Q5T7P8
Gene name |
SYT6 |
Protein name |
Synaptotagmin-6 |
Names |
Synaptotagmin VI, SytVI |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:148281 |
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 Q5T7P8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5T7P8-F1 | Predicted | AlphaFoldDB |
461 variants for Q5T7P8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs142164979 CA058406 RCV000207150 |
491 | A>T | Ductal breast carcinoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA1018153 rs781638657 |
2 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1462833913 CA341726133 |
2 | S>R | No |
ClinGen TOPMed |
|
|
rs771253151 CA1018152 |
2 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA341726125 rs1463597301 |
3 | G>A | No |
ClinGen gnomAD |
|
|
CA29038395 rs942399047 |
3 | G>R | No |
ClinGen gnomAD |
|
|
CA341726122 rs1355279461 |
4 | V>M | No |
ClinGen gnomAD |
|
|
CA29038393 rs868175090 |
5 | W>* | No |
ClinGen gnomAD |
|
|
CA341726111 rs1397233721 |
5 | W>C | No |
ClinGen gnomAD |
|
|
CA341726116 rs747391949 |
5 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341726115 rs868175090 |
5 | W>L | No |
ClinGen gnomAD |
|
|
rs747391949 CA341726117 CA1018151 |
5 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341726103 rs912797533 |
7 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA29038387 rs912797533 |
7 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1017132694 CA341726092 CA29038378 |
9 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 11 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1251476217 CA341726067 |
13 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1005208462 CA29038370 |
14 | E>Q | No |
ClinGen TOPMed |
|
|
CA341726039 rs1571911891 |
16 | L>F | No |
ClinGen Ensembl |
|
|
rs913359256 CA29038343 |
18 | V>I | No |
ClinGen Ensembl |
|
|
rs990741290 CA29038340 |
20 | A>D | No |
ClinGen gnomAD |
|
|
rs1197743879 CA341725994 |
20 | A>S | No |
ClinGen TOPMed |
|
|
CA341725984 rs1375973856 |
21 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA341725981 rs1375973856 |
21 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1439749515 CA341725988 |
21 | S>T | No |
ClinGen gnomAD |
|
|
rs1393167145 CA341725962 |
23 | C>* | No |
ClinGen gnomAD |
|
|
rs1034462446 CA29038332 |
24 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 24 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341725944 rs1557775665 |
25 | A>G | No |
ClinGen Ensembl |
|
|
CA341725948 rs1415590610 |
25 | A>S | No |
ClinGen TOPMed |
|
|
rs971424292 CA29038295 |
27 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs971424292 CA341725929 |
27 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1018149 rs758840771 |
27 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1018148 rs575907887 |
28 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341725922 rs1419485034 |
28 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1018147 rs779498858 |
29 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs565298820 CA341725914 |
29 | P>H | No |
ClinGen gnomAD |
|
|
CA29038244 rs565298820 |
29 | P>L | No |
ClinGen gnomAD |
|
|
CA341725912 rs565298820 |
29 | P>R | No |
ClinGen gnomAD |
|
|
rs1186677752 CA341725900 |
31 | G>R | No |
ClinGen gnomAD |
|
|
CA341725874 rs1201319137 |
33 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA29038235 rs943520762 |
33 | D>N | No |
ClinGen TOPMed |
|
|
CA341725871 rs1201319137 |
33 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA341725863 rs1484483376 |
34 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1484483376 CA341725866 |
34 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1046872220 CA29038224 |
35 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA341725844 rs1259187269 |
36 | T>A | No |
ClinGen gnomAD |
|
|
CA1018145 rs750089985 |
38 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 39 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1317496260 CA341725791 |
41 | E>K | No |
ClinGen gnomAD |
|
|
CA341725765 rs1312075217 |
43 | Q>R | No |
ClinGen gnomAD |
|
|
rs946726413 CA29038198 |
44 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA29038178 rs913916791 |
46 | E>A | No |
ClinGen TOPMed |
|
|
rs562471602 CA1018144 |
46 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341725730 rs1259653422 |
47 | R>W | No |
ClinGen TOPMed |
|
|
CA29038170 rs1039452453 |
48 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1313728575 CA341725708 |
49 | P>S | No |
ClinGen gnomAD |
|
|
CA29038158 rs988180255 |
50 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs765445385 CA29038151 |
50 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1383298070 CA341725685 |
51 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA341725676 rs1291038336 |
52 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs865992197 CA29038133 |
52 | A>V | No |
ClinGen TOPMed |
|
|
CA341725666 rs1465188111 |
53 | G>V | No |
ClinGen TOPMed |
|
|
rs1194973245 CA341724784 |
55 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1428907138 CA341724779 |
56 | T>N | No |
ClinGen gnomAD |
|
|
CA29026692 rs965206354 |
58 | V>A | No |
ClinGen Ensembl |
|
|
CA341724764 rs1252244066 |
59 | S>G | No |
ClinGen gnomAD |
|
|
rs1031478781 CA29026688 |
60 | L>F | No |
ClinGen TOPMed |
|
|
CA1018127 rs755618817 |
62 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA29026673 rs991048938 |
63 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1195370146 CA341724733 |
64 | V>A | No |
ClinGen gnomAD |
|
|
CA29026669 rs968461863 |
65 | V>I | No |
ClinGen Ensembl |
|
|
rs540117943 CA29026666 |
66 | I>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA1018125 rs780766148 |
70 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1018124 rs145506145 |
71 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs560943567 CA1018123 |
71 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341724625 rs1325986710 |
81 | W>* | No |
ClinGen gnomAD |
|
|
CA341724624 rs1325986710 |
81 | W>C | No |
ClinGen gnomAD |
|
|
rs1394218075 CA341724595 |
85 | W>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs752734460 CA1018120 |
85 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751862880 CA1018119 |
87 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs751862880 CA29026611 |
87 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA1018118 rs759588367 |
88 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1213990126 CA341724580 |
88 | W>G | No |
ClinGen TOPMed |
|
|
CA1018117 rs766511873 |
90 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1018115 rs760843790 |
90 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs766511873 CA1018116 |
90 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1018114 rs773587694 |
91 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA1018113 rs772472114 |
93 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1278620594 CA341724540 |
94 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 95 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341724528 rs1237044024 |
95 | S>R | No |
ClinGen gnomAD |
|
|
rs1557765933 CA341724525 |
96 | P>A | No |
ClinGen Ensembl |
|
|
CA341724503 rs1279499600 |
99 | A>V | No |
ClinGen gnomAD |
|
|
CA1018111 rs774785640 |
100 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs769194329 CA1018110 |
101 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 101 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341724494 rs769194329 |
101 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769194329 CA341724495 |
101 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341724489 rs149181288 |
102 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341724488 rs199728827 |
102 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1018106 rs199728827 |
102 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1018107 rs199728827 |
102 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1018108 rs149181288 |
102 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341724487 rs1557765845 |
103 | L>M | No |
ClinGen Ensembl |
|
|
CA341724485 rs1165990378 |
103 | L>W | No |
ClinGen TOPMed |
|
|
CA341724480 rs1171450714 |
104 | E>K | No |
ClinGen gnomAD |
|
|
CA1018103 rs777549517 |
105 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1035912142 CA29026499 |
106 | L>F | No |
ClinGen gnomAD |
|
|
CA29026495 rs1029218488 |
108 | S>G | No |
ClinGen TOPMed |
|
|
CA1018102 rs149700277 |
108 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140788805 CA1018101 |
109 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341724442 rs1333886220 |
110 | S>G | No |
ClinGen TOPMed |
|
|
CA29026493 rs1036558663 |
110 | S>T | No |
ClinGen Ensembl |
|
|
CA1018100 rs200324360 |
111 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341724418 rs1182700035 |
113 | G>A | No |
ClinGen gnomAD |
|
|
CA341724414 rs1255668399 |
114 | N>H | No |
ClinGen gnomAD |
|
|
CA29026489 rs796474741 |
114 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs942082348 CA29026488 |
115 | M>I | No |
ClinGen Ensembl |
|
|
CA341724398 rs754874998 |
116 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA29026483 rs754874998 |
116 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1018099 rs754874998 |
116 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 117 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766432523 CA1018097 |
121 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341724364 rs1226747843 |
121 | D>G | No |
ClinGen Ensembl |
|
|
rs1280772394 CA341724360 |
122 | P>A | No |
ClinGen gnomAD |
|
|
CA341724356 rs1228478381 |
122 | P>L | No |
ClinGen gnomAD |
|
|
rs760719726 CA1018096 |
124 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA341724347 rs1571892480 |
124 | T>P | No |
ClinGen Ensembl |
|
|
rs750684042 CA1018095 |
125 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA341724334 rs1444131214 |
126 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA341724335 rs1444131214 |
126 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA341724324 rs1416352961 |
128 | L>M | No |
ClinGen gnomAD |
|
|
CA341724311 rs1399092028 |
130 | A>T | No |
ClinGen gnomAD |
|
|
CA1018093 rs762223986 |
130 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs923271152 CA29026427 |
131 | A>S | No |
ClinGen Ensembl |
|
|
CA341724301 rs553637905 |
132 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1018089 rs553637905 |
132 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341724289 rs1254145932 |
133 | K>N | No |
ClinGen TOPMed |
|
|
CA341724260 rs1474926870 |
137 | T>M | No |
ClinGen gnomAD |
|
|
rs568010023 CA1018087 |
140 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1018085 rs771789727 |
143 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1046410931 CA29026411 |
143 | A>V | No |
ClinGen TOPMed |
|
|
rs1171375998 CA341724207 |
146 | Q>* | No |
ClinGen TOPMed |
|
|
CA341724204 rs1208756336 |
146 | Q>L | No |
ClinGen gnomAD |
|
|
rs543454369 CA29026383 |
147 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1018082 rs754890380 |
147 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1171370110 CA341724199 |
147 | M>L | No |
ClinGen gnomAD |
|
|
rs754890380 CA1018083 |
147 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1018081 rs753862280 |
148 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs976665830 CA29026376 |
148 | S>P | No |
ClinGen Ensembl |
|
|
rs779934508 CA1018080 |
150 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1018078 rs767741595 |
152 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1018077 rs767741595 |
152 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761957579 CA341724165 |
152 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1018075 rs371783276 |
153 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1392333879 CA341724156 |
154 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs764473426 CA1018074 |
154 | M>L | No |
ClinGen ExAC |
|
|
rs1392333879 CA341724155 |
154 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1018073 rs144510124 |
155 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138691067 CA1018072 |
155 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs760272255 CA341724132 |
158 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1018069 rs369527892 |
158 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs760272255 CA1018070 |
158 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs919737513 CA29026290 |
161 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs747784943 CA1018067 |
162 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs377145374 CA341724101 |
163 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377145374 CA1018066 |
163 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1021291141 CA29026283 |
164 | T>I | No |
ClinGen Ensembl |
|
|
rs749031646 CA1018064 |
166 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs376151928 CA1018063 |
167 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs368541580 CA29026258 |
170 | T>I | No |
ClinGen ESP gnomAD |
|
|
rs368541580 CA341724062 |
170 | T>N | No |
ClinGen ESP gnomAD |
|
|
CA341724058 rs1439378949 |
171 | R>K | No |
ClinGen gnomAD |
|
|
CA1018031 rs754434860 |
173 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA29025046 rs895436720 |
175 | F>L | No |
ClinGen TOPMed |
|
|
CA341723504 rs1175684668 |
176 | K>R | No |
ClinGen TOPMed |
|
|
rs1453654266 CA341723494 |
177 | R>C | No |
ClinGen gnomAD |
|
|
rs763812187 CA1018027 |
177 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1571889206 CA341723479 |
178 | H>P | No |
ClinGen Ensembl |
|
|
rs371848111 CA1018026 |
182 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA29025017 rs989946330 |
183 | M>V | No |
ClinGen Ensembl |
|
|
rs150262816 CA29025004 |
184 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1018025 rs150262816 |
184 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341723399 rs1436409134 |
185 | V>A | No |
ClinGen TOPMed |
|
|
rs1347355297 CA341723404 |
185 | V>I | No |
ClinGen TOPMed |
|
|
rs769628293 CA1018024 |
186 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA1018023 rs759298495 |
186 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368076667 CA341723379 |
187 | S>R | No |
ClinGen TOPMed |
|
|
rs776619825 CA1018022 |
187 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs191231268 CA1018020 |
189 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs184423647 CA1018021 |
189 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341723360 rs1258908501 |
190 | Y>H | No |
ClinGen gnomAD |
|
|
rs777670870 CA1018019 |
191 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201435875 CA29024968 |
192 | N>H | No |
ClinGen 1000Genomes |
|
|
CA1018018 rs748426897 |
192 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA1018017 rs748426897 |
192 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA341723344 rs748426897 |
192 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs779243018 CA1018016 |
193 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1018014 rs754240600 |
194 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1018013 rs780623577 |
196 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1018012 rs756511075 |
197 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 199 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200991146 CA1018011 |
199 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1018008 rs534948461 |
201 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1018007 rs566054581 |
202 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1018006 rs151084905 |
203 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs151084905 CA1018005 |
203 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA29024921 rs200198215 |
204 | I>N | No |
ClinGen Ensembl |
|
|
CA341723208 rs200198215 |
204 | I>T | No |
ClinGen Ensembl |
|
|
rs370559929 CA1018003 |
206 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs760477294 CA1018002 |
206 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs368319366 CA341723173 |
207 | I>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA341723183 rs1465324548 |
207 | I>V | No |
ClinGen gnomAD |
|
|
CA1018001 rs773175899 |
208 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA1017999 rs748232754 |
211 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1325081253 CA341723118 |
212 | Y>* | No |
ClinGen gnomAD |
|
|
CA341723126 rs1227088166 |
212 | Y>H | No |
ClinGen gnomAD |
|
|
rs374287808 CA1017998 |
215 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA29024812 rs201787036 |
216 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1017996 rs201787036 |
216 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs750942963 CA1017993 |
219 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs756668154 CA1017994 |
219 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1017992 rs781702986 |
220 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341723005 rs1449998398 |
221 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1004811052 CA29024782 |
221 | D>Y | No |
ClinGen gnomAD |
|
|
rs764887193 CA1017989 |
222 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs752192289 CA1017990 |
222 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 223 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754562664 CA1017988 |
225 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1017987 rs753685693 |
226 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1334704157 CA341722906 |
228 | K>E | No |
ClinGen TOPMed |
|
|
rs1195421458 CA341722896 |
228 | K>N | No |
ClinGen gnomAD |
|
|
rs1337762157 CA341722877 |
229 | S>I | No |
ClinGen gnomAD |
|
|
rs370907546 CA1017985 |
230 | C>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1229609356 CA341722806 |
233 | I>T | No |
ClinGen gnomAD |
|
|
rs773087545 CA1017984 |
234 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301914476 CA341722749 |
236 | S>C | No |
ClinGen gnomAD |
|
|
CA341722745 rs1433630497 |
236 | S>N | No |
ClinGen gnomAD |
|
|
CA1017982 rs201154501 |
238 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201154501 CA1017983 |
238 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775760332 CA1017978 |
240 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs140277785 CA1017979 |
240 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1017980 rs140277785 |
240 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1571888512 CA341722631 |
242 | E>D | No |
ClinGen Ensembl |
|
|
rs564717037 CA1017975 |
242 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1017976 rs564717037 |
242 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341722608 rs1394352128 |
243 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1017973 rs148239218 |
244 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs187137326 CA1017972 |
247 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs964287825 CA29024632 |
248 | V>L | No |
ClinGen TOPMed |
|
|
CA1017971 rs558921980 |
249 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1017969 rs139165674 |
249 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs139165674 CA1017970 |
249 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA341722522 rs1416210291 |
250 | I>V | No |
ClinGen TOPMed |
|
|
rs1254257015 CA341722461 |
253 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1254257015 CA341722458 |
253 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA341722423 rs1571888412 |
255 | D>A | No |
ClinGen Ensembl |
|
|
CA341722411 rs1164377555 |
255 | D>E | No |
ClinGen TOPMed |
|
|
rs1206248062 CA341722400 |
256 | L>R | No |
ClinGen gnomAD |
|
|
rs1278683225 CA341722376 |
257 | P>L | No |
ClinGen gnomAD |
|
|
CA1017966 rs767566347 |
258 | A>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 258 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1237713446 CA341722313 |
260 | D>G | No |
ClinGen gnomAD |
|
|
rs1274927601 CA341722324 |
260 | D>N | No |
ClinGen gnomAD |
|
|
rs761801885 CA1017965 |
261 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA1017963 rs764319551 |
262 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs766224738 CA29024582 |
263 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1360000391 CA341722237 |
264 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1017962 rs202235973 |
264 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1017961 rs775644153 |
265 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411882655 CA341722215 |
266 | D>A | No |
ClinGen gnomAD |
|
|
CA341722222 rs1402730847 |
266 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs762576626 CA1017960 |
269 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1001235944 CA341722148 CA29024555 |
270 | K>N | No |
ClinGen TOPMed |
|
|
rs746235237 CA1017959 |
271 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA29024548 rs772791082 |
275 | P>R | No |
ClinGen Ensembl |
|
|
CA1017958 rs202111489 |
277 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1414410881 CA341721991 |
278 | K>T | No |
ClinGen gnomAD |
|
|
rs771463392 CA1017957 |
279 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA341721964 rs1475029029 |
280 | K>E | No |
ClinGen gnomAD |
|
|
CA1017956 rs747559412 |
283 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs778219099 CA1017954 |
284 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1212768713 CA341721909 |
284 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1191446156 CA341721872 |
286 | H>Y | No |
ClinGen gnomAD |
|
|
rs199947720 CA1017949 |
287 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373704316 CA1017948 |
287 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA29024520 rs373704316 |
287 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373704316 CA341721849 |
287 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199947720 CA1017950 |
287 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341721810 rs1169118465 |
289 | T>N | No |
ClinGen TOPMed |
|
|
rs751596042 CA1017946 |
292 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1017944 rs41274114 |
293 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA29024479 rs901283171 |
296 | E>K | No |
ClinGen TOPMed |
|
|
CA1017943 rs369404390 |
297 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1017942 rs765387738 |
298 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1160078549 CA341721646 |
301 | P>R | No |
ClinGen gnomAD |
|
|
CA29024452 rs373910479 |
301 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1017941 rs759750846 |
302 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776807792 CA1017940 |
304 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 304 | Y>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1191628546 CA341721551 |
309 | D>A | No |
ClinGen gnomAD |
|
|
rs1191628546 CA341721549 |
309 | D>G | No |
ClinGen gnomAD |
|
|
CA1017938 rs761017562 |
310 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1017937 rs776030947 |
310 | R>H | Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA341721539 rs776030947 |
310 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA29024419 rs950641274 |
311 | K>R | No |
ClinGen Ensembl |
|
|
rs1278476764 CA341721492 |
314 | L>R | No |
ClinGen TOPMed |
|
|
CA1017936 rs772565753 |
316 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341721455 rs138297010 |
317 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376972292 CA1017933 |
318 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1017934 rs779569231 |
318 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA341721441 rs374174134 |
319 | F>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs923403733 CA29024390 |
320 | D>A | No |
ClinGen Ensembl |
|
|
rs745574119 CA1017932 |
321 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1017931 rs549305784 |
321 | R>H | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA341721430 rs549305784 |
321 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751393469 CA1017930 |
323 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA1017929 rs751393469 |
323 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA341721419 rs1171285997 |
323 | S>Y | No |
ClinGen TOPMed |
|
|
rs117771236 CA1017928 |
324 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1017927 rs200072587 |
324 | R>H | Variant assessed as Somatic; 0.002356 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA1017926 rs752738830 |
325 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA1017924 rs759516642 |
327 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1466284402 CA341721372 |
328 | I>T | No |
ClinGen TOPMed |
|
|
rs1249203502 CA341721351 |
330 | E>G | No |
ClinGen gnomAD |
|
|
rs766586844 CA1017922 |
330 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA341721334 rs1571887675 |
331 | V>G | No |
ClinGen Ensembl |
|
|
rs773509835 CA1017920 |
333 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772480599 CA1017919 |
336 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA341721275 rs1321168305 |
336 | L>H | No |
ClinGen TOPMed |
|
|
CA1017918 rs376788803 |
337 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1017917 rs372391666 |
338 | E>* | No |
ClinGen ESP ExAC |
|
| TCGA novel | 338 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341721244 rs1225911894 |
339 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1344157308 CA341721239 |
339 | A>V | No |
ClinGen gnomAD |
|
|
rs1233609444 CA341721233 |
340 | S>A | No |
ClinGen gnomAD |
|
|
CA341721216 rs1340448454 |
341 | D>E | No |
ClinGen gnomAD |
|
|
CA1017914 rs190665621 |
344 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1017915 rs745356607 |
344 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354166926 CA341721155 |
347 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201016097 CA1017911 |
348 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA29024288 rs534003664 |
349 | W>* | No |
ClinGen Ensembl |
|
|
CA1017910 rs367659894 |
351 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1017909 rs367659894 |
351 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1017907 rs755155836 |
352 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1017906 rs753851590 |
353 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs564500635 CA29024242 |
354 | Y>C | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 355 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1017905 rs766603296 |
355 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs145039274 CA1017904 |
357 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1017903 rs750818884 |
357 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA1017885 rs767620686 |
358 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA341717380 rs1292986717 |
358 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA1017883 rs778968174 |
360 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453729694 CA341717356 |
361 | D>A | No |
ClinGen gnomAD |
|
|
rs1458484662 CA341717334 |
364 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA1017882 rs764672894 |
364 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1412261814 CA341717302 |
369 | L>I | No |
ClinGen gnomAD |
|
|
rs771229377 CA1017881 |
370 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs766024140 CA1017879 |
372 | L>P | No |
ClinGen ExAC |
|
|
CA1017876 rs771560191 |
378 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA341717236 rs1246257346 |
379 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA341717227 rs1330027358 |
381 | T>I | No |
ClinGen gnomAD |
|
|
rs747991912 CA1017875 |
381 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA1017873 rs768613392 |
382 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244374226 CA341717223 |
382 | V>L | No |
ClinGen TOPMed |
|
|
rs745931024 CA1017869 |
386 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374176925 CA1017870 |
386 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 388 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1017867 rs757361800 |
390 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1369961301 CA341717162 |
391 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1456109852 CA341717165 |
391 | M>V | No |
ClinGen gnomAD |
|
|
rs1165298016 CA341717157 |
392 | D>N | No |
ClinGen gnomAD |
|
|
rs778239423 CA1017865 |
393 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1396954290 CA341717148 |
393 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 394 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341717127 rs370807848 |
396 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1017863 rs370807848 |
396 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341717124 rs1435715187 |
397 | S>P | No |
ClinGen TOPMed |
|
|
rs1197189357 CA341715839 |
401 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1017842 rs749981191 |
403 | V>A | No |
ClinGen ExAC |
|
|
CA341715807 rs1361466798 |
403 | V>L | No |
ClinGen TOPMed |
|
|
rs889443495 CA28997364 |
405 | L>* | No |
ClinGen Ensembl |
|
|
CA1017839 rs751271416 |
407 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA1017837 rs762741956 |
410 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1017838 rs200088199 |
410 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1170837245 CA341715717 |
411 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs775205575 CA1017836 |
411 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA1017835 rs769744385 |
411 | R>S | No |
ClinGen ExAC |
|
| TCGA novel | 415 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1017832 rs770961129 |
416 | K>E | No |
ClinGen ExAC |
|
|
CA1017831 rs551632114 |
419 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs551632114 CA28997319 |
419 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA28997314 rs201961031 |
420 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 422 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1017830 rs773576074 |
424 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341715522 rs1442287176 |
427 | V>L | No |
ClinGen gnomAD |
|
|
rs772366530 CA1017829 |
429 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346470395 CA341715446 |
432 | I>T | No |
ClinGen gnomAD |
|
|
rs1310887415 CA341715452 |
432 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA341715429 rs1263280869 |
433 | I>M | No |
ClinGen gnomAD |
|
|
rs1300755869 CA341715419 |
434 | F>C | No |
ClinGen gnomAD |
|
|
rs1051262035 CA341715413 |
435 | D>N | No |
ClinGen TOPMed |
|
|
CA28997302 rs1051262035 |
435 | D>Y | No |
ClinGen TOPMed |
|
|
CA28997299 rs867514138 |
437 | P>S | No |
ClinGen Ensembl |
|
|
CA1017826 rs200649940 |
438 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341715374 rs200649940 |
438 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1557731023 | 438 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779383865 CA1017827 |
438 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1017823 rs756784538 |
441 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA1017822 rs751002681 |
444 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA1017820 rs757994972 |
447 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA341715259 rs1402984095 |
448 | I>V | No |
ClinGen gnomAD |
|
|
rs953213849 CA28997243 |
449 | S>L | No |
ClinGen TOPMed |
|
|
CA28997239 rs773143623 |
451 | M>T | No |
ClinGen Ensembl |
|
|
CA341715192 rs1373524594 |
453 | Y>C | No |
ClinGen gnomAD |
|
|
CA28997230 rs149899868 |
455 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA341715165 rs752518998 |
455 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752518998 CA1017819 |
455 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1017800 rs754792159 |
459 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1017799 rs753615074 |
460 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs555279971 CA1017798 |
461 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760652485 CA1017797 |
462 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA29017540 rs943865498 |
462 | I>T | No |
ClinGen Ensembl |
|
|
rs1348367286 CA341722823 |
463 | G>A | No |
ClinGen gnomAD |
|
|
CA29017539 rs999442501 |
465 | C>G | No |
ClinGen TOPMed |
|
|
CA1017796 rs150717431 |
466 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1017795 rs148168972 |
466 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341722739 rs1281755576 |
467 | V>E | No |
ClinGen TOPMed |
|
|
rs761973499 CA1017794 |
468 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA341722720 rs1370445205 |
468 | G>W | No |
ClinGen gnomAD |
|
|
rs1391477453 CA341722686 |
469 | I>T | No |
ClinGen gnomAD |
|
|
rs1186597433 CA341722658 |
471 | A>V | No |
ClinGen gnomAD |
|
|
rs763240286 CA1017791 |
474 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 476 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775874924 CA1017790 |
480 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA1017787 rs370048571 |
481 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1017788 rs370048571 |
481 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771626746 CA1017786 |
482 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1017785 rs747649131 |
485 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA1017784 rs201418447 |
486 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs181310527 CA1017781 |
487 | R>Q | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs753611915 CA1017783 |
487 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341722270 rs1276865065 |
488 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 488 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1405824591 CA341722193 |
490 | I>T | No |
ClinGen gnomAD |
|
|
rs1350182329 CA341722199 |
490 | I>V | No |
ClinGen gnomAD |
|
|
rs767558303 CA1017779 |
492 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA341722011 rs1355637687 |
496 | L>F | No |
ClinGen gnomAD |
|
|
rs761989852 CA1017778 |
497 | V>G | No |
ClinGen ExAC TOPMed |
|
|
CA341722009 rs1571815658 |
497 | V>M | No |
ClinGen Ensembl |
|
|
CA1017776 rs764244920 |
499 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1571815615 CA341721811 |
505 | E>* | No |
ClinGen Ensembl |
|
|
CA341720964 rs1328692408 |
506 | G>V | No |
ClinGen gnomAD |
|
|
CA341720959 rs1266501111 |
507 | N>S | No |
ClinGen gnomAD |
|
|
rs538699584 CA29015262 |
508 | P>T | No |
ClinGen 1000Genomes |
|
|
rs200158005 CA1017755 |
509 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200158005 CA1017756 |
509 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201785218 CA1017757 |
509 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368421482 CA29015240 |
510 | L>F | No |
ClinGen ESP TOPMed gnomAD |
No associated diseases with Q5T7P8
6 regional properties for Q5T7P8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | C2 domain | 229 - 350 | IPR000008-1 |
| domain | C2 domain | 361 - 494 | IPR000008-2 |
| domain | Synaptotagmin | 233 - 248 | IPR001565-1 |
| domain | Synaptotagmin | 248 - 261 | IPR001565-2 |
| domain | Synaptotagmin | 303 - 318 | IPR001565-3 |
| domain | Synaptotagmin | 323 - 333 | IPR001565-4 |
8 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. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
| extrinsic component of membrane | The component of a membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| perinuclear endoplasmic reticulum | The portion of endoplasmic reticulum, the intracellular network of tubules and cisternae, that occurs near the nucleus. The lumen of the perinuclear endoplasmic reticulum is contiguous with the nuclear envelope lumen (also called perinuclear space), the region between the inner and outer nuclear membranes. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| synaptic vesicle membrane | The lipid bilayer surrounding a synaptic vesicle. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| clathrin binding | Binding to a clathrin heavy or light chain, the main components of the coat of coated vesicles and coated pits, and which also occurs in synaptic vesicles. |
| phosphatidylserine binding | Binding to phosphatidylserine, a class of glycophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of L-serine. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| SNARE binding | Binding to a SNARE (soluble N-ethylmaleimide-sensitive factor attached protein receptor) protein. |
| syntaxin binding | Binding to a syntaxin, a SNAP receptor involved in the docking of synaptic vesicles at the presynaptic zone of a synapse. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| acrosomal vesicle exocytosis | The calcium ion regulated exocytosis which results in fusion of the acrosomal vesicle with the plasma membrane of the sperm as part of the acrosome reaction. |
| calcium-ion regulated exocytosis | The release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle by fusion of the vesicle with the plasma membrane of a cell, induced by a rise in cytosolic calcium-ion levels. |
| cellular response to calcium ion | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus. |
| regulation of calcium ion-dependent exocytosis | Any process that modulates the frequency, rate or extent of calcium ion-dependent exocytosis. |
| regulation of dopamine secretion | Any process that modulates the frequency, rate or extent of the regulated release of dopamine. |
| vesicle-mediated transport | A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. |
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 |
| Q86XP0 | PLA2G4D | Cytosolic phospholipase A2 delta | Homo sapiens (Human) | PR |
| Q9HCH5 | SYTL2 | Synaptotagmin-like protein 2 | Homo sapiens (Human) | PR |
| Q96C24 | SYTL4 | Synaptotagmin-like protein 4 | Homo sapiens (Human) | PR |
| Q8N9U0 | TC2N | Tandem C2 domains nuclear protein | Homo sapiens (Human) | PR |
| Q8TDW5 | SYTL5 | Synaptotagmin-like protein 5 | Homo sapiens (Human) | PR |
| Q8IYJ3 | SYTL1 | Synaptotagmin-like protein 1 | Homo sapiens (Human) | PR |
| Q9BQG1 | SYT3 | Synaptotagmin-3 | Homo sapiens (Human) | PR |
| Q86SS6 | SYT9 | Synaptotagmin-9 | Homo sapiens (Human) | PR |
| O00445 | SYT5 | Synaptotagmin-5 | Homo sapiens (Human) | PR |
| P21579 | SYT1 | Synaptotagmin-1 | Homo sapiens (Human) | PR |
| Q9BT88 | SYT11 | Synaptotagmin-11 | Homo sapiens (Human) | PR |
| Q9H2B2 | SYT4 | Synaptotagmin-4 | Homo sapiens (Human) | PR |
| O43581 | SYT7 | Synaptotagmin-7 | Homo sapiens (Human) | PR |
| Q9BQS2 | SYT15 | Synaptotagmin-15 | Homo sapiens (Human) | PR |
| Q7L8C5 | SYT13 | Synaptotagmin-13 | Homo sapiens (Human) | PR |
| Q6XYQ8 | SYT10 | Synaptotagmin-10 | 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 |
| Q9R0Q1 | Sytl4 | Synaptotagmin-like protein 4 | Mus musculus (Mouse) | PR |
| Q8C6N3 | Syt15 | Synaptotagmin-15 | Mus musculus (Mouse) | PR |
| Q920N7 | Syt12 | Synaptotagmin-12 | Mus musculus (Mouse) | PR |
| Q80T23 | Sytl5 | Synaptotagmin-like protein 5 | Mus musculus (Mouse) | PR |
| Q9R0N5 | Syt5 | Synaptotagmin-5 | Mus musculus (Mouse) | PR |
| Q9R0N9 | Syt9 | Synaptotagmin-9 | 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 |
| Q9R0N8 | Syt6 | Synaptotagmin-6 | 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 |
| 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 |
| Q62746 | Syt6 | Synaptotagmin-6 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSGVWGAGGP | RCQEALAVLA | SLCRARPPPL | GLDVETCRSF | ELQPPERSPS | AAGAGTSVSL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LAVVVIVCGV | ALVAVFLFLF | WKLCWMPWRN | KEASSPSSAN | PPLEALQSPS | FRGNMADKLK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DPSTLGFLEA | AVKISHTSPD | IPAEVQMSVK | EHIMRHTRLQ | RQTTEPASST | RHTSFKRHLP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RQMHVSSVDY | GNELPPAAEQ | PTSIGRIKPE | LYKQKSVDGE | DAKSEATKSC | GKINFSLRYD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YETETLIVRI | LKAFDLPAKD | FCGSSDPYVK | IYLLPDRKCK | LQTRVHRKTL | NPTFDENFHF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PVPYEELADR | KLHLSVFDFD | RFSRHDMIGE | VILDNLFEAS | DLSRETSIWK | DIQYATSESV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DLGEIMFSLC | YLPTAGRLTL | TVIKCRNLKA | MDITGYSDPY | VKVSLLCDGR | RLKKKKTTIK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KNTLNPVYNE | AIIFDIPPEN | MDQVSLLISV | MDYDRVGHNE | IIGVCRVGIT | AEGLGRDHWN |
| 490 | 500 | ||||
| EMLAYPRKPI | AHWHSLVEVK | KSFKEGNPRL |