Q8TDW5
PR
Gene name |
SYTL5 (SLP5) |
Protein name |
Synaptotagmin-like protein 5 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:94122 |
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 Q8TDW5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8TDW5-F1 | Predicted | AlphaFoldDB |
468 variants for Q8TDW5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA412979727 rs1219096988 |
3 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs759046040 CA10384148 |
4 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1325065301 CA412979758 |
7 | F>C | No |
ClinGen gnomAD |
|
|
CA10384149 rs767268552 |
8 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10384150 rs760067705 |
9 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775135006 CA10384151 |
15 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1602324540 COSM187018 CA412979854 |
20 | M>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA412979847 rs1233189976 |
20 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs995949960 CA328080573 |
23 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA10384154 rs764358245 |
24 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1470985292 CA412979886 |
26 | K>R | No |
ClinGen gnomAD |
|
|
rs1232468681 CA412979907 |
29 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1444775133 CA412979913 |
30 | Y>N | No |
ClinGen gnomAD |
|
|
rs1324292015 CA412979934 |
32 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 32 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1273566940 CA412979963 |
36 | D>G | No |
ClinGen gnomAD |
|
|
rs757079976 CA10384156 |
38 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA412979989 rs1170082720 |
40 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 40 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10384175 rs760745364 |
42 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1337774400 CA412980026 |
43 | K>N | No |
ClinGen gnomAD |
|
|
rs1270392676 CA412980045 |
46 | L>F | No |
ClinGen gnomAD |
|
|
rs1355432146 CA412980059 |
48 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 50 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10384178 rs762093952 |
51 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412980080 rs762093952 |
51 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199690787 CA10384179 |
51 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144672652 TCGA novel CA10384180 |
53 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC TOPMed gnomAD NCI-TCGA |
|
rs758138832 CA10384181 |
54 | G>E | No |
ClinGen ExAC |
|
| TCGA novel | 60 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412980168 rs1262653546 |
64 | C>G | No |
ClinGen gnomAD |
|
| TCGA novel | 64 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751482809 CA10384183 |
65 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs766272918 CA10384182 |
65 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA412980182 rs1472204495 |
66 | H>R | No |
ClinGen TOPMed |
|
|
CA10384184 rs754433512 |
67 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10384185 rs754433512 |
67 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1486276960 CA412980225 |
72 | G>A | No |
ClinGen TOPMed |
|
|
CA10384188 rs147486310 |
74 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs867175501 CA412980237 |
74 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs868016391 CA328082250 |
75 | F>L | No |
ClinGen TOPMed |
|
|
rs1602347929 CA412980248 |
76 | D>G | No |
ClinGen Ensembl |
|
|
rs746187137 CA10384189 |
76 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA412980253 rs780574469 |
77 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780574469 CA10384191 |
77 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10384190 rs772330806 |
77 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412980257 rs1383385349 |
78 | G>R | No |
ClinGen gnomAD |
|
|
rs1209444242 CA412980271 |
80 | P>S | No |
ClinGen TOPMed |
|
|
CA328082252 rs1023289689 |
82 | Q>E | No |
ClinGen Ensembl |
|
|
rs376473841 CA10384193 |
83 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10384194 rs776842401 |
88 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412980348 rs1355951972 |
91 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 91 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA328082254 rs1029900815 |
92 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA10384195 rs762039196 |
93 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA412980357 rs1428323803 |
93 | R>Q | No |
ClinGen TOPMed |
|
|
CA10384197 rs781133865 |
96 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs144103691 CA10384198 |
98 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA412980392 rs1262452125 |
99 | G>D | No |
ClinGen gnomAD |
|
|
rs200888867 CA10384199 |
99 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412980390 rs200888867 |
99 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA328082255 rs920716673 |
101 | W>* | No |
ClinGen Ensembl |
|
|
CA10384201 rs373682306 |
104 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs752190115 CA10384203 |
105 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1362602537 CA412980451 |
107 | D>E | No |
ClinGen gnomAD |
|
| rs777421527 | 109 | I>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10384206 rs145581759 |
110 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs866455377 CA328082256 |
110 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs766545935 CA328083644 |
113 | R>K | No |
ClinGen 1000Genomes |
|
|
CA10384220 rs767385898 |
114 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA10384221 rs752637416 |
115 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 116 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760142513 CA10384222 |
117 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA412980530 rs1470953540 |
118 | E>V | No |
ClinGen TOPMed |
|
|
rs1402805712 CA412980539 |
119 | W>* | No |
ClinGen TOPMed |
|
|
CA328083645 rs1052291762 |
121 | F>L | No |
ClinGen Ensembl |
|
|
CA412980557 rs1406396037 |
122 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1464731221 CA412980569 |
123 | E>G | No |
ClinGen gnomAD |
|
|
rs763539707 CA10384223 |
124 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1391956126 CA412980584 |
125 | A>G | No |
ClinGen gnomAD |
|
|
COSM258912 CA10384224 rs753440296 |
125 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1365276685 CA412980585 |
126 | K>E | No |
ClinGen TOPMed |
|
|
COSM1121014 CA412980588 rs1345016697 |
126 | K>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs764995643 CA10384226 |
127 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA412980606 rs1324553145 |
129 | K>Q | No |
ClinGen gnomAD |
|
|
rs1178882597 CA412980610 |
129 | K>R | No |
ClinGen TOPMed |
|
|
rs1198175474 CA412980615 |
130 | Q>E | No |
ClinGen gnomAD |
|
|
CA10384228 rs755394576 |
130 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA10384229 rs781748767 |
132 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 134 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412980648 rs1178332522 |
135 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA412980646 rs1178332522 |
135 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA412980651 rs1240801316 |
135 | G>V | No |
ClinGen TOPMed |
|
|
CA10384230 rs748686607 |
136 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs756693086 CA10384231 |
140 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA10384232 rs151098113 COSM2151060 |
140 | R>Q | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs750127692 CA10384246 |
150 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA412980786 rs1268406138 |
154 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs141077704 CA10384247 |
155 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs929379105 CA328083759 |
155 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs753150967 CA10384249 |
158 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1049602229 CA412980818 |
159 | T>P | No |
ClinGen TOPMed |
|
|
CA328083761 rs1049602229 |
159 | T>S | No |
ClinGen TOPMed |
|
|
rs187576403 CA10384251 |
160 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149390993 CA10384252 |
160 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs187576403 CA10384250 |
160 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 163 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10384253 rs757364509 |
163 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA10384255 rs759731736 |
165 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1287149660 CA412980861 |
165 | K>N | No |
ClinGen gnomAD |
|
|
rs1215322168 CA412980870 |
167 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs772332075 CA10384256 |
167 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1285960737 CA412980892 |
170 | P>L | No |
ClinGen TOPMed |
|
|
CA412980895 rs1357732291 |
171 | V>I | No |
ClinGen gnomAD |
|
|
CA412980914 rs1248871147 |
174 | K>T | No |
ClinGen gnomAD |
|
|
CA412980923 rs1340977172 |
175 | K>R | No |
ClinGen TOPMed |
|
|
rs1446892535 CA412980930 |
176 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10384258 rs140844128 |
178 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 178 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10384261 rs761186181 |
179 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs377732678 CA10384260 |
179 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377732678 CA10384259 |
179 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs902070756 CA328083762 |
180 | G>E | No |
ClinGen Ensembl |
|
|
rs772896227 CA10384263 |
182 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412980971 rs1446205291 |
183 | R>G | No |
ClinGen gnomAD |
|
|
CA10384264 rs762661767 |
184 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1398829470 CA412980987 |
185 | G>E | No |
ClinGen gnomAD |
|
|
CA10384265 rs766201028 |
185 | G>R | No |
ClinGen ExAC TOPMed |
|
|
CA10384277 rs144659697 |
187 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 189 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1281223177 CA412981028 CA412981027 |
189 | S>R | No |
ClinGen TOPMed |
|
|
CA412981030 rs1239600105 |
190 | K>E | No |
ClinGen TOPMed |
|
|
CA10384278 rs768524325 |
191 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780939784 COSM1467871 CA10384279 |
193 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA328083987 rs867477763 |
194 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 196 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412981108 rs1410327553 |
202 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 207 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10384283 rs774750803 |
208 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs533589055 CA10384282 |
208 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA412981163 rs1337812135 |
210 | Y>C | No |
ClinGen gnomAD |
|
|
rs1335542753 CA412981170 |
211 | S>I | No |
ClinGen gnomAD |
|
|
rs774058182 CA10384285 |
213 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774058182 CA412981185 |
213 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1319443 CA10384288 rs370179164 |
216 | G>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA10384291 rs765804479 |
220 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs762352414 CA10384290 |
220 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs140300874 CA328083990 |
229 | D>E | No |
ClinGen ESP gnomAD |
|
|
rs750492445 CA10384292 |
229 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 229 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1216684846 CA412711359 |
233 | T>N | No |
ClinGen TOPMed |
|
|
CA10384299 rs769522541 |
234 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10384298 rs372772017 |
234 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10384300 rs769522541 |
234 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA412711368 rs1346839578 |
235 | S>L | No |
ClinGen gnomAD |
|
|
CA412711398 rs1223805833 |
240 | D>H | No |
ClinGen gnomAD |
|
|
rs1223805833 CA412711397 |
240 | D>N | No |
ClinGen gnomAD |
|
|
rs188213034 CA10384303 |
245 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs188213034 CA10384302 |
245 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745512937 CA10384304 |
247 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10384305 rs771664426 |
248 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1490168468 CA412711449 |
248 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10384307 rs762226285 |
251 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs773734951 CA10384309 |
252 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749025890 CA10384308 COSM1121016 |
252 | R>W | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1474520814 CA412711483 |
253 | S>N | No |
ClinGen gnomAD |
|
|
rs762969437 CA10384310 |
253 | S>R | No |
ClinGen ExAC |
|
|
CA10384311 rs374381741 |
256 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10384312 rs751628663 |
258 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs755221326 CA10384313 |
262 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA412711549 rs1390502518 |
263 | S>L | No |
ClinGen TOPMed |
|
|
CA10384314 rs767690066 |
267 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs752477785 CA10384315 |
268 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA10384316 rs755977709 |
269 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs368342839 CA10384317 |
269 | R>Q | No |
ClinGen ESP ExAC TOPMed |
|
|
CA327911545 rs770816293 |
270 | T>A | No |
ClinGen 1000Genomes |
|
|
rs749261615 CA10384318 |
271 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1270624270 CA412711604 |
273 | S>L | No |
ClinGen gnomAD |
|
|
CA412711606 rs1396372694 |
274 | V>L | No |
ClinGen TOPMed |
|
|
CA10384322 rs4827331 |
275 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 275 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_024601 rs4827331 CA10384321 |
275 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA327911575 rs199844098 |
276 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10384323 rs199844098 |
276 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202086210 CA10384340 |
278 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181709606 CA412711650 |
279 | Y>H | No |
ClinGen gnomAD |
|
|
rs371645338 CA10384341 |
280 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412711660 rs371645338 |
280 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1024581963 CA327914554 |
282 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 284 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA327914557 rs971077331 |
285 | M>T | No |
ClinGen TOPMed |
|
|
CA327914572 rs983387680 |
288 | A>P | No |
ClinGen Ensembl |
|
|
CA10384342 rs779704553 |
289 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1159210087 CA412711724 |
290 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 292 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412711741 rs1459901066 |
292 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10384343 rs746639507 |
293 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1404931985 CA412711744 |
293 | T>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 302 | R>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_061753 rs57226394 CA10384345 |
302 | R>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs150600953 CA10384346 |
302 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA412711807 rs57226394 |
302 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10384347 rs771411201 |
303 | R>K | No |
ClinGen ExAC |
|
|
rs755335864 CA10384348 |
303 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10384349 rs187009472 |
305 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10384352 rs760950944 |
311 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370020288 CA327914628 |
311 | I>V | No |
ClinGen ESP |
|
|
CA10384353 rs143034665 |
316 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10384354 rs753675195 |
317 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA412711900 rs761531348 |
318 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761531348 CA10384355 |
318 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10384356 rs765159259 |
319 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 320 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412711911 rs1421351213 |
320 | S>P | No |
ClinGen gnomAD |
|
|
CA10384373 rs777001664 |
324 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10384372 rs777001664 COSM1121018 |
324 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10384374 rs764915013 |
325 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 326 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412712492 rs1427504234 |
329 | L>F | No |
ClinGen gnomAD |
|
|
rs766359584 CA10384377 |
334 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs200471225 CA10384378 |
334 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10384380 rs780783437 |
339 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1403218006 CA412712727 |
340 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA412712731 rs1295318196 |
341 | V>L | No |
ClinGen gnomAD |
|
|
rs752315612 CA10384381 |
345 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs908687841 CA327915765 |
346 | K>T | No |
ClinGen Ensembl |
|
| TCGA novel | 351 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412712979 rs1368337122 |
351 | A>T | No |
ClinGen TOPMed |
|
|
rs139945428 CA10384383 |
354 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757467602 CA10384394 |
363 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757467602 CA10384393 |
363 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10384395 rs774302519 |
364 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA10384396 rs138262806 |
365 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA412714075 rs1602398005 |
366 | A>D | No |
ClinGen Ensembl |
|
|
rs1436319357 CA412714068 |
366 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10384398 rs752291901 |
368 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 369 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144315180 COSM3694576 CA10384399 |
369 | S>P | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| TCGA novel | 370 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10384400 rs763867304 |
370 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758841226 CA10384402 |
371 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs375981345 CA10384403 |
373 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10384404 rs771913008 |
378 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148783666 CA10384405 COSM187043 |
378 | R>H | lung large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA327919953 rs771913008 |
378 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10384407 rs200192057 |
380 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA412714243 rs370444363 |
380 | A>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10384406 rs370444363 |
380 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 382 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412714276 rs1182359618 |
382 | G>V | No |
ClinGen gnomAD |
|
|
CA412715313 rs1207203449 |
386 | T>P | No |
ClinGen gnomAD |
|
|
rs906640208 CA327922983 |
389 | N>I | No |
ClinGen TOPMed |
|
|
rs1191516273 CA412715390 |
391 | M>I | No |
ClinGen TOPMed |
|
|
CA10384424 rs202238641 |
391 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10384425 rs781727907 |
392 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA327923027 rs371188166 |
393 | S>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10384426 rs752650929 |
393 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs147313343 COSM1467872 CA10384427 |
394 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs901481887 CA412715468 |
397 | E>K | No |
ClinGen Ensembl |
|
|
CA327923041 rs901481887 |
397 | E>Q | No |
ClinGen Ensembl |
|
|
rs777808106 CA10384428 |
398 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA412715491 rs777808106 |
398 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA412715483 rs1403828157 |
398 | T>S | No |
ClinGen gnomAD |
|
|
rs1436666504 CA412715496 |
399 | G>R | No |
ClinGen gnomAD |
|
|
rs375595402 CA10384430 |
400 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745722298 COSM757325 CA10384432 |
401 | Y>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA412715521 rs778676943 |
401 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs778676943 CA10384431 |
401 | Y>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 402 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412715557 rs1326209336 |
403 | N>I | No |
ClinGen TOPMed |
|
|
CA412715569 rs1223543719 |
404 | V>A | No |
ClinGen TOPMed |
|
|
rs1302445386 CA412715562 |
404 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1358582537 CA412715571 |
405 | K>Q | No |
ClinGen gnomAD |
|
|
rs760066686 CA10384435 |
411 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10384436 rs760066686 |
411 | L>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 412 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412715711 rs1241950500 |
413 | H>R | No |
ClinGen gnomAD |
|
|
CA10384437 rs142453537 |
413 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 414 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368550002 CA10384438 |
420 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765037039 CA10384439 |
422 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10384440 rs372413286 |
423 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 424 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759982076 CA10384441 |
424 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 427 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1602402677 CA412716005 |
428 | K>N | No |
ClinGen Ensembl |
|
|
CA10384443 rs753279123 |
431 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756619527 CA10384444 |
434 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs753976725 CA10384446 |
436 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA10384447 rs757465018 |
437 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA10384449 rs745601830 |
445 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149869826 CA10384450 |
445 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1405071512 CA412716675 |
448 | K>* | No |
ClinGen gnomAD |
|
|
CA10384459 rs767892713 |
449 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs5918476 CA412716693 |
450 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10384461 rs761230675 |
451 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 451 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210818024 CA412716712 |
454 | D>N | No |
ClinGen gnomAD |
|
|
rs1269224240 CA412716717 |
454 | D>V | No |
ClinGen gnomAD |
|
|
rs1461129018 CA412716721 |
455 | K>E | No |
ClinGen gnomAD |
|
|
COSM3424785 rs968501894 CA327924440 |
456 | S>P | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA10384462 rs764574257 |
457 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA327924444 rs375053219 |
457 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs143135845 CA10384464 |
458 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10384463 rs369071287 |
458 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10384465 rs765391375 |
459 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA327924464 rs1057043745 |
461 | R>C | No |
ClinGen gnomAD |
|
|
rs750671871 CA10384466 |
461 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA412716771 rs750671871 |
461 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA10384467 rs146670535 |
463 | T>S | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1304318701 CA412716838 |
466 | R>K | No |
ClinGen gnomAD |
|
|
CA10384468 rs779872442 |
467 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs770078461 CA10384469 |
470 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10384470 rs754880992 |
471 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1348691522 CA412716901 |
472 | E>G | No |
ClinGen gnomAD |
|
|
rs377689416 CA327924497 |
473 | F>L | No |
ClinGen Ensembl |
|
|
rs781294920 CA10384471 |
474 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412716936 rs768865858 |
475 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768865858 CA10384472 |
475 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323036128 CA412716964 |
476 | T>I | No |
ClinGen gnomAD |
|
|
rs756170702 CA10384490 |
480 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA412717071 rs1427669651 |
481 | I>V | No |
ClinGen gnomAD |
|
|
CA412717114 rs1196145658 |
484 | T>A | No |
ClinGen TOPMed |
|
|
CA412717121 rs1186395493 |
484 | T>I | No |
ClinGen gnomAD |
|
|
rs979301726 CA327925730 |
487 | E>G | No |
ClinGen TOPMed |
|
|
rs1430255602 CA412717172 |
489 | R>G | No |
ClinGen gnomAD |
|
|
rs375148295 CA10384491 |
490 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412717190 rs1169382673 |
490 | T>S | No |
ClinGen gnomAD |
|
|
rs1602406656 CA412717197 |
491 | L>V | No |
ClinGen Ensembl |
|
|
rs369341747 CA10384493 |
494 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199602012 CA10384495 |
495 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772397387 CA10384497 |
496 | W>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1367977558 CA412717259 |
496 | W>L | No |
ClinGen gnomAD |
|
|
rs762281479 CA10384498 |
497 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765786392 CA10384499 |
498 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 499 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 500 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1265695006 CA412717308 |
500 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs773280892 CA10384500 |
503 | R>C | Variant assessed as Somatic; 6.273e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10384502 rs762960155 |
503 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10384501 rs762960155 |
503 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412717350 rs1395807523 |
504 | N>T | No |
ClinGen TOPMed |
|
| TCGA novel | 505 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751763199 CA10384503 |
506 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs767398878 CA10384505 |
508 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA412717411 rs1365288111 |
509 | E>Q | No |
ClinGen gnomAD |
|
|
rs376417484 CA10384507 |
510 | V>A | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1422172462 CA412717445 |
511 | E>V | No |
ClinGen gnomAD |
|
|
CA10384508 rs201810802 |
512 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA327925898 rs867456568 |
513 | P>S | No |
ClinGen TOPMed |
|
|
CA412717503 rs1350695372 |
515 | D>E | No |
ClinGen gnomAD |
|
|
CA10384509 rs753330032 |
518 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 519 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA327925917 rs1048355913 |
522 | P>T | Variant assessed as Somatic; 6.329e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs756737556 CA10384510 |
523 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412719341 rs1398675399 |
533 | V>A | No |
ClinGen TOPMed |
|
|
rs1411627274 CA412719337 |
533 | V>M | No |
ClinGen TOPMed |
|
|
rs1569194277 CA412719358 |
534 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1602417344 CA412719380 |
536 | A>S | No |
ClinGen Ensembl |
|
|
CA327933242 rs371238169 |
540 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
rs201450119 CA10384528 |
541 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412719447 rs1357941319 |
541 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 543 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412719497 rs1302982242 |
545 | G>* | No |
ClinGen gnomAD |
|
|
rs1026767581 CA327933248 |
546 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA412719528 rs1268763848 |
548 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA412719533 rs1289871109 |
548 | T>R | No |
ClinGen gnomAD |
|
| TCGA novel | 551 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs192937718 CA10384530 |
552 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10384531 rs779699577 |
552 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412719579 rs192937718 |
552 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748466943 CA10384532 |
554 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs770179535 CA10384533 |
555 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1199396805 CA412719676 |
558 | E>K | No |
ClinGen TOPMed |
|
|
rs1254272283 CA412719742 |
562 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA412719738 rs1254272283 |
562 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA10384536 rs771527613 |
566 | Q>R | No |
ClinGen ExAC |
|
|
rs774291738 CA10384537 |
567 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs953925459 CA327933285 |
567 | L>P | No |
ClinGen Ensembl |
|
|
CA412719860 rs1352668945 |
569 | G>R | No |
ClinGen TOPMed |
|
|
CA412720121 rs1321051720 |
572 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA327934135 rs200512943 |
575 | K>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA412720290 rs1602419032 |
578 | K>T | No |
ClinGen Ensembl |
|
|
rs202096216 CA10384561 |
582 | P>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA412720566 rs1348387565 |
589 | L>I | No |
ClinGen gnomAD |
|
|
CA10384564 rs747208837 |
591 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1569195129 CA412720856 COSM1467873 COSM3844636 |
597 | K>N | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs375233532 CA412720931 |
601 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375233532 CA10384565 |
601 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1247798034 CA412720948 |
602 | V>M | No |
ClinGen gnomAD |
|
|
rs914991195 CA327934178 |
603 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA412721047 rs1448260647 |
605 | G>V | No |
ClinGen gnomAD |
|
|
rs1191029508 CA412721074 |
606 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA412721083 rs1191029508 |
606 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA412721194 rs1195066839 |
612 | V>M | No |
ClinGen TOPMed |
|
|
rs1222581845 CA412721242 |
614 | G>S | No |
ClinGen gnomAD |
|
|
CA10384578 rs369142412 |
620 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA327935803 rs964643738 |
622 | K>N | No |
ClinGen gnomAD |
|
|
rs1163977567 CA412722776 |
623 | A>D | No |
ClinGen TOPMed |
|
|
CA412722810 rs1184783599 |
624 | T>I | No |
ClinGen gnomAD |
|
|
rs759020037 CA10384579 |
625 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA412722912 rs1475358954 |
628 | T>S | No |
ClinGen gnomAD |
|
|
CA412722949 rs1428942311 |
631 | I>L | No |
ClinGen TOPMed |
|
| TCGA novel | 632 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412722995 rs1157918575 |
632 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs780265036 CA10384580 |
633 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA412723083 CA10384581 rs747176934 |
634 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs974681594 CA327935862 |
636 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA412723340 rs1198341091 |
645 | F>L | No |
ClinGen TOPMed |
|
|
CA10384583 rs776938631 |
645 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867770202 CA327935912 |
645 | F>S | No |
ClinGen Ensembl |
|
|
CA10384584 rs747861437 |
646 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA10384585 rs769603310 |
655 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 659 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412723676 rs1327275789 |
661 | T>S | No |
ClinGen gnomAD |
|
|
rs1405508876 CA412723678 |
662 | I>L | No |
ClinGen gnomAD |
|
|
rs762865400 CA412723856 |
667 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs762865400 CA10384587 |
667 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs770923911 CA10384588 |
668 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA10384589 rs770923911 |
668 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs759100775 CA10384590 |
669 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA10384591 rs767027944 |
670 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA10384593 rs760283295 |
670 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752426362 CA10384592 |
670 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs765674083 CA10384594 |
672 | I>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 676 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1182336253 CA412724112 |
677 | V>I | No |
ClinGen gnomAD |
|
|
rs866376299 CA327936059 COSM1121023 |
678 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs750873467 CA10384595 |
678 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA412724133 rs866376299 |
678 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA412724177 rs1174220396 |
679 | L>F | No |
ClinGen gnomAD |
|
|
rs758966904 CA10384596 |
682 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs766955599 CA10384616 |
684 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs997010396 CA327936098 |
684 | G>S | No |
ClinGen TOPMed |
|
|
CA327936921 rs776301162 |
685 | V>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 689 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412724616 TCGA novel rs752079162 |
690 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
rs755489886 CA10384618 |
691 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA327936930 rs201594985 |
692 | D>G | No |
ClinGen Ensembl |
|
|
CA10384619 rs781322058 |
692 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1204563150 CA412724696 |
693 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
CA327936938 rs928919574 |
695 | D>G | No |
ClinGen TOPMed |
|
|
CA412724736 rs1264517608 |
695 | D>N | No |
ClinGen gnomAD |
|
|
CA412724790 rs1211422063 |
697 | Q>H | No |
ClinGen gnomAD |
|
|
rs561453489 CA10384620 |
697 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756264164 CA10384621 |
698 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs141712598 CA327936962 COSM110149 |
698 | G>R | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs756264164 CA412724824 |
698 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs149096056 CA10384622 |
702 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143176819 CA10384623 |
702 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA327936990 rs958747132 |
703 | L>P | No |
ClinGen Ensembl |
|
|
CA412725124 rs1171154983 |
707 | M>T | No |
ClinGen gnomAD |
|
|
CA412725170 rs1261685485 |
708 | A>G | No |
ClinGen TOPMed |
|
|
rs1012649965 CA327936996 |
711 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs992803818 CA327936999 |
711 | P>L | No |
ClinGen Ensembl |
|
|
rs1012649965 CA412725322 |
711 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs778612460 CA10384625 |
712 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA10384626 rs138955526 |
713 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA327937025 rs1023163615 |
718 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA327937026 rs765117718 |
719 | L>V | No |
ClinGen Ensembl |
|
|
rs775371579 COSM612404 CA327937027 |
720 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs374383512 CA10384627 |
722 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10384628 rs775058607 |
722 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA412725510 rs775058607 |
722 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1214663234 CA412725589 |
726 | G>R | No |
ClinGen gnomAD |
|
|
rs768362034 CA10384630 |
727 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10384631 rs776441662 |
728 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10384632 rs761601660 |
728 | C>Y | No |
ClinGen ExAC gnomAD |
No associated diseases with Q8TDW5
7 regional properties for Q8TDW5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | C2 domain | 406 - 528 | IPR000008-1 |
| domain | C2 domain | 563 - 705 | IPR000008-2 |
| domain | Rab-binding domain | 7 - 123 | IPR010911 |
| domain | Synaptotagmin-like protein 4/5, C2A domain | 407 - 530 | IPR037303 |
| domain | FYVE-type zinc finger | 13 - 123 | IPR041282 |
| domain | Synaptotagmin-l, FYVE-related domain | 62 - 108 | IPR042783 |
| domain | Synaptotagmin-like 1-5, C2B domain | 544 - 722 | IPR043567 |
2 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| metal ion binding | Binding to a metal ion. |
| 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. |
| phospholipid binding | Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester. |
| 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 |
| Q8IYJ3 | SYTL1 | Synaptotagmin-like protein 1 | Homo sapiens (Human) | PR |
| Q9HCH5 | SYTL2 | Synaptotagmin-like protein 2 | 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 |
| Q99N80 | Sytl1 | Synaptotagmin-like protein 1 | 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 |
| Q9R0Q1 | Sytl4 | Synaptotagmin-like protein 4 | Mus musculus (Mouse) | PR |
| Q80T23 | Sytl5 | Synaptotagmin-like protein 5 | Mus musculus (Mouse) | 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 |
| Q812E4 | Sytl5 | Synaptotagmin-like protein 5 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSKNSEFINL | SFLLDHEKEM | ILGVLKRDEY | LKKVEDKRIR | KLKNELLEAK | RRSGKTQQEA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SRVCVHCHRN | LGLIFDRGDP | CQACSLRVCR | ECRVAGPNGS | WKCTVCDKIA | QLRIITGEWF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FEEKAKRFKQ | VNVLGTDVVR | QSILRRSPGA | EEVQSQEQTR | QDAEKSDTSP | VAGKKASHDG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PKRKGFLLSK | FRSATRGEII | TPKTDTGRSY | SLDLDGQHFR | SLKSPPGSDR | GSTGSSDLND |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QEPGPRTPKS | SRSNGVTPGT | QSSPAPSTRT | VTSVISREYG | FENSMDLAAI | EGTSQELTKS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| HRRNTSGTPS | IAVSGTSLSS | DQSRSELDLS | ESFTEDSEDT | VSIRSKSVPG | ALDKDSLEET |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EESIDALVSS | QLSTNTHRLA | SGLSTTSLNS | MMSVYSETGD | YGNVKVSGEI | LLHISYCYKT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GGLYIFVKNC | RNLAIGDEKK | QRTDAYVKSY | LLPDKSRNNK | RKTKIRTGTN | PEFNETLKYT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ISHTQLETRT | LQLSVWHYDR | FGRNSFLGEV | EIPFDSWNFE | NPTDEWFVLQ | PKVEFAPDIG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LQYKGELTVV | LRYIPPEENL | MLPPEQLQGN | KTFKKGKKKE | SPVISGGILE | VFIKEAKNLT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| AVKSGGTSDS | FVKGYLLPDD | SKATKHKTLV | IKKSVNPQWN | HTFMFSGIHP | QDIKNVCLEL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| TIWDKEAFSS | NIFLGGVRLN | SGSGVSHGKN | VDWMDSQGEE | QRLWQKMANN | PGTPFEGVLM |
| LRSSMGKCRL |