Q9BQG1
Gene name |
SYT3 |
Protein name |
Synaptotagmin-3 |
Names |
Synaptotagmin III, SytIII |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84258 |
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 Q9BQG1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BQG1-F1 | Predicted | AlphaFoldDB |
445 variants for Q9BQG1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1032771141 CA309638414 |
4 | D>H | No |
ClinGen Ensembl |
|
|
rs144585182 CA309638396 |
6 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
rs1021019460 CA309638401 |
6 | E>K | No |
ClinGen TOPMed |
|
|
rs768504157 CA9600688 |
11 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140892148 CA9600689 |
11 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9600686 rs779832436 |
12 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9600687 rs746751712 |
12 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1599821023 COSM1526030 CA407002283 |
15 | I>M | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1008512890 CA309638319 |
15 | I>T | No |
ClinGen Ensembl |
|
|
rs746144697 CA9600684 |
15 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs757397160 CA407002250 |
18 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs757397160 CA9600682 |
18 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA9600680 rs778291990 |
20 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9600677 rs768053715 |
22 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs534235847 CA407002193 |
23 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9600674 rs534235847 |
23 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9600675 rs145561187 |
23 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761342827 CA9600673 |
25 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs776020631 CA9600672 |
25 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1338365677 CA407002147 |
27 | A>V | No |
ClinGen gnomAD |
|
|
CA407002122 rs1297547307 |
30 | N>S | No |
ClinGen gnomAD |
|
|
rs754832010 COSM233532 CA9600670 |
31 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM223998 rs866625534 CA309638225 |
32 | R>K | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA309638219 rs920052786 |
32 | R>S | No |
ClinGen Ensembl |
|
|
CA407002059 rs1170440958 |
35 | E>D | No |
ClinGen gnomAD |
|
|
rs775250339 CA9600669 |
36 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1423585714 CA407002042 |
36 | F>L | No |
ClinGen TOPMed |
|
|
rs1038465741 CA309638178 |
39 | R>* | No |
ClinGen gnomAD |
|
|
rs373338775 CA9600668 |
39 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA309638173 rs927327465 |
41 | R>* | No |
ClinGen TOPMed |
|
|
rs929145527 CA309638171 |
41 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1453047793 CA407001979 |
42 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1568417379 CA407001951 |
44 | P>L | No |
ClinGen Ensembl |
|
|
CA407001949 rs1194584617 |
45 | R>G | No |
ClinGen gnomAD |
|
|
rs746056284 CA9600667 COSM1228338 |
45 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA407001922 rs1254596826 |
47 | P>R | No |
ClinGen gnomAD |
|
|
rs1444217136 CA407000596 |
53 | V>M | No |
ClinGen gnomAD |
|
|
rs1398842545 CA407000561 |
55 | L>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA309635834 rs770034923 |
56 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770034923 CA9600643 |
56 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568416291 COSM418101 CA407000528 |
57 | S>L | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1445605414 CA407000502 |
60 | V>M | No |
ClinGen gnomAD |
|
|
rs1387545180 CA407000485 |
62 | F>L | No |
ClinGen gnomAD |
|
|
rs1439327875 CA407000443 |
66 | V>F | No |
ClinGen gnomAD |
|
|
CA407000409 rs1395942955 |
69 | G>D | No |
ClinGen TOPMed |
|
|
CA9600638 rs371879019 |
73 | F>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs753480602 CA9600636 COSM999771 |
74 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1395772407 CA407000348 |
75 | S>F | No |
ClinGen gnomAD |
|
|
rs773513926 CA9600635 |
81 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17852897 CA309635809 |
82 | P>H | No |
ClinGen Ensembl |
|
|
COSM3787759 CA9600633 rs752224916 |
84 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA309635797 COSM3773114 rs185774466 |
84 | R>W | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA9600632 rs767384227 |
85 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA407000227 rs1347667934 |
87 | G>E | No |
ClinGen gnomAD |
|
|
CA407000221 rs202245277 |
88 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759472318 CA9600631 |
88 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA9600630 rs202245277 |
88 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9600629 rs766137464 |
89 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599818552 CA407000206 |
90 | A>T | No |
ClinGen Ensembl |
|
|
rs1483230503 CA407000200 |
91 | V>M | No |
ClinGen TOPMed |
|
|
rs763204858 CA9600628 |
92 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA407000193 rs1193059710 |
92 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9600625 rs748185607 |
93 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs770163135 CA9600626 |
93 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs765263349 | 96 | L>C | Variant assessed as Somatic; 0.000135 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769285279 CA9600622 |
97 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781302664 CA9600621 COSM1228340 |
97 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1465983426 CA407000141 |
98 | K>Q | No |
ClinGen TOPMed |
|
|
CA9600620 rs780441588 |
99 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA9600619 rs758727682 |
101 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1021057468 CA309635742 |
101 | G>S | No |
ClinGen Ensembl |
|
|
rs1171296188 CA407000090 |
103 | G>D | No |
ClinGen TOPMed |
|
|
rs145378162 CA9600616 |
105 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752134579 CA9600615 |
106 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407000059 rs1347967152 |
107 | A>T | No |
ClinGen gnomAD |
|
|
rs1296927555 CA407000053 |
107 | A>V | No |
ClinGen gnomAD |
|
|
rs1346222867 CA407000027 |
110 | V>L | No |
ClinGen gnomAD |
|
|
CA9600612 rs751492794 |
112 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766373341 CA9600611 |
113 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA406999966 rs1446549971 |
114 | G>E | No |
ClinGen Ensembl |
|
|
CA9600610 rs762608374 |
114 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 116 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406999925 rs1220505161 |
116 | H>Q | No |
ClinGen gnomAD |
|
|
rs750248893 CA9600609 |
117 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs765491405 COSM1228341 CA9600608 |
118 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA406999890 rs1269265874 |
119 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA309635709 rs919878717 |
122 | G>R | No |
ClinGen TOPMed |
|
|
rs372144881 CA309635705 |
123 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs761209975 CA9600604 |
125 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747211137 COSM1724659 CA9600600 |
129 | G>S | NS [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1450635556 CA406999702 |
130 | P>L | No |
ClinGen TOPMed |
|
|
rs1291014341 CA406999689 |
131 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs769431324 CA9600598 |
133 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs780650624 CA9600597 |
134 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA9600596 rs780650624 |
134 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs370189724 CA9600595 |
135 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs868648216 CA309635666 |
136 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9600593 rs193002389 |
137 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406999540 rs1427860395 |
138 | H>R | No |
ClinGen gnomAD |
|
|
CA406999493 rs1419900902 |
140 | P>L | No |
ClinGen gnomAD |
|
|
rs1599818324 CA406999466 |
142 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 144 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406999424 rs1188082587 |
144 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9600591 rs147608314 |
147 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758364283 CA9600592 |
147 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309635649 rs1018064840 |
148 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA406999329 rs1462267700 |
149 | G>R | No |
ClinGen gnomAD |
|
|
rs1255615446 CA406999299 |
150 | S>I | No |
ClinGen gnomAD |
|
|
rs762108460 CA9600590 |
152 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA9600589 rs762108460 |
152 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs754150487 CA9600588 |
153 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406999227 rs1365912161 |
153 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA406999207 rs1382570240 |
154 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA406999208 rs1382570240 |
154 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs139241700 CA9600586 |
156 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406999159 rs1599818298 |
156 | T>P | No |
ClinGen Ensembl |
|
|
rs1398127746 CA406999132 |
157 | P>S | No |
ClinGen gnomAD |
|
|
CA9600583 rs760153559 |
158 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 163 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9600580 rs749685489 |
164 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1172506040 CA406998992 |
164 | M>T | No |
ClinGen gnomAD |
|
|
rs1031155261 CA309635609 |
164 | M>V | No |
ClinGen TOPMed |
|
|
rs553969864 CA9600579 |
165 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs553969864 CA406998975 |
165 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9600577 rs746441568 |
166 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs768369027 CA9600578 |
166 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA309635594 rs746441568 |
166 | S>W | No |
ClinGen ExAC gnomAD |
|
|
rs1235775840 CA406998942 |
167 | Y>H | No |
ClinGen gnomAD |
|
|
CA9600576 rs779684367 |
168 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406998863 rs1417857374 |
170 | A>G | No |
ClinGen TOPMed |
|
|
CA406998832 rs778815816 |
172 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs367963156 CA9600574 |
172 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9600573 rs778815816 |
172 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1359084188 CA406998826 |
173 | A>T | No |
ClinGen gnomAD |
|
|
CA309635562 rs914048250 |
175 | V>A | No |
ClinGen Ensembl |
|
|
CA9600572 rs757073773 |
175 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 176 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406998747 rs141570463 |
177 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1235948 CA9600568 rs141570463 |
177 | A>T | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA9600567 rs756363150 |
177 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA406998714 rs1375690668 |
178 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1599818194 CA406998688 |
179 | V>G | No |
ClinGen Ensembl |
|
|
CA9600564 rs760013880 |
181 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs760013880 CA9600565 |
181 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1164004794 CA406998540 |
185 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA406998558 rs1364668409 |
185 | S>P | No |
ClinGen gnomAD |
|
|
CA406998480 rs1426122088 |
189 | P>S | No |
ClinGen gnomAD |
|
|
rs148772753 CA9600561 CA9600560 |
191 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9600556 rs771656522 |
192 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406998397 rs771656522 |
192 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs376869372 CA9600558 CA406998403 |
192 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9600557 rs771656522 |
192 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376869372 CA9600559 COSM72891 |
192 | G>W | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA406998380 rs1197818694 |
193 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1197818694 COSM567454 CA406998379 |
193 | G>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 194 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1047574921 CA309635517 |
195 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9600553 rs757271846 |
196 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs749021783 CA9600552 |
200 | L>Q | No |
ClinGen ExAC |
|
|
rs1240110679 CA406998217 |
201 | L>P | No |
ClinGen gnomAD |
|
|
CA406998202 rs1484519538 |
202 | P>H | No |
ClinGen TOPMed |
|
|
rs777689783 CA9600551 |
202 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1299302724 CA406998172 |
203 | P>L | No |
ClinGen gnomAD |
|
|
rs756275781 CA9600550 |
204 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs753013056 CA406998157 |
204 | S>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs753013056 CA9600549 |
204 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs751653950 CA9600546 |
210 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1599818090 CA406998019 |
210 | S>R | No |
ClinGen Ensembl |
|
|
CA9600545 rs146108083 |
211 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA309635484 rs866328089 |
212 | Q>* | No |
ClinGen Ensembl |
|
|
rs1412107395 CA406997900 |
214 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 215 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1456285800 CA406997827 |
216 | Q>H | No |
ClinGen TOPMed |
|
|
CA9600544 rs201030888 |
217 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406997814 rs1599818069 |
217 | V>G | No |
ClinGen Ensembl |
|
|
rs773437586 CA406997747 |
222 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs773437586 CA9600543 |
222 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA9600542 rs765686951 |
223 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760217677 CA9600541 |
225 | R>K | No |
ClinGen ExAC gnomAD |
|
|
RCV000889136 rs188199665 CA9600512 |
226 | Y>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1383854505 CA406996642 |
227 | P>T | No |
ClinGen gnomAD |
|
|
rs577362591 CA406996630 |
228 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs577362591 CA9600511 |
228 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780081190 CA9600510 |
229 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1235455746 CA406996614 |
230 | P>L | No |
ClinGen TOPMed |
|
|
rs371022999 CA9600509 |
230 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750487782 CA9600508 |
231 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757705902 CA9600507 |
231 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA9600506 rs757705902 |
231 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9600505 rs754223325 |
232 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1310072033 CA406996592 |
233 | L>H | No |
ClinGen TOPMed |
|
|
CA406996582 rs1289336155 |
234 | T>I | No |
ClinGen gnomAD |
|
|
rs1599816713 CA406996586 |
234 | T>P | No |
ClinGen Ensembl |
|
|
CA406996573 rs1383115817 |
235 | Q>R | No |
ClinGen gnomAD |
|
|
rs1285637910 CA406996556 |
236 | Q>H | No |
ClinGen gnomAD |
|
|
rs1479333889 CA406996546 |
237 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 238 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1439368216 CA406996543 |
238 | L>V | No |
ClinGen gnomAD |
|
|
rs1599816689 CA406996535 |
239 | T>P | No |
ClinGen Ensembl |
|
|
rs751297126 CA9600502 |
242 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs766161130 CA9600501 |
242 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 243 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9600500 rs762468525 |
244 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176654650 CA406996470 |
245 | S>N | No |
ClinGen TOPMed |
|
|
CA406996466 rs1425729136 |
245 | S>R | No |
ClinGen gnomAD |
|
|
rs772603261 CA9600499 |
248 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs761715733 CA9600497 |
249 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200843293 CA9600498 |
249 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9600495 rs768482342 |
250 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1221422109 CA406996404 |
251 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA309633979 rs922804895 |
251 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs922804895 CA406996411 |
251 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA406996395 rs1291562334 |
252 | A>V | No |
ClinGen gnomAD |
|
|
CA406996392 rs1349259181 |
253 | L>M | No |
ClinGen gnomAD |
|
|
CA406996388 rs1465141646 |
253 | L>P | No |
ClinGen TOPMed |
|
|
rs138564908 CA9600492 |
255 | L>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA406996359 rs1599816579 |
256 | P>R | No |
ClinGen Ensembl |
|
|
CA406996363 rs1412169854 |
256 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 256 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs980164528 CA309633915 |
258 | P>A | No |
ClinGen Ensembl |
|
|
rs1442188615 CA406996336 |
259 | G>R | No |
ClinGen TOPMed |
|
|
rs989503467 CA309633902 |
261 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA406996282 rs1599816541 |
263 | K>N | No |
ClinGen Ensembl |
|
|
rs749807070 CA9600487 |
266 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1306455055 CA406996246 |
267 | I>T | No |
ClinGen TOPMed |
|
|
rs778249706 CA9600486 |
267 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1427089383 CA406996229 |
269 | Q>K | No |
ClinGen gnomAD |
|
|
CA406996226 rs1198677176 |
269 | Q>R | No |
ClinGen gnomAD |
|
|
rs1196184200 CA406996208 |
271 | K>T | No |
ClinGen TOPMed |
|
|
rs756505974 CA9600485 |
276 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA9600482 CA9600483 rs758055177 |
277 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1446090928 CA406996144 |
281 | G>C | No |
ClinGen gnomAD |
|
|
rs373678232 CA406996132 |
283 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9600481 COSM1744509 rs373678232 |
283 | R>Q | biliary_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA406996133 rs1229670779 |
283 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA9600480 rs764704614 |
284 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420472277 CA406996113 |
286 | G>S | No |
ClinGen TOPMed |
|
|
rs764044903 CA9600476 |
288 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA406996091 rs150387707 |
288 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150387707 CA9600477 |
288 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1468288601 CA406996075 |
289 | P>L | No |
ClinGen gnomAD |
|
|
rs760400344 CA9600475 |
292 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA406996042 rs1568763316 |
293 | E>Q | No |
ClinGen Ensembl |
|
|
rs1175540038 CA406995992 |
297 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 298 | A>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9600474 rs775265173 |
298 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA309633829 rs971804881 |
300 | C>R | No |
ClinGen Ensembl |
|
|
CA406995957 rs1184597967 |
301 | G>S | No |
ClinGen gnomAD |
|
|
rs1474986921 CA406995944 |
302 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs772331102 CA406995942 |
302 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9600472 rs772331102 |
302 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA406995927 rs1348456734 |
303 | I>M | No |
ClinGen TOPMed |
|
|
rs746131765 CA406995800 |
305 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs770954912 CA9600469 |
306 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs140350128 CA9600470 |
306 | A>T | No |
ClinGen ESP ExAC |
|
| TCGA novel | 307 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778375950 CA406995788 |
308 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA9600467 COSM247684 rs778375950 |
308 | R>Q | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA9600468 COSM999769 rs749409227 |
308 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA406995769 rs1294108334 |
311 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 312 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756693870 CA9600466 |
313 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1014261692 CA309633763 |
314 | D>A | No |
ClinGen Ensembl |
|
|
CA406995729 rs1337500031 |
317 | V>G | No |
ClinGen gnomAD |
|
|
rs1405371056 CA406995734 |
317 | V>M | No |
ClinGen gnomAD |
|
|
rs764975315 CA9600461 |
319 | R>K | No |
ClinGen ExAC TOPMed |
|
|
rs1409146403 CA406995696 |
323 | A>T | No |
ClinGen gnomAD |
|
|
rs866347364 CA309633741 |
324 | L>P | No |
ClinGen Ensembl |
|
|
rs1599816327 CA406995684 |
325 | D>A | No |
ClinGen Ensembl |
|
|
rs756676284 CA9600460 |
325 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406995666 rs763948624 |
328 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA9600458 rs763948624 |
328 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 329 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406995653 rs1241943477 |
330 | D>H | No |
ClinGen gnomAD |
|
|
rs1483975806 CA406995645 |
331 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA9600456 rs775248622 |
332 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA9600454 rs147829151 |
333 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375171876 CA9600452 |
339 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1402866963 CA406995575 |
341 | I>T | No |
ClinGen TOPMed |
|
|
rs943153850 CA309633673 |
342 | Y>H | No |
ClinGen Ensembl |
|
|
CA9600448 rs370714728 |
347 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA406995538 rs370714728 |
347 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770412233 CA9600449 |
347 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs768865820 CA9600446 |
352 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1221616929 CA406995456 |
357 | R>K | No |
ClinGen gnomAD |
|
|
CA309633313 rs142151643 |
363 | V>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9600419 rs142151643 |
363 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA406995368 rs1165629855 |
365 | N>S | No |
ClinGen TOPMed |
|
|
CA9600418 rs751298710 |
367 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 370 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9600416 rs763235130 |
371 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA406995308 rs1219443490 |
372 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs750630684 CA9600415 |
373 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406995293 rs1297697723 |
374 | L>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 375 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406995290 rs1346426570 |
375 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs993194151 CA309633296 |
375 | A>V | No |
ClinGen Ensembl |
|
|
rs375139764 CA406995287 |
376 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9600414 rs375139764 |
376 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406995271 rs1321633975 |
378 | A>G | No |
ClinGen TOPMed |
|
|
CA309633282 rs866886368 |
380 | R>C | No |
ClinGen Ensembl |
|
|
rs761922692 CA9600413 |
380 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA309633274 rs1037325536 |
382 | L>R | No |
ClinGen Ensembl |
|
|
CA406995228 rs1568762773 |
385 | S>G | No |
ClinGen Ensembl |
|
|
CA309633264 rs200694411 |
385 | S>N | No |
ClinGen Ensembl |
|
|
CA406995221 rs200430574 |
386 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200430574 CA9600410 |
386 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772468572 CA9600408 |
387 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA9600407 rs372317846 |
388 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA309633245 rs372317846 |
388 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9600406 rs772803460 |
391 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9600405 rs769451420 |
391 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 394 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3423017 rs754849075 CA9600402 |
394 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9600403 rs780811810 |
394 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 396 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780170593 CA9600400 |
398 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs765485144 CA9600397 |
400 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA406995109 rs1451587607 |
404 | D>N | No |
ClinGen gnomAD |
|
|
rs1005935891 CA309633141 |
406 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA406995091 rs1343125226 |
406 | L>P | No |
ClinGen Ensembl |
|
|
rs764287285 CA9600394 |
407 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs759838070 CA9600390 |
411 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA406995065 rs1273671821 |
411 | E>K | No |
ClinGen gnomAD |
|
|
rs1379098638 CA406995047 |
413 | P>S | No |
ClinGen TOPMed |
|
|
CA406995042 rs1394747697 |
414 | P>T | No |
ClinGen TOPMed |
|
|
rs1599815603 CA406995025 |
415 | D>A | No |
ClinGen Ensembl |
|
|
rs769432992 CA9600388 |
416 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs368534907 CA9600387 |
416 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9600385 rs768170643 |
417 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9600386 rs768170643 |
417 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309633105 rs768170643 |
417 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406995007 rs1340623771 |
417 | P>T | No |
ClinGen gnomAD |
|
|
rs1396167099 CA406994983 |
419 | W>R | No |
ClinGen gnomAD |
|
|
rs956103263 CA309633101 |
421 | D>G | No |
ClinGen Ensembl |
|
|
CA309633092 rs796357681 |
423 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1383598574 CA406994921 |
424 | E>V | No |
ClinGen gnomAD |
|
|
rs745650170 CA9600381 |
426 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1239295358 CA406994885 |
427 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 428 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA309630685 rs866261528 |
428 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1432667529 CA406993936 |
430 | A>T | No |
ClinGen TOPMed |
|
|
rs1289191090 CA406993879 |
434 | E>D | No |
ClinGen TOPMed |
|
|
rs778823813 COSM418102 CA9600363 |
436 | N>S | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA309630678 rs915905376 |
440 | C>Y | No |
ClinGen TOPMed |
|
|
rs749062235 CA9600361 |
443 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs756296350 CA9600359 |
446 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1568761038 CA406993737 |
447 | R>H | No |
ClinGen Ensembl |
|
|
CA309630651 rs982169965 |
450 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9600356 rs755446640 |
451 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1463998892 CA406993655 |
454 | K>N | No |
ClinGen gnomAD |
|
|
CA406993660 rs1213299570 |
454 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1444730050 CA406993607 |
459 | K>E | No |
ClinGen TOPMed |
|
|
rs750754857 CA9600352 |
461 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA406993524 rs1411577834 |
466 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA406993502 rs1484289495 |
468 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA406993079 rs202126818 |
470 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1369584913 CA406993084 |
470 | Y>F | No |
ClinGen TOPMed |
|
|
CA406993074 rs1390345233 |
471 | V>M | No |
ClinGen gnomAD |
|
|
rs938179936 CA309630237 |
473 | A>T | No |
ClinGen Ensembl |
|
|
rs1170103035 CA406993034 |
473 | A>V | No |
ClinGen gnomAD |
|
| VAR_036389 | 474 | S>F | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
rs750782856 CA9600332 |
477 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406992957 rs1231704250 |
478 | E>A | No |
ClinGen gnomAD |
|
|
rs778886012 CA309630209 |
478 | E>K | No |
ClinGen Ensembl |
|
|
rs1568760621 CA406992939 |
479 | G>V | No |
ClinGen Ensembl |
|
|
CA9600329 rs188228927 |
480 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9600330 rs755801316 |
480 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA9600328 rs767302874 |
481 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9600327 COSM298030 rs759062700 |
481 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs945436221 CA309630180 |
482 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9600325 rs766336772 |
485 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9600323 rs773038739 |
489 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs762856222 CA9600324 |
489 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs769537404 CA9600322 |
490 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA309630141 rs936652611 |
492 | N>K | No |
ClinGen Ensembl |
|
|
CA9600320 rs747958139 |
493 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9600318 rs768869008 |
501 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9600317 COSM999765 rs747084464 |
505 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA309630099 rs376860461 |
506 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376860461 CA9600316 |
506 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs78175900 CA9600314 |
507 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs78175900 CA9600315 |
507 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 508 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs193068522 CA309630081 |
509 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
| TCGA novel | 509 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs193068522 CA9600312 |
509 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
CA406992559 rs754271371 |
511 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs754271371 CA9600311 |
511 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA309630061 rs377637160 |
514 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs377637160 CA309630073 |
514 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1350863028 CA406992521 |
515 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs754747321 CA9600309 |
519 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406992476 rs754747321 |
519 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406992466 rs1293764257 |
520 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9600305 rs374266955 |
524 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761528525 CA9600303 |
524 | D>V | No |
ClinGen ExAC |
|
|
CA9600304 rs374266955 |
524 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776473488 CA9600302 |
525 | C>S | No |
ClinGen ExAC |
|
|
rs1366824485 CA406992322 |
529 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1332760280 CA406992318 |
530 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9600286 rs199907904 |
532 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406992297 rs1304918028 |
533 | G>S | No |
ClinGen gnomAD |
|
|
CA9600285 rs753605562 |
534 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1389719687 CA406992278 |
536 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs548116502 CA9600284 |
536 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs775530017 CA9600282 |
538 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1441808369 CA406992259 |
539 | P>R | No |
ClinGen gnomAD |
|
|
CA406992252 rs1039630055 |
540 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs759469898 CA9600280 |
540 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406992250 rs1273466282 |
541 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA406992241 rs1228762739 |
542 | A>D | No |
ClinGen gnomAD |
|
|
rs1228762739 CA406992240 |
542 | A>V | No |
ClinGen gnomAD |
|
|
CA9600278 rs771552981 |
543 | D>N | No |
ClinGen ExAC gnomAD |
|
|
COSM233533 CA9600276 rs778253329 |
544 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs749859807 CA9600277 |
544 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA309629728 rs144438301 |
546 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9600274 rs144438301 |
546 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779504372 CA9600273 COSM1395514 |
547 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1599812754 CA406992213 |
547 | R>H | No |
ClinGen Ensembl |
|
|
CA406992208 rs1436968395 |
548 | E>A | No |
ClinGen TOPMed |
|
|
rs951216533 CA309629722 |
548 | E>K | No |
ClinGen Ensembl |
|
|
CA309629716 rs201612676 |
549 | H>Q | No |
ClinGen Ensembl |
|
|
rs758135430 CA9600272 |
550 | W>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 550 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs919690205 CA309629703 |
551 | A>T | No |
ClinGen Ensembl |
|
|
CA406992184 rs1162693694 |
551 | A>V | No |
ClinGen gnomAD |
|
|
CA9600271 rs569101828 |
555 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406992147 rs1368919581 |
557 | P>A | No |
ClinGen gnomAD |
|
|
rs1190070708 CA406992140 |
558 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA406992138 rs1568760212 |
558 | R>H | No |
ClinGen Ensembl |
|
|
COSM999762 rs757150838 CA9600269 |
561 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs753731210 CA9600268 |
563 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1385367396 CA406992105 |
563 | H>R | No |
ClinGen TOPMed |
|
|
CA406992107 rs1205391555 |
563 | H>Y | No |
ClinGen gnomAD |
|
|
rs760334228 CA9600266 |
567 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA9600264 rs767632801 |
568 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309629670 rs1034011323 |
568 | V>L | No |
ClinGen Ensembl |
|
|
rs1228016429 CA406991663 |
576 | F>L | No |
ClinGen gnomAD |
|
|
CA9600222 rs372064620 |
579 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372064620 CA9600221 |
579 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406991563 CA406991567 rs1226713144 |
582 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 589 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1377112676 CA406991400 |
590 | E>G | No |
ClinGen gnomAD |
|
|
CA9600218 rs760966257 |
590 | E>K | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9BQG1
7 regional properties for Q9BQG1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | C2 domain | 429 - 551 | IPR000008-1 |
| domain | C2 domain | 590 - 728 | IPR000008-2 |
| domain | Rab-binding domain | 7 - 123 | IPR010911 |
| domain | Synaptotagmin-like protein 4/5, C2A domain | 430 - 553 | IPR037303 |
| domain | FYVE-type zinc finger | 13 - 122 | IPR041282 |
| domain | Synaptotagmin-l, FYVE-related domain | 62 - 108 | IPR042783 |
| domain | Synaptotagmin-like 1-5, C2B domain | 567 - 745 | IPR043567 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| 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. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| transport vesicle membrane | The lipid bilayer surrounding a transport vesicle. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| calcium-dependent phospholipid binding | Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester, in the presence of calcium. |
| 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. |
| 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. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| 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. |
| positive regulation of dendrite extension | Any process that activates or increases the frequency, rate or extent of dendrite extension. |
| 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 |
| P21579 | SYT1 | Synaptotagmin-1 | Homo sapiens (Human) | PR |
| Q6XYQ8 | SYT10 | Synaptotagmin-10 | Homo sapiens (Human) | PR |
| Q7L8C5 | SYT13 | Synaptotagmin-13 | Homo sapiens (Human) | PR |
| Q86SS6 | SYT9 | Synaptotagmin-9 | Homo sapiens (Human) | PR |
| Q9BT88 | SYT11 | Synaptotagmin-11 | Homo sapiens (Human) | PR |
| O00445 | SYT5 | Synaptotagmin-5 | 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 |
| Q5T7P8 | SYT6 | Synaptotagmin-6 | 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 |
| 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 |
| P46097 | Syt2 | Synaptotagmin-2 | Mus musculus (Mouse) | PR |
| Q91XT6 | Tc2n | Tandem C2 domains nuclear protein | Mus musculus (Mouse) | PR |
| O35681 | Syt3 | Synaptotagmin-3 | 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 |
| Q925C0 | Syt9 | Synaptotagmin-9 | Rattus norvegicus (Rat) | PR |
| P59926 | Syt15 | Synaptotagmin-15 | Rattus norvegicus (Rat) | PR |
| P21707 | Syt1 | Synaptotagmin-1 | Rattus norvegicus (Rat) | PR |
| P40748 | Syt3 | Synaptotagmin-3 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSGDYEDDLC | RRALILVSDL | CARVRDADTN | DRCQEFNDRI | RGYPRGPDAD | ISVSLLSVIV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TFCGIVLLGV | SLFVSWKLCW | VPWRDKGGSA | VGGGPLRKDL | GPGVGLAGLV | GGGGHHLAAG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LGGHPLLGGP | HHHAHAAHHP | PFAELLEPGS | LGGSDTPEPS | YLDMDSYPEA | AAAAVAAGVK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PSQTSPELPS | EGGAGSGLLL | LPPSGGGLPS | AQSHQQVTSL | APTTRYPALP | RPLTQQTLTS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QPDPSSEERP | PALPLPLPGG | EEKAKLIGQI | KPELYQGTGP | GGRRSGGGPG | SGEAGTGAPC |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GRISFALRYL | YGSDQLVVRI | LQALDLPAKD | SNGFSDPYVK | IYLLPDRKKK | FQTKVHRKTL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NPVFNETFQF | SVPLAELAQR | KLHFSVYDFD | RFSRHDLIGQ | VVLDNLLELA | EQPPDRPLWR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DIVEGGSEKA | DLGELNFSLC | YLPTAGRLTV | TIIKASNLKA | MDLTGFSDPY | VKASLISEGR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RLKKRKTSIK | KNTLNPTYNE | ALVFDVAPES | VENVGLSIAV | VDYDCIGHNE | VIGVCRVGPD |
| 550 | 560 | 570 | 580 | ||
| AADPHGREHW | AEMLANPRKP | VEHWHQLVEE | KTVTSFTKGS | KGLSEKENSE |