361981256 |
1078 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA361981273 rs1421214095 |
1079 | A>D | No |
ClinGen gnomAD |
|
|
rs756207677 CA3534259 |
1080 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3534263 rs779041559 |
1083 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs780552029 CA3534266 |
1084 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA130177384 rs747475869 |
1087 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769218609 CA3534268 |
1088 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3534269 rs776107230 |
1089 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361981385 rs1456995793 |
1089 | R>W | No |
ClinGen TOPMed |
|
|
CA130177396 rs866764350 |
1092 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 1094 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769406851 CA361981437 |
1094 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs769406851 CA3534271 |
1094 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA130181476 rs747174438 |
1095 | Q>E | No |
ClinGen Ensembl |
|
|
rs764150455 CA3534316 |
1096 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs763134967 CA3534318 |
1097 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3534319 rs766472184 |
1098 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420701830 CA361981892 |
1099 | A>T | No |
ClinGen TOPMed |
|
|
CA130181487 rs868315333 |
1100 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3534321 rs755280890 |
1101 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1340812030 CA361981967 |
1106 | T>S | No |
ClinGen gnomAD |
|
|
CA361981997 rs1581210153 |
1111 | C>G | No |
ClinGen Ensembl |
|
|
rs753130386 CA3534323 |
1113 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1205335914 CA361982027 |
1116 | M>V | No |
ClinGen gnomAD |
|
|
CA361982036 rs1225594310 |
1117 | F>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1118 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3534325 rs778379924 |
1118 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1119 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361982056 rs1581210202 |
1119 | V>G | No |
ClinGen Ensembl |
|
|
CA361982072 rs1176749642 |
1122 | T>N | No |
ClinGen gnomAD |
|
|
CA361982077 rs1237477468 |
1123 | R>G | No |
ClinGen gnomAD |
|
|
rs748704223 CA3534326 |
1123 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1124 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756811832 CA3534327 |
1124 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs745519217 CA3534329 |
1125 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3534328 rs778648138 |
1125 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA361982130 rs1401899928 |
1131 | P>R | No |
ClinGen gnomAD |
|
|
CA361982132 rs1463586912 |
1132 | I>L | No |
ClinGen gnomAD |
|
|
rs200428535 CA3534332 |
1134 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3534331 rs775411830 |
1134 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3534333 rs374666951 |
1135 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs776663646 CA3534334 |
1136 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs771013880 CA3534336 |
1137 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3534335 rs562843766 |
1137 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA361982181 rs1446711858 |
1140 | N>S | No |
ClinGen TOPMed |
|
|
rs764457342 CA3534342 |
1142 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3534344 rs756653541 |
1143 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA361982210 rs1472327478 |
1144 | H>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1145 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3534345 rs577190281 |
1145 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758101660 CA3534347 |
1146 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs758101660 CA130181559 |
1146 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs779892555 CA3534348 |
1148 | C>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1151 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768520032 CA3534351 |
1153 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs768520032 CA3534350 |
1153 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3534349 rs376484231 |
1153 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1154 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199945789 CA3534353 |
1155 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs201475685 CA130181591 |
1156 | S>G | No |
ClinGen gnomAD |
|
|
rs369611074 CA3534355 |
1157 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA3534356 rs772237862 |
1160 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA361982319 rs1345675109 |
1161 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA3534359 rs148677157 |
1163 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361982359 rs1217061527 |
1167 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1206531195 CA361982394 |
1171 | F>L | No |
ClinGen TOPMed |
|
|
CA361982639 rs1332750198 |
1176 | C>Y | No |
ClinGen TOPMed |
|
|
CA361982652 rs1399075744 |
1178 | G>S | No |
ClinGen TOPMed |
|
|
rs1457798273 CA361982677 |
1181 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3534394 rs556174999 |
1189 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361982756 rs1370434216 |
1190 | V>D | No |
ClinGen gnomAD |
|
| TCGA novel | 1192 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA130182387 CA130182384 rs865852628 |
1194 | Q>H | No |
ClinGen Ensembl |
|
|
rs757246607 CA3534396 |
1195 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs895624559 CA130182393 |
1196 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs780179999 CA3534397 |
1196 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747100012 CA3534398 |
1197 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA361982834 rs1445791014 |
1197 | R>H | No |
ClinGen gnomAD |
|
|
CA361982832 rs1445791014 |
1197 | R>P | No |
ClinGen gnomAD |
|
|
rs1313098894 CA361982863 |
1199 | D>A | No |
ClinGen gnomAD |
|
|
CA3534400 rs535422654 |
1200 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1209059748 CA361982892 |
1202 | D>N | No |
ClinGen TOPMed |
|
|
rs1201414786 CA361982965 |
1207 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs867787148 CA130182440 |
1210 | V>L | No |
ClinGen Ensembl |
|
| TCGA novel | 1211 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361983015 rs1581213968 |
1211 | Q>R | No |
ClinGen Ensembl |
|
|
CA361983070 rs1424598314 |
1215 | G>R | No |
ClinGen gnomAD |
|
|
rs1478843898 CA361983139 |
1219 | I>T | No |
ClinGen gnomAD |
|
|
rs1379295281 CA361983308 |
1224 | P>A | No |
ClinGen gnomAD |
|
|
rs770197583 CA3534420 |
1228 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3534422 rs749706783 |
1230 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3534423 rs771443874 |
1231 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1295933020 CA361983423 |
1232 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1233 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1243 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361983655 rs1561796993 |
1247 | N>S | No |
ClinGen Ensembl |
|
|
rs1304050175 CA361983674 |
1249 | Y>H | No |
ClinGen gnomAD |
|
|
CA130183461 rs987772341 |
1250 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs759023322 CA3534425 |
1251 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1162322780 CA361983698 |
1252 | S>A | No |
ClinGen TOPMed |
|
|
rs766552634 CA130183483 |
1253 | V>M | No |
ClinGen TOPMed |
|
|
rs1356256314 CA361983720 |
1255 | T>I | No |
ClinGen gnomAD |
|
|
CA3534428 rs760318555 |
1256 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs182717318 CA130183488 |
1256 | D>G | No |
ClinGen 1000Genomes |
|
|
rs370184404 CA3534429 |
1258 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370184404 CA130183497 |
1258 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3534430 rs753609617 |
1259 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs952468007 CA130183502 |
1262 | H>D | No |
ClinGen TOPMed |
|
|
rs765181549 CA3534432 |
1262 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs371399881 CA3534433 |
1264 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3534434 rs201882855 |
1264 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA130183518 rs754090399 |
1268 | P>T | No |
ClinGen Ensembl |
|
|
rs778186111 CA3534438 |
1272 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA361983842 rs1366154620 |
1274 | L>F | No |
ClinGen gnomAD |
|
|
rs749612146 CA3534439 |
1277 | T>N | No |
ClinGen ExAC |
|
| rs1440870902 | 1279 | C>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
1 associated diseases with Q96F07
[MIM: 618008]: Developmental and epileptic encephalopathy 65 (DEE65)
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE65 is an autosomal dominant form characterized by onset of intractable seizures usually in the first 6 months of life and severe to profound psychomotor developmental delay. {ECO:0000269|PubMed:29534297}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE65 is an autosomal dominant form characterized by onset of intractable seizures usually in the first 6 months of life and severe to profound psychomotor developmental delay. {ECO:0000269|PubMed:29534297}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q96F07
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | CYRIA/CYRIB, Rac1 binding domain | 64 - 274 | IPR009828 |
Functions
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| small GTPase binding | Binding to a small monomeric GTPase. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of cysteine-type endopeptidase activity | Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase. |
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| cell morphogenesis | The developmental process in which the size or shape of a cell is generated and organized. |
| cell-cell adhesion | The attachment of one cell to another cell via adhesion molecules. |
| dendrite extension | Long distance growth of a single dendrite involved in cellular development. |
| positive regulation of neurotrophin TRK receptor signaling pathway | Any process that activates or increases the frequency, rate or extent of the neurotrophin TRK receptor signaling pathway. |
| positive regulation of proteolysis | Any process that activates or increases the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein. |
| regulation of actin filament polymerization | Any process that modulates the frequency, rate or extent of the assembly of actin filaments by the addition of actin monomers to a filament. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5SQX6 | Cyfip2 | Cytoplasmic FMR1-interacting protein 2 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTTHVTLEDA | LSNVDLLEEL | PLPDQQPCIE | PPPSSIMYQA | NFDTNFEDRN | AFVTGIARYI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EQATVHSSMN | EMLEEGHEYA | VMLYTWRSCS | RAIPQVKCNE | QPNRVEIYEK | TVEVLEPEVT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KLMKFMYFQR | KAIERFCSEV | KRLCHAERRK | DFVSEAYLLT | LGKFINMFAV | LDELKNMKCS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VKNDHSAYKR | AAQFLRKMAD | PQSIQESQNL | SMFLANHNRI | TQCLHQQLEV | IPGYEELLAD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IVNICVDYYE | NKMYLTPSEK | HMLLKVMGFG | LYLMDGNVSN | IYKLDAKKRI | NLSKIDKFFK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QLQVVPLFGD | MQIELARYIK | TSAHYEENKS | KWTCTQSSIS | PQYNICEQMV | QIRDDHIRFI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SELARYSNSE | VVTGSGLDSQ | KSDEEYRELF | DLALRGLQLL | SKWSAHVMEV | YSWKLVHPTD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KFCNKDCPGT | AEEYERATRY | NYTSEEKFAF | VEVIAMIKGL | QVLMGRMESV | FNQAIRNTIY |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AALQDFAQVT | LREPLRQAVR | KKKNVLISVL | QAIRKTICDW | EGGREPPNDP | CLRGEKDPKG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GFDIKVPRRA | VGPSSTQACQ | WSPRALFHPT | GGTQGRRGCR | SLLYMVRTML | ESLIADKSGS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KKTLRSSLDG | PIVLAIEDFH | KQSFFFTHLL | NISEALQQCC | DLSQLWFREF | FLELTMGRRI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| QFPIEMSMPW | ILTDHILETK | EPSMMEYVLY | PLDLYNDSAY | YALTKFKKQF | LYDEIEAEVN |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LCFDQFVYKL | ADQIFAYYKA | MAGSVLLDKR | FRAECKNYGV | IIPYPPSNRY | ETLLKQRHVQ |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LLGRSIDLNR | LITQRISAAM | YKSLDQAISR | FESEDLTSIV | ELEWLLEINR | LTHRLLCKHM |
| 850 | 860 | 870 | 880 | 890 | 900 |
| TLDSFDAMFR | EANHNVSAPY | GRITLHVFWE | LNFDFLPNYC | YNGSTNRFVR | TAIPFTQEPQ |
| 910 | 920 | 930 | 940 | 950 | 960 |
| RDKPANVQPY | YLYGSKPLNI | AYSHIYSSYR | NFVGPPHFKT | ICRLLGYQGI | AVVMEELLKI |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| VKSLLQGTIL | QYVKTLIEVM | PKICRLPRHE | YGSPGILEFF | HHQLKDIIEY | AELKTDVFQS |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| LREVGNAILF | CLLIEQALSQ | EEVCDLLHAA | PFQNILPRVY | IKEGERLEVR | MKRLEAKYAP |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| LHLVPLIERL | GTPQQIAIAR | EGDLLTKERL | CCGLSMFEVI | LTRIRSYLQD | PIWRGPPPTN |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| GVMHVDECVE | FHRLWSAMQF | VYCIPVGTNE | FTAEQCFGDG | LNWAGCSIIV | LLGQQRRFDL |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| FDFCYHLLKV | QRQDGKDEII | KNVPLKKMAD | RIRKYQILNN | EVFAILNKYM | KSVETDSSTV |
| 1270 | |||||
| EHVRCFQPPI | HQSLATTC |