Q6XYQ8
PR
Gene name |
SYT10 |
Protein name |
Synaptotagmin-10 |
Names |
Synaptotagmin X, SytX |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:341359 |
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 Q6XYQ8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6XYQ8-F1 | Predicted | AlphaFoldDB |
430 variants for Q6XYQ8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA6508749 rs748211743 |
2 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA384378154 rs1415389203 |
4 | H>R | No |
ClinGen gnomAD |
|
|
CA384378131 rs1175975435 |
7 | D>V | No |
ClinGen gnomAD |
|
|
CA6508747 rs755453396 |
8 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1265045678 CA384378104 |
11 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6508745 rs780393276 |
11 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756517811 CA6508744 |
12 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs550901250 CA6508743 |
13 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6508742 rs767105835 |
13 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA235574427 rs767105835 |
13 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1400888065 CA384378070 |
16 | A>V | No |
ClinGen TOPMed |
|
|
rs1448664581 CA384378062 |
18 | H>Y | No |
ClinGen gnomAD |
|
|
CA384378054 rs1467139439 |
19 | I>F | No |
ClinGen TOPMed |
|
|
rs751041299 CA6508740 |
20 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs1292554994 CA384378048 |
20 | V>I | No |
ClinGen gnomAD |
|
|
rs968453203 COSM431039 CA235574426 |
22 | E>K | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs367918971 CA6508739 |
25 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1315093964 CA384378013 |
25 | F>L | No |
ClinGen TOPMed |
|
|
CA6508738 rs750439224 |
26 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384378006 rs765104758 |
27 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA6508736 rs765104758 |
27 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA384377989 rs1267164831 |
29 | V>G | No |
ClinGen gnomAD |
|
|
CA6508734 rs773448127 |
29 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6508733 rs772191655 |
31 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA384377971 rs1489629713 |
32 | E>K | No |
ClinGen gnomAD |
|
|
CA384377972 rs1489629713 |
32 | E>Q | No |
ClinGen gnomAD |
|
|
rs774281724 CA6508731 |
33 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390576256 CA384377943 |
36 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 37 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757351182 CA6508729 |
39 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6508730 rs757351182 |
39 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA6508728 rs780560548 |
40 | R>P | No |
ClinGen ExAC gnomAD |
|
|
COSM1228305 rs1242285420 CA384377917 |
40 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1029862276 CA384377904 |
42 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1029862276 CA235574424 |
42 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
TCGA novel CA6508726 rs561584640 |
43 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC gnomAD NCI-TCGA |
|
rs561584640 CA6508727 |
43 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6508723 rs751290091 |
49 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs777113468 CA6508722 |
49 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384377858 rs777113468 |
49 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758034277 CA6508721 |
50 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1466482159 CA384377813 COSM233528 |
53 | S>L | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs759927350 CA6508688 |
55 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA235573348 rs112037368 |
56 | L>Q | No |
ClinGen Ensembl |
|
|
rs1165379317 CA384377778 |
59 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6508683 rs771869540 |
60 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA384377746 rs754558009 |
64 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA235573347 rs190334227 |
64 | C>G | No |
ClinGen 1000Genomes |
|
|
CA6508680 rs754558009 |
64 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs267603446 CA235573346 |
65 | G>E | No |
ClinGen Ensembl |
|
|
rs1591997409 CA384377736 |
66 | L>P | No |
ClinGen Ensembl |
|
|
CA6508677 rs750231398 |
67 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA6508676 rs750231398 |
67 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 68 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758611578 CA6508674 |
68 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs369216540 CA6508673 |
70 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147936795 CA235573345 |
72 | S>L | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 72 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759681647 CA6508671 |
80 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1427089142 CA384377623 |
83 | C>Y | No |
ClinGen TOPMed |
|
|
rs200868790 CA6508670 COSM395498 |
84 | W>* | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA235573344 rs267603445 |
86 | S>N | No |
ClinGen Ensembl |
|
|
rs766916972 CA6508669 |
87 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773702624 CA6508667 |
88 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs760893481 CA6508668 |
88 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs772632421 CA6508666 |
89 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 91 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384377562 rs1196295849 |
92 | N>K | No |
ClinGen gnomAD |
|
|
CA384377555 rs1450614283 |
93 | I>S | No |
ClinGen gnomAD |
|
|
CA6508665 rs377068491 |
95 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1565499464 CA384377523 |
98 | Q>H | No |
ClinGen Ensembl |
|
|
CA384377527 rs1487039469 |
98 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA384377519 rs1281506903 |
99 | S>N | No |
ClinGen TOPMed |
|
|
rs142624234 CA6508661 |
100 | I>N | No |
ClinGen ESP ExAC TOPMed |
|
|
CA6508660 rs372525101 |
102 | S>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA384377500 rs1356281066 |
102 | S>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA384377502 rs372525101 |
102 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6508658 rs533144504 |
104 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780930522 CA384377487 |
104 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs780930522 CA6508657 |
104 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs533144504 CA6508659 |
104 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs147756240 CA6508656 |
105 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs868136565 CA235573343 |
106 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA235573342 rs867938260 |
109 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 110 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6508655 rs752864660 |
111 | E>G | No |
ClinGen ExAC TOPMed |
|
|
rs142035623 CA6508654 CA6508653 |
113 | K>N | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA6508652 rs376740096 COSM938854 |
115 | E>* | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed |
|
rs761260104 CA6508649 |
115 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6508650 rs376740096 |
115 | E>K | No |
ClinGen ESP ExAC TOPMed |
|
|
CA6508647 rs762292552 |
116 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs773896757 CA6508648 |
116 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1477586067 CA384377395 |
118 | E>D | No |
ClinGen gnomAD |
|
|
rs768366811 CA6508644 |
118 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6508643 CA6508642 rs775060822 |
119 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA6508641 rs769223602 |
120 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA384377379 rs1476541389 |
121 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs770670362 CA6508638 |
121 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA6508640 rs745779437 |
121 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA6508637 rs185570590 |
122 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA384377372 rs1565499419 |
122 | P>L | No |
ClinGen Ensembl |
|
|
rs143923961 CA6508633 |
124 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6508634 rs143923961 |
124 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384377348 rs1217092064 |
126 | A>G | No |
ClinGen gnomAD |
|
|
CA6508632 rs780151495 |
126 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1278847391 CA384377342 |
127 | I>T | No |
ClinGen gnomAD |
|
|
rs1339924510 CA384377345 |
127 | I>V | No |
ClinGen gnomAD |
|
|
rs866619464 CA235573340 |
128 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs201984093 CA384377332 |
129 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201984093 CA6508631 |
129 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs556751685 CA6508630 |
130 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1591997278 CA384377318 |
131 | I>T | No |
ClinGen Ensembl |
|
| TCGA novel | 131 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1235603 rs1417075308 CA384377308 |
132 | K>N | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA6508628 rs757340341 |
133 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 134 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384377241 rs1463797444 |
142 | A>V | No |
ClinGen gnomAD |
|
|
rs764432913 CA6508626 |
143 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA384377233 rs1476122187 |
144 | V>F | No |
ClinGen gnomAD |
|
|
rs1410524097 CA384377227 |
145 | Q>K | No |
ClinGen TOPMed |
|
|
CA384377211 rs1187513555 |
147 | A>T | No |
ClinGen gnomAD |
|
|
rs754021131 CA6508623 |
154 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384377151 rs1565499370 |
155 | H>Y | No |
ClinGen Ensembl |
|
|
rs1591997250 CA384377141 |
156 | A>G | No |
ClinGen Ensembl |
|
|
rs149909823 CA6508621 |
157 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384377139 rs149909823 |
157 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1243658 CA6508620 rs375066285 |
157 | R>H | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA gnomAD |
|
CA6508622 rs149909823 |
157 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747010869 CA6508619 |
160 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384377094 rs1447277671 |
164 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1565499351 CA384377085 |
165 | P>A | No |
ClinGen Ensembl |
|
|
CA6508618 rs201008299 |
166 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1444325059 CA384377061 |
169 | T>N | No |
ClinGen gnomAD |
|
|
rs749504334 CA6508616 |
170 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 170 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 172 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_059826 CA6508580 rs12317722 |
172 | S>I | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA384377023 rs12317722 |
172 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA384377004 rs1346843360 |
175 | R>Q | No |
ClinGen gnomAD |
|
|
rs757393799 CA235571734 |
176 | R>S | No |
ClinGen Ensembl |
|
|
CA384376991 rs1367717401 |
177 | H>P | No |
ClinGen gnomAD |
|
|
CA384376993 rs1367717401 |
177 | H>R | No |
ClinGen gnomAD |
|
|
CA6508579 rs781385212 |
177 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1468148829 CA384376986 |
178 | L>Q | No |
ClinGen TOPMed |
|
|
rs747501420 CA6508578 |
179 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6508577 rs747501420 |
179 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291178977 CA384376967 |
181 | Q>R | No |
ClinGen gnomAD |
|
|
rs1464832403 CA384376960 |
182 | M>T | No |
ClinGen gnomAD |
|
|
rs1358999791 CA384376950 |
183 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1177045273 CA384376940 |
185 | S>P | No |
ClinGen gnomAD |
|
|
rs575116773 CA6508575 |
186 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1421744855 CA384376929 |
186 | S>R | No |
ClinGen gnomAD |
|
|
CA384376928 rs1193108834 |
187 | V>I | No |
ClinGen gnomAD |
|
|
CA6508574 rs146238189 |
188 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1478173334 CA384376920 |
188 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 189 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6508572 rs754621941 |
191 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA384376888 rs1327885032 |
192 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs765857639 CA6508570 |
193 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6508571 rs765857639 |
193 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA384376881 COSM185926 rs1204055233 |
194 | E>* | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 195 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 195 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773163721 CA6508568 |
196 | V>I | No |
ClinGen ExAC gnomAD |
|
|
COSM938849 rs761866194 CA6508566 |
199 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 199 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6508565 rs370751808 |
199 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1391645677 CA384376841 |
200 | G>E | No |
ClinGen TOPMed |
|
|
CA384376844 rs1394739294 |
200 | G>R | No |
ClinGen gnomAD |
|
|
CA384376826 rs1331446825 |
202 | T>K | No |
ClinGen TOPMed |
|
|
rs768608852 CA6508564 |
203 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6508563 rs746061282 |
203 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1454900868 CA384376820 |
204 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6508562 rs368570091 |
204 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384376817 rs368570091 |
204 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 205 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747063073 CA6508560 |
206 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA384376792 rs1374809585 |
208 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs141789630 CA6508559 |
209 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1305998150 CA384376771 |
211 | P>A | No |
ClinGen TOPMed |
|
|
CA384376759 rs1340890685 |
212 | E>D | No |
ClinGen TOPMed |
|
|
CA384376758 rs1247258633 |
213 | L>I | No |
ClinGen TOPMed |
|
|
CA384376747 rs1255369920 |
214 | Y>* | No |
ClinGen gnomAD |
|
|
CA6508558 rs754013975 |
214 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384376736 rs1174926637 |
216 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 216 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6508557 rs748758441 |
217 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6508556 rs779219152 |
218 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384376714 rs1236012302 |
219 | V>I | No |
ClinGen gnomAD |
|
|
rs755385171 CA6508555 |
223 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA384376678 rs1339493599 |
224 | N>S | No |
ClinGen gnomAD |
|
|
CA6508554 rs753443614 |
225 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs755588003 CA6508553 |
226 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs755588003 CA6508552 |
226 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs767119363 CA6508550 |
227 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs761621570 CA6508549 |
228 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs751592320 CA6508548 |
232 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 235 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384376590 rs1330952574 |
236 | N>K | No |
ClinGen gnomAD |
|
|
CA384376576 rs1398904912 |
238 | T>I | No |
ClinGen gnomAD |
|
|
CA384376571 rs1257263024 |
239 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 240 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6508546 rs762872723 |
240 | Q>R | No |
ClinGen ExAC TOPMed |
|
|
CA384376550 rs1415134220 |
242 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 244 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6508545 rs776926033 |
247 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA919058865 rs1591990221 |
248 | L>H | No |
ClinGen Ensembl |
|
|
rs1446246153 CA384376500 |
249 | V>A | No |
ClinGen gnomAD |
|
|
rs1164087767 CA384376504 |
249 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs867683225 CA235571731 |
252 | I>V | No |
ClinGen Ensembl |
|
|
CA384376475 rs1378185573 |
253 | I>S | No |
ClinGen gnomAD |
|
|
rs1177627127 CA384376466 |
254 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6508543 rs371197459 |
255 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773162851 CA6508542 |
258 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1207599321 CA384376430 |
260 | A>T | No |
ClinGen gnomAD |
|
|
CA6508541 rs376921367 |
261 | K>E | No |
ClinGen ESP ExAC TOPMed |
|
|
rs760906718 CA384376419 |
262 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA6508540 rs760906718 |
262 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 263 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779423199 CA6508539 |
263 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA6508537 rs749660933 |
265 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs750127932 CA6508534 |
268 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA384376364 rs1591990173 |
270 | Y>F | No |
ClinGen Ensembl |
|
|
CA6508532 rs370609371 |
271 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6508533 rs370609371 |
271 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 272 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751501752 CA6508531 |
272 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA384376348 rs1204435156 |
273 | M>L | No |
ClinGen TOPMed |
|
|
rs1204435156 CA384376349 |
273 | M>V | No |
ClinGen TOPMed |
|
|
rs762776606 CA6508529 |
274 | Y>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 274 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 275 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752525618 CA6508528 |
276 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs1157837006 CA384376320 |
277 | P>L | No |
ClinGen gnomAD |
|
|
rs1244119377 CA384376321 |
277 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA384376298 rs1196252191 |
280 | K>R | No |
ClinGen gnomAD |
|
|
CA384376273 rs1432109992 |
283 | F>C | No |
ClinGen gnomAD |
|
|
CA6508525 rs773533809 |
285 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs541132224 CA6508524 |
286 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1228306 rs146031713 CA6508523 |
286 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA384376254 rs146031713 |
286 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769167593 CA6508521 |
287 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763243494 CA235571728 |
288 | H>Q | No |
ClinGen Ensembl |
|
|
rs770240151 CA6508518 |
288 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM938846 rs1042570996 CA384376229 |
290 | K>N | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA384376222 rs1460713232 |
291 | T>I | No |
ClinGen gnomAD |
|
|
rs1240982781 CA384376220 |
292 | L>V | No |
ClinGen gnomAD |
|
|
rs1285347318 CA384376213 |
293 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1591990096 CA384376201 |
294 | P>L | No |
ClinGen Ensembl |
|
|
CA6508515 rs144188198 |
296 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1565495299 CA384376187 |
297 | D>H | No |
ClinGen Ensembl |
|
|
rs1317510525 CA384376153 |
301 | Q>L | No |
ClinGen gnomAD |
|
|
CA6508513 rs751127584 |
302 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs866101269 CA235571726 |
303 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs777482060 CA6508511 |
305 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1201020621 CA384376115 |
307 | D>G | No |
ClinGen gnomAD |
|
|
CA235571725 rs759382079 |
308 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs912954634 CA235571724 |
311 | N>S | No |
ClinGen TOPMed |
|
|
CA6508510 rs534242250 |
312 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752724042 CA6508509 |
312 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs754823879 CA6508507 |
317 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384376049 rs754823879 |
317 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324608484 CA384376043 |
318 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1324608484 CA384376045 |
318 | V>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 323 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1213998971 CA384375996 |
324 | F>S | No |
ClinGen TOPMed |
|
|
rs1317326393 CA384375980 |
326 | R>S | No |
ClinGen gnomAD |
|
|
CA6508504 rs767787877 |
327 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6508503 rs761826830 |
328 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1328128737 CA384375957 |
329 | M>I | No |
ClinGen gnomAD |
|
|
CA384375939 rs1332014753 |
332 | E>G | No |
ClinGen gnomAD |
|
|
CA384375935 rs1451620177 |
333 | V>L | No |
ClinGen gnomAD |
|
|
rs373995269 CA6508502 |
334 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1178095787 CA384375922 |
335 | L>V | No |
ClinGen gnomAD |
|
|
CA6508501 rs764196418 |
336 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs369857680 CA6508500 |
338 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6508499 rs148091182 |
339 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1476711663 CA384375875 |
342 | S>P | No |
ClinGen gnomAD |
|
|
rs746248442 CA6508496 |
343 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA384375868 rs1565495250 |
343 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs770010023 CA6508497 |
343 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA384375845 rs1245230357 |
346 | R>S | No |
ClinGen gnomAD |
|
|
rs776089898 CA6508495 |
347 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1437322569 CA384375833 |
348 | A>G | No |
ClinGen gnomAD |
|
|
CA384375827 rs1273888515 |
349 | T>I | No |
ClinGen gnomAD |
|
|
CA384375821 rs1297888196 |
350 | V>A | No |
ClinGen gnomAD |
|
|
rs1216393360 CA384375819 |
351 | W>R | No |
ClinGen gnomAD |
|
|
CA6508494 rs770692294 |
353 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746724273 CA6508493 |
354 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA384375782 rs1451389679 |
355 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA384375763 rs777388386 |
358 | T>I | No |
ClinGen ExAC TOPMed |
|
|
CA6508492 rs777388386 |
358 | T>S | No |
ClinGen ExAC TOPMed |
|
|
rs1477203457 CA384375738 |
360 | E>D | No |
ClinGen TOPMed |
|
|
rs771669390 CA6508473 |
360 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6508472 rs747701569 |
363 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6508471 rs778661560 |
364 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1169486906 COSM1705366 CA384375710 |
365 | G>S | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA235569974 rs1021710099 |
365 | G>V | No |
ClinGen TOPMed |
|
|
CA384375694 rs1157405096 |
367 | I>T | No |
ClinGen TOPMed |
|
|
rs1360382537 CA384375688 |
368 | M>L | No |
ClinGen TOPMed |
|
|
rs749254268 CA6508468 |
371 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6508467 rs539747309 |
372 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751735974 CA6508465 COSM3398681 |
375 | P>L | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1305410203 CA384375632 |
376 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA384375629 COSM693306 rs1433911858 |
377 | A>S | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
COSM1228308 CA6508460 rs760055492 |
379 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA235569972 rs1051673503 |
379 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA384375618 rs1051673503 |
379 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6508461 rs760055492 |
379 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1183434987 CA384375589 |
383 | T>I | No |
ClinGen gnomAD |
|
|
rs766803065 CA6508458 |
384 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1483449522 CA384375568 |
387 | C>G | No |
ClinGen gnomAD |
|
|
CA384375558 rs1177304097 |
388 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1481439815 CA384375549 |
389 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1184654135 CA384375541 |
390 | L>P | No |
ClinGen gnomAD |
|
|
CA6508455 rs149372161 |
392 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1232301462 CA384375520 COSM136887 |
393 | M>I | skin haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs773910069 CA6508453 |
394 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs768095160 CA6508452 |
395 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA384375500 rs1221148129 |
396 | T>I | No |
ClinGen TOPMed |
|
|
CA384375495 rs1202278069 |
397 | G>A | No |
ClinGen gnomAD |
|
|
COSM431038 CA384375499 rs1262092203 |
397 | G>S | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6508427 rs780932548 |
401 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA384375441 rs1462537639 |
404 | K>E | No |
ClinGen gnomAD |
|
|
CA6508426 rs770679043 |
404 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA384375420 rs1282975982 |
407 | L>P | No |
ClinGen TOPMed |
|
|
rs1442557576 CA384375406 |
409 | C>Y | No |
ClinGen gnomAD |
|
|
rs992096708 CA235569753 |
410 | E>D | No |
ClinGen TOPMed |
|
|
CA384375401 rs1384308689 |
410 | E>K | No |
ClinGen gnomAD |
|
|
rs1251003302 CA384375392 |
411 | G>D | No |
ClinGen TOPMed |
|
|
CA6508423 rs779037268 |
411 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA384375390 rs1251003302 |
411 | G>V | No |
ClinGen TOPMed |
|
|
rs201113274 CA235569752 |
412 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
rs755018918 CA6508422 |
412 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA384375384 rs749392898 |
413 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6508421 rs749392898 |
413 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384375365 rs1480650135 |
416 | K>Q | No |
ClinGen gnomAD |
|
|
rs958883852 CA235569751 |
416 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 416 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1158162226 CA384375345 |
418 | K>N | No |
ClinGen TOPMed |
|
|
rs35190376 CA6508420 |
420 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs35190376 RCV000886447 CA6508419 VAR_034529 |
420 | T>S | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1279499472 CA384375332 |
421 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1359176318 CA384375327 |
422 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs370305112 CA235569750 |
425 | T>I | No |
ClinGen ESP |
|
|
rs1394482792 CA384375301 |
425 | T>P | No |
ClinGen TOPMed |
|
|
CA6508418 rs751009713 |
426 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384375298 rs751009713 |
426 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs796651369 CA235569749 |
427 | N>K | No |
ClinGen TOPMed |
|
|
CA6508417 COSM375189 rs377514175 |
429 | V>A | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA384375279 rs1591980775 |
429 | V>L | No |
ClinGen Ensembl |
|
|
rs751155033 CA6508416 |
431 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs569206415 CA235569748 |
431 | N>S | No |
ClinGen gnomAD |
|
|
rs763663473 CA6508414 |
433 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6508413 rs762648193 |
434 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA6508412 rs774976396 |
436 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs774976396 CA384375233 |
436 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 439 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1591980749 CA384375206 |
440 | P>S | No |
ClinGen Ensembl |
|
|
CA6508408 rs770722188 COSM185918 |
443 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA384375171 rs1180583191 |
445 | Q>K | No |
ClinGen gnomAD |
|
|
CA384375165 rs1171511013 |
446 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 447 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774576203 CA6508406 |
450 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 451 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6508405 rs768749274 |
451 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6508402 rs756313907 |
452 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs780252635 CA6508403 |
452 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563264729 CA235569747 |
453 | M>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA6508399 rs543453095 |
454 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6508401 rs746333902 |
454 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA384375107 rs1281519757 |
455 | Y>F | No |
ClinGen gnomAD |
|
|
rs376456407 CA6508397 |
456 | D>N | No |
ClinGen ESP ExAC TOPMed |
|
|
CA384375095 rs1476301433 |
457 | R>G | No |
ClinGen TOPMed |
|
|
rs1372987532 CA384375078 |
457 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 459 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6508375 rs754427228 |
459 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1241555230 CA384375066 |
460 | H>N | No |
ClinGen gnomAD |
|
|
CA384375046 rs1203205556 |
462 | E>G | No |
ClinGen gnomAD |
|
|
CA235569546 rs866542712 |
465 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs753276345 CA6508374 |
465 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1489635708 CA384375021 |
466 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 466 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6508372 rs765981943 |
468 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs760501861 CA6508371 |
469 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA384374997 rs750428498 |
470 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6508370 rs750428498 |
470 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376432626 CA6508368 |
474 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770125863 CA6508366 |
478 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759867053 CA6508365 COSM1178937 |
478 | R>Q | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA384374925 COSM415879 CA6508364 rs776540776 |
481 | W>C | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs771090310 CA6508363 |
482 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA235569545 rs866874853 |
483 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1409712631 COSM258123 CA384374902 |
484 | M>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs142586141 CA6508360 |
486 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6508359 rs748526182 |
487 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs753400818 CA235569544 |
487 | Y>S | No |
ClinGen Ensembl |
|
|
VAR_034530 rs34190017 CA6508357 |
488 | H>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs34190017 CA6508358 |
488 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779412084 CA6508355 COSM938841 |
489 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs779412084 CA6508356 |
489 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM225327 CA6508354 rs755675734 |
489 | R>Q | Variant assessed as Somatic; 0.0 impact. NS pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA384374864 rs1565489719 |
491 | P>L | No |
ClinGen Ensembl |
|
|
CA6508352 rs755755759 |
492 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6508351 rs545012156 COSM241826 |
493 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6508349 rs150924840 |
494 | H>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM547986 rs776932613 CA6508347 |
500 | E>D | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1412702720 CA384378309 |
503 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1458604144 CA384378311 |
503 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6508333 rs757226920 |
504 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6508334 rs368560005 |
504 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs34361405 CA384378300 |
505 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6508332 rs34361405 COSM247681 VAR_034531 RCV000970244 |
505 | A>V | biliary_tract prostate [Cosmic] | No |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1157373078 CA384378295 |
506 | T>N | No |
ClinGen gnomAD |
|
|
CA6508329 rs139188967 |
508 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 509 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6508328 rs766638845 |
510 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs998338431 CA235569306 |
512 | G>A | No |
ClinGen TOPMed |
|
|
rs1018691002 CA235569304 |
513 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1479475917 CA384378231 |
515 | P>L | No |
ClinGen gnomAD |
|
|
CA6508327 rs200421519 |
517 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1198525865 CA384378222 |
517 | P>R | No |
ClinGen gnomAD |
|
|
CA235569303 rs200421519 |
517 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762289256 CA6508324 |
519 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs762289256 CA6508325 |
519 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs201820175 CA384378211 |
519 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6508326 rs201820175 COSM547988 |
519 | P>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs774863954 CA6508323 |
520 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA235569302 rs886110675 |
521 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA384378196 rs1286980525 |
522 | T>I | No |
ClinGen TOPMed |
No associated diseases with Q6XYQ8
6 regional properties for Q6XYQ8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | C2 domain | 231 - 352 | IPR000008-1 |
| domain | C2 domain | 363 - 496 | IPR000008-2 |
| domain | Synaptotagmin | 235 - 250 | IPR001565-1 |
| domain | Synaptotagmin | 250 - 263 | IPR001565-2 |
| domain | Synaptotagmin | 305 - 320 | IPR001565-3 |
| domain | Synaptotagmin | 325 - 335 | IPR001565-4 |
Functions
5 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. |
| 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. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
| transport vesicle membrane | The lipid bilayer surrounding a transport vesicle. |
9 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. |
| phosphatidylinositol-4,5-bisphosphate binding | Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions. |
| phosphatidylserine binding | Binding to phosphatidylserine, a class of glycophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of L-serine. |
| protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
| 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. |
8 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. |
| 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. |
| chemical synaptic transmission | The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| positive regulation of calcium ion-dependent exocytosis | Any process that activates or increases the frequency, rate or extent of calcium ion-dependent exocytosis. |
| 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. |
| sensory perception of smell | The series of events required for an organism to receive an olfactory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Olfaction involves the detection of chemical composition of an organism's ambient medium by chemoreceptors. This is a neurological process. |
| 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 |
| Q7L8C5 | SYT13 | Synaptotagmin-13 | Homo sapiens (Human) | PR |
| Q86SS6 | SYT9 | Synaptotagmin-9 | Homo sapiens (Human) | PR |
| Q9BQG1 | SYT3 | Synaptotagmin-3 | 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 |
| 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 |
| 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 |
| Q9R0N4 | Syt10 | Synaptotagmin-10 | Mus musculus (Mouse) | PR |
| Q812E4 | Sytl5 | Synaptotagmin-like protein 5 | Rattus norvegicus (Rat) | PR |
| Q925B5 | Syt13 | Synaptotagmin-13 | 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 |
| O08625 | Syt10 | Synaptotagmin-10 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSFHKEDGVN | SLCQKALHIV | TELCFAGQVE | WEKCSGIFPR | DRGSQGGSST | DISVSLLAVV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VSFCGLALLV | VSLFVFWKLC | WPCWKSKPVT | SNITTLPQSI | SSAPTEVFET | EEKKEIKENE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KPAVKAIEPA | IKISHTSPDI | PAEVQTALKE | HLIKHARVQR | QITEPTSSTR | HSSFRRHLPR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QMQVSSVDFS | MGTEPVLQRG | ETTTSIGRIK | PELYKQKSVD | SEGNQNEDVK | ICGKLNFTLQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YDYENELLVV | KIIKALDLPA | KDFTGTSDPY | VKMYLLPDRK | KKFQTRVHRK | TLNPLFDETF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QFPVAYDQLS | NRKLHFSVYD | FDRFSRHDMI | GEVILDNLFE | VSDLSREATV | WKDIHCATTE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SIDLGEIMFS | LCYLPTAGRM | TLTVIKCRNL | KAMDITGSSD | PYVKVSLMCE | GRRLKKRKTT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TKKNTLNPVY | NEAIIFDIPP | ENVDQVSLSI | AVMDYDRVGH | NEVIGVCRTG | LDAEGLGRDH |
| 490 | 500 | 510 | 520 | ||
| WNEMLAYHRK | PITHWHPLLE | LPGRATSFDS | QGSCPSPKPP | STP |