Q8IYJ3
PR
Gene name |
SYTL1 (SLP1, SB146) |
Protein name |
Synaptotagmin-like protein 1 |
Names |
Exophilin-7, Protein JFC1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84958 |
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 Q8IYJ3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8IYJ3-F1 | Predicted | AlphaFoldDB |
508 variants for Q8IYJ3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA339198224 rs1400576871 |
3 | Q>* | No |
ClinGen gnomAD |
|
|
CA339198237 rs1236535828 |
4 | R>G | No |
ClinGen TOPMed |
|
|
rs1343504394 CA339198294 |
7 | P>L | No |
ClinGen gnomAD |
|
|
CA19857968 rs763440908 |
8 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA712298 rs763440908 |
8 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763440908 CA339198308 |
8 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751707916 CA712300 |
10 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466237507 CA339198368 |
11 | G>E | No |
ClinGen TOPMed |
|
|
rs755266417 CA712303 |
13 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1265991386 CA339198474 |
17 | S>C | No |
ClinGen gnomAD |
|
|
CA339198483 rs1479704140 |
18 | L>P | No |
ClinGen gnomAD |
|
|
CA19857984 rs540627761 |
18 | L>V | No |
ClinGen Ensembl |
|
|
rs1425193841 CA339198503 |
19 | P>L | No |
ClinGen gnomAD |
|
|
rs1434592255 CA339198525 |
20 | M>I | No |
ClinGen gnomAD |
|
|
rs1303643513 CA339198508 |
20 | M>L | No |
ClinGen TOPMed |
|
|
rs1303643513 CA339198510 |
20 | M>V | No |
ClinGen TOPMed |
|
|
rs149712123 CA712307 |
21 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA712306 rs149712123 |
21 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA19857998 rs867227078 |
24 | P>L | No |
ClinGen Ensembl |
|
|
CA712309 rs547689674 |
27 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA712310 rs758215855 |
29 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218720201 CA339198714 |
30 | G>R | No |
ClinGen TOPMed |
|
|
rs1557537417 CA339198734 |
31 | L>V | No |
ClinGen Ensembl |
|
|
rs779951868 CA712312 |
33 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA339198816 rs1293066323 |
35 | S>G | No |
ClinGen gnomAD |
|
|
CA339198894 rs1353181828 |
38 | T>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 40 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1487852807 CA339198993 |
44 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs925798865 CA19858022 |
45 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs537376314 CA712314 |
48 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA19858027 rs867612994 |
50 | Q>K | No |
ClinGen Ensembl |
|
|
rs775991755 CA712315 |
51 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA712316 rs747676266 |
51 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339199124 rs747676266 |
51 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339199140 rs1174915883 |
52 | D>A | No |
ClinGen gnomAD |
|
|
CA339199176 rs1379309932 |
53 | A>V | No |
ClinGen gnomAD |
|
|
rs757392446 CA712317 |
54 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA712318 rs757392446 |
54 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA712319 rs139274374 |
54 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339199188 rs139274374 |
54 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 54 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs991657043 CA19858047 |
56 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA712320 rs766620351 |
56 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 60 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1300370889 CA339199281 |
60 | E>Q | No |
ClinGen TOPMed |
|
|
rs1341504055 CA339199314 |
61 | G>E | No |
ClinGen TOPMed |
|
|
CA712321 rs774842153 |
61 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs1447727999 CA339199337 |
62 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
COSM1341482 COSM1341481 rs140755424 CA712323 |
62 | R>W | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA339199358 rs1571030395 |
63 | V>G | No |
ClinGen Ensembl |
|
|
rs762786293 CA712345 |
67 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA712344 rs753987007 |
67 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339200319 rs1557539325 |
69 | S>P | No |
ClinGen Ensembl |
|
|
rs1400378070 CA339200349 |
71 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA339200370 rs1571034304 |
72 | D>G | No |
ClinGen Ensembl |
|
|
rs1335337128 CA339200387 |
73 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA712347 rs751247714 |
74 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 74 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339200419 rs1462835713 |
75 | Q>L | No |
ClinGen TOPMed |
|
|
CA712350 rs752366338 |
80 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA712354 rs369805137 |
85 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA712353 rs369805137 |
85 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA712355 rs771273783 |
88 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339200623 rs771273783 |
88 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370669352 CA712356 |
88 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA712357 rs746172711 |
89 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs772463765 CA712358 |
91 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19859204 rs767919219 |
91 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA712359 rs138566650 |
95 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760886734 CA712360 |
97 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA712362 rs776634273 |
98 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA712363 rs776634273 |
98 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373705543 CA712364 |
99 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339200800 rs373705543 |
99 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199945920 CA19859282 |
100 | D>N | No |
ClinGen Ensembl |
|
|
rs1421711514 CA339200837 |
101 | L>P | No |
ClinGen TOPMed |
|
|
CA712366 rs759430700 |
103 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs528890601 CA712367 |
103 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150662670 CA712368 |
104 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA19859296 rs946940670 |
106 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA339200900 rs1314022146 |
106 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA339200891 rs946940670 |
106 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA712371 rs200155577 |
107 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149429958 CA712372 |
107 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA712370 rs200155577 |
107 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199645658 CA19859305 |
108 | R>K | No |
ClinGen 1000Genomes |
|
|
CA339200967 rs1286655251 |
110 | K>T | No |
ClinGen TOPMed |
|
|
rs1489260510 CA339201015 |
113 | R>K | No |
ClinGen gnomAD |
|
|
rs746357120 CA712376 |
113 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA712377 rs758975524 |
114 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA712400 rs769967340 |
115 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339201121 rs1557540036 |
115 | D>V | No |
ClinGen Ensembl |
|
|
CA339201163 rs1395269761 |
118 | P>S | No |
ClinGen TOPMed |
|
|
CA712402 rs749329787 |
119 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147251579 CA19859444 |
120 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA712404 rs772090601 |
120 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA712406 rs191472571 |
121 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA712407 rs763953729 |
123 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA712408 rs776359340 |
124 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs761518630 CA712410 |
125 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs760860885 | 125 | E>V | No |
ExAC gnomAD |
|
|
rs202135642 CA19859472 |
126 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA712411 rs202135642 |
126 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 127 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375355898 CA712413 |
128 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1485540676 CA339201319 |
128 | V>M | No |
ClinGen TOPMed |
|
|
CA339201412 rs1420914482 |
133 | E>* | No |
ClinGen gnomAD |
|
|
rs757935917 CA339201421 |
133 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1477219542 CA339201416 |
133 | E>G | No |
ClinGen gnomAD |
|
|
CA339201426 rs1402063522 |
134 | G>R | No |
ClinGen gnomAD |
|
|
CA712417 rs142369900 |
136 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA712416 rs766824243 |
136 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755544377 CA712418 |
137 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs781606354 CA712419 |
138 | R>K | No |
ClinGen ExAC |
|
| TCGA novel | 139 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1296043456 CA339201531 |
139 | L>P | No |
ClinGen gnomAD |
|
|
CA339201545 rs1400479939 |
140 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs201763781 CA712429 |
141 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769448227 CA712430 |
143 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA339201607 rs1347610239 |
145 | P>S | No |
ClinGen TOPMed |
|
|
CA712431 rs772762976 |
149 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19859579 rs371386129 |
152 | T>I | No |
ClinGen ESP TOPMed |
|
|
CA712432 rs762644265 |
153 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762644265 CA339201746 |
153 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA712454 rs768015355 |
156 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA339202748 rs1490201363 |
159 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs372262608 CA712455 |
160 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs950912842 CA19860291 |
160 | P>S | No |
ClinGen Ensembl |
|
|
CA19860292 rs17851332 |
162 | V>A | No |
ClinGen Ensembl |
|
|
rs1267952221 CA339202771 |
162 | V>L | No |
ClinGen gnomAD |
|
|
rs765565072 CA712460 |
169 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1016504679 CA19860321 |
171 | E>* | No |
ClinGen Ensembl |
|
|
rs750491261 CA712461 |
171 | E>A | No |
ClinGen ExAC |
|
|
CA712462 rs758431633 |
172 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA339202890 rs1179310735 |
173 | S>F | No |
ClinGen gnomAD |
|
|
rs1329543016 CA339202902 |
174 | Q>L | No |
ClinGen gnomAD |
|
|
CA19860355 rs921898345 |
175 | A>P | No |
ClinGen Ensembl |
|
| TCGA novel | 176 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1399753416 CA339202929 |
177 | E>Q | No |
ClinGen gnomAD |
|
|
rs1340875288 CA339203023 |
180 | G>D | No |
ClinGen TOPMed |
|
|
CA339203035 rs1377825966 |
181 | Q>R | No |
ClinGen gnomAD |
|
|
rs1297089853 CA339203085 |
185 | Q>L | No |
ClinGen gnomAD |
|
|
CA339203093 rs1326506735 |
186 | V>D | No |
ClinGen gnomAD |
|
|
CA712488 rs550703240 |
187 | C>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA712489 rs771817961 |
189 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339203124 rs1219615452 |
190 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1282134772 CA339203135 |
191 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1255502865 CA339203148 |
193 | P>R | No |
ClinGen TOPMed |
|
|
rs996351356 CA19860573 |
193 | P>S | No |
ClinGen gnomAD |
|
|
rs996351356 CA339203146 |
193 | P>T | No |
ClinGen gnomAD |
|
|
rs746536870 CA712491 |
195 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19860579 rs536350068 |
195 | L>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1174714600 CA339203179 |
198 | A>E | No |
ClinGen gnomAD |
|
|
rs1571039472 CA339203176 |
198 | A>T | No |
ClinGen Ensembl |
|
|
COSM1193570 CA339203187 rs1489397989 COSM1193571 |
199 | S>L | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs201651642 CA712496 CA712495 |
200 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339203189 rs1386237114 |
200 | G>V | No |
ClinGen gnomAD |
|
|
rs201651642 CA712494 |
200 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1401939186 CA339203191 |
201 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs763026185 CA712497 |
201 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339203199 rs1433862115 |
202 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 202 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs946743476 CA19860599 |
202 | E>Q | No |
ClinGen TOPMed |
|
|
rs567054850 CA19860606 |
204 | E>K | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1441154654 CA339203223 |
205 | P>L | No |
ClinGen gnomAD |
|
|
rs905143909 CA19860609 |
207 | P>H | No |
ClinGen TOPMed |
|
|
CA339203240 rs1557542365 |
208 | Q>H | No |
ClinGen Ensembl |
|
|
rs1374375054 CA339203244 |
209 | Q>* | No |
ClinGen gnomAD |
|
|
CA712498 rs766626881 |
209 | Q>H | No |
ClinGen ExAC |
|
|
CA19860619 rs751552346 |
211 | Q>* | No |
ClinGen ExAC TOPMed |
|
|
CA712499 rs751552346 |
211 | Q>E | No |
ClinGen ExAC TOPMed |
|
|
CA339203258 rs1300456805 |
211 | Q>L | No |
ClinGen TOPMed |
|
|
rs540312341 CA712519 |
213 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339203286 rs1257471570 |
214 | A>T | No |
ClinGen gnomAD |
|
|
rs1486257352 CA339203291 |
214 | A>V | No |
ClinGen gnomAD |
|
|
CA339203292 rs1189507768 |
215 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA339203294 rs1189507768 |
215 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs752830018 CA712521 |
218 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs761683663 CA712522 |
219 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339203328 rs1416518189 |
220 | E>D | No |
ClinGen gnomAD |
|
|
rs1376011298 CA339203324 |
220 | E>K | No |
ClinGen gnomAD |
|
|
CA712523 rs376618710 |
221 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA712524 rs750145216 |
223 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA712526 rs758235627 |
225 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA19860782 rs779766613 |
226 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA712527 rs779766613 |
226 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140349827 CA712530 |
229 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339203396 rs770381618 |
231 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA712532 rs770381618 |
231 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA712534 rs749804940 |
233 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339203403 rs749804940 |
233 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339203410 rs1263442392 |
234 | R>S | No |
ClinGen gnomAD |
|
|
rs771294953 CA712536 |
235 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1431041687 CA339203421 |
235 | M>R | No |
ClinGen gnomAD |
|
|
CA19860856 rs370701803 |
237 | S>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs774644374 CA712537 |
239 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA19860861 rs979432384 |
241 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA712538 rs759739911 |
242 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162215208 CA339203481 |
244 | S>R | No |
ClinGen TOPMed |
|
|
rs1303220386 CA339203478 |
244 | S>T | No |
ClinGen gnomAD |
|
|
rs926514764 CA19860872 |
245 | L>F | No |
ClinGen TOPMed |
|
|
CA712540 rs775483784 |
245 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1215907508 CA339203510 |
248 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA712543 rs765036202 |
248 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA339203508 rs1215907508 |
248 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1056186263 CA19860884 |
249 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA339203512 rs1487322926 |
249 | T>P | No |
ClinGen gnomAD |
|
|
CA339203567 rs1272634277 |
250 | L>R | No |
ClinGen TOPMed |
|
|
rs1326712420 CA339203590 |
252 | G>S | No |
ClinGen gnomAD |
|
|
rs1301059728 CA339203624 |
254 | Q>H | No |
ClinGen gnomAD |
|
|
rs776717687 CA712580 |
255 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748183402 CA19861063 |
256 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs968552873 CA19861072 |
257 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1203489061 CA339203664 |
258 | S>L | No |
ClinGen gnomAD |
|
|
CA339203675 rs1196584083 |
259 | G>A | No |
ClinGen TOPMed |
|
|
CA19861075 rs979378434 |
259 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1283622686 CA339203699 |
261 | A>V | No |
ClinGen gnomAD |
|
|
rs770851020 CA712582 |
262 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA339203703 rs1218195047 |
262 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs774405748 CA712583 |
263 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774405748 CA712584 |
263 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339203742 rs1298844758 |
265 | Q>R | No |
ClinGen gnomAD |
|
|
rs1469037363 CA339203754 |
266 | V>G | No |
ClinGen gnomAD |
|
|
CA712588 rs763655530 |
270 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA712589 rs753350503 |
272 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA339203837 rs1361117328 |
273 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA339203843 rs1333957181 |
274 | L>Q | No |
ClinGen gnomAD |
|
|
CA19861095 rs917850386 |
276 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1279098341 CA339203870 |
277 | E>K | No |
ClinGen gnomAD |
|
|
rs1366734897 CA339203890 |
278 | P>R | No |
ClinGen gnomAD |
|
|
CA339203904 rs1302956518 |
280 | A>T | No |
ClinGen gnomAD |
|
|
rs1468167491 CA339203914 |
281 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM229861 rs1468167491 CA339203912 |
281 | A>T | NS [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA339203947 rs1436641917 |
284 | R>S | No |
ClinGen gnomAD |
|
|
CA339203962 rs1364817935 |
285 | V>M | No |
ClinGen gnomAD |
|
|
CA339203975 rs1571042208 |
286 | H>R | No |
ClinGen Ensembl |
|
|
rs1346882249 CA339203982 |
287 | V>M | No |
ClinGen TOPMed |
|
|
rs1404977626 CA339204022 |
290 | C>G | No |
ClinGen TOPMed |
|
|
CA712593 rs758975486 |
291 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339204039 rs1350995583 |
291 | Q>R | No |
ClinGen gnomAD |
|
|
CA339204078 rs887510487 |
295 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA19861115 rs887510487 |
295 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA712594 rs780387116 |
296 | A>T | No |
ClinGen ExAC |
|
|
CA19861121 rs941761626 |
297 | R>P | No |
ClinGen TOPMed |
|
|
rs1390547610 CA339204097 |
298 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs751886441 CA712595 |
298 | R>S | No |
ClinGen ExAC |
|
|
rs1270893400 CA339204100 |
299 | R>S | No |
ClinGen TOPMed |
|
|
CA339204109 rs1329462772 |
300 | R>H | No |
ClinGen gnomAD |
|
|
CA339204118 rs1571042384 |
301 | S>* | No |
ClinGen Ensembl |
|
|
CA712596 rs755163987 |
301 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411770358 CA339204139 |
303 | P>L | No |
ClinGen gnomAD |
|
|
CA339204191 rs1557544486 |
305 | V>I | No |
ClinGen Ensembl |
|
|
rs753117601 CA712633 |
306 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs756338148 CA712634 |
307 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs764440223 CA712635 |
308 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA712636 rs753918749 |
309 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA339204261 rs1438975750 |
311 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 312 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA712639 rs746916119 |
313 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1289657484 CA339204282 |
314 | Q>K | No |
ClinGen gnomAD |
|
|
rs780796595 CA712641 |
315 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA712642 rs376143341 COSM267541 |
317 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed |
| TCGA novel | 317 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769398605 CA712643 |
318 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339204346 rs1571043459 |
319 | T>M | No |
ClinGen Ensembl |
|
|
CA712646 rs770339907 |
320 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA339204364 rs1571043485 |
321 | V>G | No |
ClinGen Ensembl |
|
|
rs759898985 CA712648 |
323 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19861353 rs761181092 |
324 | R>P | No |
ClinGen ExAC gnomAD |
|
|
COSM265543 CA712650 rs761181092 |
324 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA712649 rs768072565 |
324 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1051883785 CA19861358 |
325 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA712652 rs764603765 |
328 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA712653 rs754083402 |
330 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19861375 rs904012775 |
331 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA712654 rs757619559 |
332 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs765219819 CA19861405 |
333 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765219819 CA712655 |
333 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs750533684 | 335 | R>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA19861409 rs1042345533 |
335 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1479149389 CA339204502 |
335 | R>W | No |
ClinGen TOPMed |
|
|
CA339204544 rs1347003996 |
336 | Y>C | No |
ClinGen gnomAD |
|
|
rs1347003996 CA339204542 |
336 | Y>S | No |
ClinGen gnomAD |
|
|
CA339204555 rs1234299473 |
337 | S>F | No |
ClinGen TOPMed |
|
|
CA339204552 rs1210327660 |
337 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1181131914 CA339204566 |
338 | V>A | No |
ClinGen TOPMed |
|
|
rs569235147 CA19861545 |
339 | P>L | No |
ClinGen gnomAD |
|
|
rs569235147 CA339204575 |
339 | P>R | No |
ClinGen gnomAD |
|
|
CA712672 rs761885072 |
339 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1055239075 CA19861552 |
340 | Q>H | No |
ClinGen TOPMed |
|
|
CA712673 rs765504750 |
341 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA712675 rs763118718 |
342 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1454194414 CA339204607 |
343 | L>F | No |
ClinGen gnomAD |
|
|
rs1446389377 CA339204617 |
344 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs564928774 CA712676 |
344 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777482526 CA712679 |
346 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA712680 rs753631898 |
346 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA339204642 rs753631898 |
346 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs756819183 CA712681 |
347 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 349 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745555051 CA712683 |
349 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1283863709 CA339204709 |
353 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs747505196 CA712687 |
353 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs1447570982 CA339204717 |
354 | H>Y | No |
ClinGen TOPMed |
|
|
CA712688 rs769300012 |
355 | R>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 355 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339204752 rs1251516079 |
357 | S>T | No |
ClinGen gnomAD |
|
|
COSM1748317 COSM1748318 CA712690 rs762272733 |
358 | L>V | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 359 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs895195414 CA19861663 |
359 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1385352081 CA339204775 |
360 | R>C | No |
ClinGen TOPMed |
|
|
rs769862420 CA712691 |
360 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1157428640 CA339204790 |
361 | N>H | No |
ClinGen gnomAD |
|
|
COSM1341486 CA712692 COSM1341485 rs773464496 |
361 | N>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1162612672 CA339204852 |
365 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA712695 rs751647804 |
366 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs187197622 CA712694 |
366 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA19861673 rs760535309 |
367 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760535309 CA712696 |
367 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372863334 CA712697 |
369 | V>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339204917 rs1379238910 |
370 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA712698 rs753580929 |
372 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA339204951 rs1571045062 |
373 | T>A | No |
ClinGen Ensembl |
|
|
rs368344700 CA712699 |
373 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs368344700 CA19861712 |
373 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1462458008 CA339204963 |
374 | W>* | No |
ClinGen TOPMed |
|
|
CA339204960 rs1230445301 |
374 | W>* | No |
ClinGen gnomAD |
|
|
CA339204973 rs1271441288 |
375 | D>A | No |
ClinGen gnomAD |
|
|
rs1334612564 CA339204981 |
376 | W>G | No |
ClinGen gnomAD |
|
|
CA712700 rs544503560 |
377 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs113120872 CA712701 |
377 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1016584312 CA19861715 |
378 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs147249215 CA712702 |
379 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1571045222 CA339205044 |
381 | T>P | No |
ClinGen Ensembl |
|
|
CA19861721 rs1054721705 |
383 | L>F | No |
ClinGen Ensembl |
|
|
CA339205077 rs1416628315 |
384 | P>T | No |
ClinGen gnomAD |
|
|
CA339205094 rs1199605862 |
386 | Q>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 388 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557545908 CA339205513 |
389 | V>D | No |
ClinGen Ensembl |
|
|
rs749644010 CA712729 |
389 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA712731 rs771091456 |
390 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA339205564 rs1171929783 |
394 | D>E | No |
ClinGen gnomAD |
|
|
CA339205570 rs1377128689 |
395 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA339205569 rs1377128689 |
395 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs746128658 CA712733 |
396 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1304816934 CA339205585 |
396 | L>P | No |
ClinGen gnomAD |
|
|
rs1434855409 CA339205590 |
397 | P>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 397 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1434855409 CA339205592 |
397 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs967171317 CA19861946 |
398 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1439324667 CA339205613 |
399 | R>C | No |
ClinGen gnomAD |
|
|
rs1312269103 CA339205624 |
400 | G>E | No |
ClinGen gnomAD |
|
|
CA339205620 rs867895179 |
400 | G>R | No |
ClinGen gnomAD |
|
|
rs867895179 CA19861953 |
400 | G>W | No |
ClinGen gnomAD |
|
|
rs1258602281 CA339205636 |
401 | L>F | No |
ClinGen gnomAD |
|
|
CA339205647 rs1209163768 |
403 | A>T | No |
ClinGen gnomAD |
|
|
rs1190566183 CA339205668 |
405 | S>F | No |
ClinGen gnomAD |
|
|
rs925628833 CA19861962 |
406 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA339205685 rs1362330903 |
407 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA339205684 rs1362330903 |
407 | K>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 408 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765093133 CA712737 |
409 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs182454567 CA712739 |
411 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA19861981 rs867004935 |
411 | A>T | No |
ClinGen gnomAD |
|
|
CA339205736 rs377305922 |
412 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377305922 CA712740 |
412 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1388055770 CA339205730 |
412 | G>S | No |
ClinGen gnomAD |
|
|
rs377305922 CA339205735 |
412 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751229854 CA712741 |
414 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1349564790 CA339205748 |
414 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA712753 rs559892909 |
415 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339205761 rs1381684420 |
415 | G>S | No |
ClinGen TOPMed |
|
|
rs747091675 CA339205797 |
416 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA712754 rs747091675 |
416 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 419 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA19862081 rs781455391 |
419 | P>S | No |
ClinGen Ensembl |
|
|
rs1181708145 CA339205832 |
420 | P>A | No |
ClinGen gnomAD |
|
|
CA339205858 rs1167271622 |
422 | G>E | No |
ClinGen gnomAD |
|
|
CA339205850 rs1425868024 |
422 | G>R | No |
ClinGen gnomAD |
|
|
rs1309292984 CA339205878 |
424 | L>P | No |
ClinGen gnomAD |
|
|
rs1259091045 CA339205916 |
428 | V>M | No |
ClinGen TOPMed |
|
|
rs916093903 CA19862110 |
432 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA712755 rs769725131 |
432 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19862114 rs947166073 |
433 | D>A | No |
ClinGen Ensembl |
|
|
rs1381077151 CA339205980 |
433 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA339205987 rs763028028 |
434 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA712756 rs532266052 |
434 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA712757 rs763028028 |
434 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 436 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1032760636 CA19862123 |
437 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1171697042 CA339206021 |
438 | R>L | No |
ClinGen gnomAD |
|
|
CA339206018 rs1171697042 |
438 | R>Q | No |
ClinGen gnomAD |
|
|
rs1287007666 CA339206016 |
438 | R>W | No |
ClinGen TOPMed |
|
|
CA339206028 rs1229275894 |
439 | A>V | No |
ClinGen gnomAD |
|
|
CA712760 rs141264332 |
441 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141264332 CA712759 |
441 | S>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1209696952 CA339206052 |
442 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA339206060 rs1484462534 |
443 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1359322395 CA339206072 |
444 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA734570397 rs1214300737 |
445 | Y>* | No |
ClinGen TOPMed |
|
|
CA339206081 rs1390161243 |
445 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1450605410 CA339206084 |
446 | V>L | No |
ClinGen gnomAD |
|
|
CA339206537 rs1267681247 |
448 | C>* | No |
ClinGen gnomAD |
|
|
CA339206109 rs1170014323 |
448 | C>S | No |
ClinGen gnomAD |
|
|
CA339206552 rs1571051060 |
449 | F>S | No |
ClinGen Ensembl |
|
|
CA712775 rs148530866 COSM294866 |
450 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA339206579 rs1451506441 |
451 | L>P | No |
ClinGen gnomAD |
|
|
CA339206595 rs1199033517 |
453 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 454 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs939908232 CA19864262 |
454 | D>N | No |
ClinGen TOPMed |
|
|
rs199527309 CA19864266 |
455 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1471289364 CA339206652 |
456 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1471289364 CA339206650 |
456 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA339206657 rs3813795 |
456 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs3813795 CA339206654 |
456 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs3813795 CA712777 |
456 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA19864273 rs1048138598 |
457 | A>D | No |
ClinGen Ensembl |
|
|
rs1412203651 CA339206671 |
457 | A>T | No |
ClinGen gnomAD |
|
|
CA339206687 rs1161223026 |
458 | S>N | No |
ClinGen gnomAD |
|
|
rs1473464913 CA339206679 |
458 | S>R | No |
ClinGen gnomAD |
|
|
rs200249506 CA712778 |
459 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200249506 CA712779 |
459 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA712780 rs760441498 |
459 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA339206698 rs200249506 |
459 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371454137 CA712781 |
460 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs756903911 CA712783 |
461 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA712784 rs201757278 |
461 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs539089020 CA712785 |
462 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339206756 rs1320392735 |
463 | R>K | No |
ClinGen TOPMed |
|
|
CA712787 rs766808880 |
463 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292562483 CA339206771 |
465 | V>M | No |
ClinGen gnomAD |
|
|
CA712788 rs751730523 |
466 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA712789 COSM3930730 COSM3930731 rs377161768 |
466 | R>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs781350268 CA712790 |
467 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483816657 CA339206797 |
467 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 467 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748265479 CA712791 |
468 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA339206820 rs1192416140 |
469 | L>F | No |
ClinGen TOPMed |
|
|
CA712792 rs533659686 |
469 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA712793 rs778968943 |
470 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557548678 CA339206847 |
471 | P>S | No |
ClinGen Ensembl |
|
|
rs745856303 CA712794 |
474 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339206930 rs1371475340 |
475 | H>L | No |
ClinGen gnomAD |
|
|
CA712795 rs771758096 |
475 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA712796 rs775412964 |
476 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA339206991 rs1377058966 |
479 | Y>C | No |
ClinGen TOPMed |
|
|
CA19864317 rs1010989505 |
480 | D>N | No |
ClinGen gnomAD |
|
|
rs1304666012 CA339207010 |
481 | G>S | No |
ClinGen TOPMed |
|
|
rs768360435 CA712798 |
482 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA712799 rs776080624 |
485 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339207083 rs1571051736 |
486 | D>A | No |
ClinGen Ensembl |
|
|
rs201156801 CA712800 |
487 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1584388 CA712801 COSM907854 rs774540763 |
488 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA712802 rs200830813 |
488 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1667300 CA712803 rs763586505 COSM1667301 |
489 | Q>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 490 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339207179 rs1571051828 |
493 | E>D | No |
ClinGen Ensembl |
|
|
CA339207170 COSM1139154 rs1246156537 COSM534520 |
493 | E>K | lung Variant assessed as Somatic; 0.0001459 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA712807 rs200405171 |
494 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA712810 rs778063542 |
498 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA712809 rs756228130 |
498 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA339207239 rs1390880545 |
498 | D>N | No |
ClinGen gnomAD |
|
|
rs745778047 CA712811 |
499 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA339207265 rs1557548964 |
500 | G>R | No |
ClinGen Ensembl |
|
|
CA712812 rs758368533 |
503 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA712813 rs374034129 |
505 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA712814 rs746851793 |
505 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374034129 CA339207323 |
505 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747840939 CA712817 |
509 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1186903047 CA339207406 |
510 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1265987897 CA339207415 |
510 | T>I | No |
ClinGen gnomAD |
|
|
CA712818 rs760662620 |
511 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199946449 CA712819 COSM1584387 COSM907855 |
511 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA712820 rs763315022 |
512 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA19864363 rs202236679 |
512 | L>P | No |
ClinGen 1000Genomes gnomAD |
|
|
CA19864364 rs766076126 |
514 | L>R | No |
ClinGen Ensembl |
|
|
rs1179106859 CA339207467 |
515 | G>S | No |
ClinGen gnomAD |
|
| rs753718528 | 516 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA19864365 rs918226376 |
516 | T>I | No |
ClinGen Ensembl |
|
|
rs199814574 CA712821 |
517 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA19864510 rs951030706 |
519 | S>R | No |
ClinGen Ensembl |
|
|
CA339207658 rs1181342335 |
525 | P>L | No |
ClinGen TOPMed |
|
|
CA339207667 rs1178194302 |
526 | W>* | No |
ClinGen gnomAD |
|
|
CA712841 rs770392859 |
527 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA712842 rs774887189 |
528 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 533 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA712843 rs370911254 |
534 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339207782 rs1386350606 |
538 | Q>K | No |
ClinGen gnomAD |
|
|
CA339207797 rs1166119969 |
539 | A>S | No |
ClinGen TOPMed |
|
|
rs776008871 CA712845 |
542 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369637444 CA339207834 |
543 | Q>* | No |
ClinGen gnomAD |
|
|
CA712846 rs760912371 |
544 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA712849 rs761931676 |
546 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1248316714 CA339207890 |
547 | W>C | No |
ClinGen gnomAD |
|
|
CA339207898 rs1442374681 |
548 | V>A | No |
ClinGen TOPMed |
|
|
CA712852 rs754970189 |
551 | L>R | No |
ClinGen ExAC |
|
|
CA339207930 rs1205489623 |
552 | L>P | No |
ClinGen gnomAD |
|
|
rs752498397 CA712854 |
554 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA712855 rs755709920 |
556 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs11553997 CA19864550 |
557 | N>K | No |
ClinGen Ensembl |
|
|
rs1571053518 CA339207970 |
557 | N>T | No |
ClinGen Ensembl |
|
|
CA339207988 rs748929538 |
559 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748929538 CA712857 |
559 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778342578 CA339207994 |
560 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs778342578 CA712859 |
560 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 560 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA712858 rs373986187 |
560 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746317589 CA712860 |
562 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
No associated diseases with Q8IYJ3
4 regional properties for Q8IYJ3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | C2 domain | 266 - 385 | IPR000008-1 |
| domain | C2 domain | 398 - 527 | IPR000008-2 |
| domain | Rab-binding domain | 31 - 87 | IPR010911 |
| domain | Synaptotagmin-like 1-5, C2B domain | 399 - 555 | IPR043567 |
Functions
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| exocytic vesicle | A transport vesicle that mediates transport from an intracellular compartment to the plasma membrane, and fuses with the plasma membrane to release various cargo molecules, such as proteins or hormones, by exocytosis. |
| 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. |
| extrinsic component of plasma membrane | The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
| melanosome | A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells. |
| microvillus membrane | The portion of the plasma membrane surrounding a microvillus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| neurexin family protein binding | Binding to a neurexin, a synaptic cell surface protein related to latrotoxin receptor, laminin and agrin. Neurexins act as cell recognition molecules at nerve terminals. |
| small GTPase binding | Binding to a small monomeric GTPase. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| exocytosis | A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell. |
| intracellular protein transport | The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. |
45 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P48018 | SYT1 | Synaptotagmin-1 | Bos taurus (Bovine) | PR |
| P21521 | Syt1 | Synaptotagmin 1 | Drosophila melanogaster (Fruit fly) | PR |
| Q7L8C5 | SYT13 | Synaptotagmin-13 | Homo sapiens (Human) | PR |
| Q6XYQ8 | SYT10 | Synaptotagmin-10 | Homo sapiens (Human) | PR |
| Q9H2B2 | SYT4 | Synaptotagmin-4 | Homo sapiens (Human) | PR |
| P21579 | SYT1 | Synaptotagmin-1 | Homo sapiens (Human) | PR |
| Q86XP0 | PLA2G4D | Cytosolic phospholipase A2 delta | Homo sapiens (Human) | PR |
| Q86SS6 | SYT9 | Synaptotagmin-9 | Homo sapiens (Human) | PR |
| Q9BQG1 | SYT3 | Synaptotagmin-3 | Homo sapiens (Human) | PR |
| O00445 | SYT5 | Synaptotagmin-5 | Homo sapiens (Human) | PR |
| Q9BT88 | SYT11 | Synaptotagmin-11 | Homo sapiens (Human) | PR |
| Q9BQS2 | SYT15 | Synaptotagmin-15 | Homo sapiens (Human) | PR |
| Q8N9U0 | TC2N | Tandem C2 domains nuclear protein | Homo sapiens (Human) | PR |
| O43581 | SYT7 | Synaptotagmin-7 | Homo sapiens (Human) | PR |
| Q5T7P8 | SYT6 | Synaptotagmin-6 | Homo sapiens (Human) | PR |
| Q9HCH5 | SYTL2 | Synaptotagmin-like protein 2 | Homo sapiens (Human) | PR |
| Q8TDW5 | SYTL5 | Synaptotagmin-like protein 5 | Homo sapiens (Human) | PR |
| Q96C24 | SYTL4 | Synaptotagmin-like protein 4 | Homo sapiens (Human) | PR |
| P40749 | Syt4 | Synaptotagmin-4 | Mus musculus (Mouse) | PR |
| Q9EQT6 | Syt13 | Synaptotagmin-13 | Mus musculus (Mouse) | PR |
| Q9R0N4 | Syt10 | Synaptotagmin-10 | Mus musculus (Mouse) | PR |
| Q8C6N3 | Syt15 | Synaptotagmin-15 | Mus musculus (Mouse) | PR |
| Q920N7 | Syt12 | Synaptotagmin-12 | Mus musculus (Mouse) | PR |
| Q9R0N5 | Syt5 | Synaptotagmin-5 | Mus musculus (Mouse) | PR |
| Q9R0N9 | Syt9 | Synaptotagmin-9 | Mus musculus (Mouse) | PR |
| Q9R0N8 | Syt6 | Synaptotagmin-6 | Mus musculus (Mouse) | PR |
| Q50L43 | Pla2g4d | Cytosolic phospholipase A2 delta | Mus musculus (Mouse) | PR |
| P46096 | Syt1 | Synaptotagmin-1 | Mus musculus (Mouse) | PR |
| Q9R0N3 | Syt11 | Synaptotagmin-11 | Mus musculus (Mouse) | PR |
| O35681 | Syt3 | Synaptotagmin-3 | Mus musculus (Mouse) | PR |
| P46097 | Syt2 | Synaptotagmin-2 | Mus musculus (Mouse) | PR |
| Q91XT6 | Tc2n | Tandem C2 domains nuclear protein | Mus musculus (Mouse) | PR |
| Q80T23 | Sytl5 | Synaptotagmin-like protein 5 | Mus musculus (Mouse) | PR |
| Q9R0Q1 | Sytl4 | Synaptotagmin-like protein 4 | Mus musculus (Mouse) | PR |
| Q99N80 | Sytl1 | Synaptotagmin-like protein 1 | Mus musculus (Mouse) | PR |
| Q812E4 | Sytl5 | Synaptotagmin-like protein 5 | Rattus norvegicus (Rat) | PR |
| Q925B5 | Syt13 | Synaptotagmin-13 | Rattus norvegicus (Rat) | PR |
| O08625 | Syt10 | Synaptotagmin-10 | Rattus norvegicus (Rat) | PR |
| P47861 | Syt5 | Synaptotagmin-5 | Rattus norvegicus (Rat) | PR |
| Q62746 | Syt6 | Synaptotagmin-6 | Rattus norvegicus (Rat) | PR |
| P97610 | Syt12 | Synaptotagmin-12 | Rattus norvegicus (Rat) | PR |
| P40748 | Syt3 | Synaptotagmin-3 | Rattus norvegicus (Rat) | PR |
| Q925C0 | Syt9 | Synaptotagmin-9 | Rattus norvegicus (Rat) | PR |
| P59926 | Syt15 | Synaptotagmin-15 | Rattus norvegicus (Rat) | PR |
| P21707 | Syt1 | Synaptotagmin-1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPQRGHPSQE | GLWALPSLPM | AHGPKPETEG | LLDLSFLTEE | EQEAIAGVLQ | RDARLRQLEE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GRVSKLRASV | ADPGQLKILT | GDWFQEARSQ | RHHNAHFGSD | LVRASMRRKK | STRGDQAPGH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DREAEAAVKE | KEEGPEPRLT | IDEAPQERLR | ETEGPDFPSP | SVPLKASDPE | EASQAQEDPG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QGDQQVCAEE | ADPELEPASG | GEQEPRPQQA | QTKAASQILE | NGEEAPGPDP | SLDRMLSSSS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SVSSLNSSTL | SGSQMSLSGD | AEAVQVRGSV | HFALHYEPGA | AELRVHVIQC | QGLAAARRRR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SDPYVKSYLL | PDKQSKRKTA | VKKRNLNPVF | NETLRYSVPQ | AELQGRVLSL | SVWHRESLGR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NIFLGEVEVP | LDTWDWGSEP | TWLPLQPRVP | PSPDDLPSRG | LLALSLKYVP | AGSEGAGLPP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SGELHFWVKE | ARDLLPLRAG | SLDTYVQCFV | LPDDSQASRQ | RTRVVRRSLS | PVFNHTMVYD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GFGPADLRQA | CAELSLWDHG | ALANRQLGGT | RLSLGTGSSY | GLQVPWMDST | PEEKQLWQAL |
| 550 | 560 | ||||
| LEQPCEWVDG | LLPLRTNLAP | RT |