O15049
PR
Gene name |
N4BP3 (KIAA0341) |
Protein name |
NEDD4-binding protein 3 |
Names |
N4BP3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23138 |
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 O15049
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O15049-F1 | Predicted | AlphaFoldDB |
571 variants for O15049
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 2 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362380572 rs1283585891 |
2 | A>V | No |
ClinGen gnomAD |
|
|
rs1221192005 CA362380581 |
4 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3588068 rs545655893 |
9 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1561616163 CA362380637 |
10 | I>T | No |
ClinGen Ensembl |
|
|
rs1321807279 CA362380656 |
12 | M>V | No |
ClinGen TOPMed |
|
|
rs761388190 CA3588069 |
14 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs764936930 CA3588071 |
15 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764936930 CA3588070 |
15 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362380726 rs1216137636 |
16 | G>D | No |
ClinGen gnomAD |
|
|
rs762737785 CA3588072 |
16 | G>R | No |
ClinGen ExAC |
|
|
CA362380773 rs1464569659 |
20 | E>K | No |
ClinGen TOPMed |
|
|
CA3588077 rs552018216 |
21 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588078 rs757378716 |
21 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs552018216 CA3588076 |
21 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362380807 rs1405489401 |
23 | D>A | No |
ClinGen gnomAD |
|
|
CA362380814 rs1581091087 |
23 | D>E | No |
ClinGen Ensembl |
|
|
CA362380809 rs1405489401 |
23 | D>G | No |
ClinGen gnomAD |
|
|
CA362380836 rs1037732606 |
25 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1037732606 CA132906802 |
25 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs201118895 CA3588079 |
27 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201118895 CA362380848 |
27 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1239411125 CA362380862 |
28 | E>* | No |
ClinGen TOPMed |
|
|
CA362380863 rs1196194975 |
28 | E>V | No |
ClinGen TOPMed |
|
|
CA132906811 rs543249506 |
29 | L>P | No |
ClinGen 1000Genomes gnomAD |
|
|
CA3588081 rs561957088 |
30 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3588080 rs746058537 |
30 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372163473 CA362380891 |
31 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3588082 rs372163473 |
31 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA362380904 rs1232732021 |
34 | A>P | No |
ClinGen TOPMed |
|
|
rs530201685 CA3588086 |
35 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs762686237 CA3588089 |
37 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772898284 CA3588088 |
37 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA362380931 rs1400274953 |
38 | G>R | No |
ClinGen TOPMed |
|
|
CA362380942 rs1581091159 |
39 | S>P | No |
ClinGen Ensembl |
|
|
CA3588090 rs151325105 |
40 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362380956 COSM1066443 rs1231133291 |
40 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 46 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3588095 rs150025670 |
47 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754397081 CA3588094 |
47 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362381056 rs1357946231 |
48 | K>N | No |
ClinGen gnomAD |
|
|
rs1392667097 CA362381065 |
49 | G>D | No |
ClinGen gnomAD |
|
|
CA3588098 rs758613869 |
50 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588100 rs751253637 |
53 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3588101 rs754835735 |
53 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362381093 rs754835735 |
53 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs181722031 CA362381101 |
54 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362381103 rs748096078 |
55 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588103 rs748096078 |
55 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1184208991 CA362381153 |
62 | P>S | No |
ClinGen gnomAD |
|
|
CA3588109 rs770653223 |
63 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA362381159 rs1186363568 |
63 | K>T | No |
ClinGen gnomAD |
|
|
CA3588110 rs774072696 |
64 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1030091674 CA132906922 |
65 | D>Y | No |
ClinGen TOPMed |
|
|
rs145353567 CA3588111 |
66 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3588112 rs769030882 |
68 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588113 rs776905066 |
70 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362381216 rs1465550046 |
71 | N>T | No |
ClinGen gnomAD |
|
|
CA362381221 rs1581091293 |
72 | T>P | No |
ClinGen Ensembl |
|
|
rs916940806 CA362381235 |
74 | R>G | No |
ClinGen gnomAD |
|
|
rs916940806 CA132906937 |
74 | R>W | No |
ClinGen gnomAD |
|
|
rs1312215286 CA362381241 |
75 | A>D | No |
ClinGen gnomAD |
|
|
rs765798667 CA3588115 |
75 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588117 rs369141721 |
77 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141201575 CA3588116 |
77 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766473340 CA362381259 |
78 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755205802 CA3588120 |
79 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3588119 rs751776861 |
79 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362381268 rs1459783738 |
80 | P>A | No |
ClinGen gnomAD |
|
|
rs781028253 CA3588121 |
81 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588123 rs756053073 |
82 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA362381278 rs1429923433 |
82 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1429923433 CA362381280 |
82 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1422255887 CA362381302 |
85 | T>N | No |
ClinGen gnomAD |
|
|
rs769664939 CA3588124 |
87 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA3588127 rs778323932 |
89 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588128 rs778323932 |
89 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146962131 CA3588126 |
89 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362381331 rs1193690221 |
90 | E>V | No |
ClinGen TOPMed |
|
|
rs1384124804 CA362381339 |
91 | H>R | No |
ClinGen gnomAD |
|
|
CA3588129 rs771676272 |
91 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA362381345 rs1166599172 |
92 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3588130 rs777049138 |
92 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs377109703 CA3588131 |
93 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3588132 rs770226735 |
93 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588134 rs763493313 |
94 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588135 rs766461371 |
94 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs890498983 CA132906981 |
95 | G>C | No |
ClinGen gnomAD |
|
|
CA3588137 rs759799919 |
98 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA362381392 rs1490355643 |
100 | T>P | No |
ClinGen gnomAD |
|
|
rs767641359 CA3588138 |
101 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA362381408 rs1431945452 |
103 | P>T | No |
ClinGen gnomAD |
|
|
CA3588140 rs755998125 |
104 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3588141 rs1010484035 |
105 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs372643612 CA3588144 |
105 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3588142 rs1010484035 |
105 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1295972077 CA362381426 |
106 | G>V | No |
ClinGen TOPMed |
|
|
CA3588145 rs141941070 |
107 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA3588146 rs757187148 |
107 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA3588147 rs757187148 |
107 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA3588148 rs745435336 |
108 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588171 rs145817809 |
112 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3588173 rs201012815 |
112 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs201012815 CA3588172 |
112 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771415478 CA3588174 |
114 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1411925905 CA362381746 |
114 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3588175 rs779314029 |
115 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183495350 CA362381764 |
117 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs199745108 CA3588176 |
117 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1356416893 CA362381783 |
120 | P>S | No |
ClinGen gnomAD |
|
|
rs148261789 CA3588177 |
121 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775757520 CA3588178 |
121 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3588180 rs535517572 |
122 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs761525573 CA3588182 |
124 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs750357622 CA3588184 |
125 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs987512477 CA132907208 |
126 | K>Q | No |
ClinGen TOPMed |
|
|
rs1466368604 CA362381845 |
130 | S>C | No |
ClinGen gnomAD |
|
|
rs1205978860 CA362381851 |
131 | M>I | No |
ClinGen gnomAD |
|
|
rs946001942 CA132907214 |
131 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs7719667 CA362381868 |
133 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362381878 rs374053735 |
135 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374053735 CA3588188 |
135 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1288405102 CA362381881 |
136 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 139 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1476907808 CA362381905 |
139 | G>D | No |
ClinGen gnomAD |
|
|
CA132907235 rs902785700 |
140 | Q>E | No |
ClinGen TOPMed |
|
|
CA3588192 rs779378277 |
140 | Q>H | No |
ClinGen ExAC |
|
|
rs934304363 CA132907248 |
143 | W>R | No |
ClinGen TOPMed |
|
|
rs535658994 CA3588195 |
144 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3588196 rs747086248 |
144 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs747086248 CA3588197 |
144 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs547040339 CA3588198 |
146 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3588200 rs769444176 |
150 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs539560362 CA3588202 |
151 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362381985 rs1324889223 |
152 | L>V | No |
ClinGen gnomAD |
|
|
rs1276925309 CA362381992 |
153 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 154 | C>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA132907278 rs1014378985 |
154 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3588205 rs759071860 |
155 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs557451928 CA3588206 |
156 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1561617000 CA362382028 |
159 | S>N | No |
ClinGen Ensembl |
|
|
rs752262735 CA3588207 |
160 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1401106497 CA362382040 |
161 | G>A | No |
ClinGen gnomAD |
|
|
CA3588209 rs536920730 CA3588210 |
161 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1358244696 CA362382044 |
162 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3588213 rs3812082 |
163 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3588212 rs201687291 |
163 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755138757 CA3588214 |
164 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs781371299 CA3588215 |
165 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs541231258 CA132907313 |
165 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751964720 CA3588217 |
165 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588216 rs541231258 |
165 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772816113 CA3588218 |
166 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA362382063 rs1351789800 |
166 | Q>R | No |
ClinGen gnomAD |
|
|
CA362382071 rs1581092031 |
167 | A>G | No |
ClinGen Ensembl |
|
|
rs749095488 CA3588219 |
167 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588221 rs770809556 |
168 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362382074 rs1453449792 |
168 | R>L | No |
ClinGen gnomAD |
|
|
rs770809556 CA3588220 |
168 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759513035 CA3588223 COSM1258646 |
169 | A>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs367939456 CA3588224 |
170 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA132907345 rs1026630534 |
171 | L>M | No |
ClinGen TOPMed |
|
|
rs760238204 CA3588226 |
174 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3588227 rs760238204 |
174 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs372591148 CA3588229 |
176 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362382138 rs1434408056 |
179 | E>G | No |
ClinGen TOPMed |
|
|
rs752080078 CA3588232 |
181 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362382158 rs1443304846 |
182 | P>L | No |
ClinGen gnomAD |
|
|
rs1028659578 CA132907370 |
183 | E>Q | No |
ClinGen gnomAD |
|
|
rs1239669427 CA362382168 |
184 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA362382170 rs1239669427 |
184 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA362382169 rs1239669427 |
184 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3588233 rs138041907 |
184 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200709059 CA3588236 |
185 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1581092120 CA362382171 |
185 | E>K | No |
ClinGen Ensembl |
|
|
CA362382189 rs1299374160 |
187 | S>N | No |
ClinGen TOPMed |
|
|
CA3588242 rs377060909 |
190 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs369739730 CA3588245 |
192 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1173509996 CA362382252 |
193 | S>G | No |
ClinGen TOPMed |
|
|
CA362382260 rs1438894223 |
193 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs776453971 CA3588246 |
195 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1369863853 CA362382316 |
198 | G>D | No |
ClinGen gnomAD |
|
|
CA3588247 rs374161919 |
199 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766826696 CA3588248 |
199 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs946865063 CA132907431 |
201 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3588249 rs763486579 |
202 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs978309349 CA132907436 |
203 | T>P | No |
ClinGen TOPMed |
|
|
rs1411004384 CA362382358 |
203 | T>S | No |
ClinGen gnomAD |
|
|
CA3588250 rs755478176 |
205 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588251 rs768082657 |
206 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581092218 CA362382391 |
207 | P>S | No |
ClinGen Ensembl |
|
|
CA3588252 rs752671285 |
208 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA3588253 rs377179481 |
209 | S>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA362382445 rs1201961544 |
211 | S>A | No |
ClinGen TOPMed |
|
|
rs1342490253 CA362382462 |
212 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA3588256 rs369949337 |
214 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778671252 CA3588257 |
214 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457118056 CA362382513 |
216 | N>K | No |
ClinGen gnomAD |
|
|
CA3588259 rs771842218 |
218 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA362382545 rs1186473091 |
219 | G>E | No |
ClinGen gnomAD |
|
|
CA3588261 rs746461978 CA362382541 |
219 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 219 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3588263 rs199651803 |
220 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 220 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA132907483 COSM1672160 rs769576239 |
224 | R>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3588265 rs769576239 |
224 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3588264 rs146085011 |
224 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751114589 CA3588267 |
229 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399627603 CA362382610 |
229 | P>T | No |
ClinGen TOPMed |
|
|
rs529589586 CA3588268 |
230 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA362382634 rs1394484932 |
231 | E>D | No |
ClinGen gnomAD |
|
|
CA362382640 rs201934010 |
232 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3588269 rs753221471 |
232 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588270 rs753221471 |
232 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201934010 CA3588271 |
232 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs943026821 CA132907502 |
233 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs757401509 CA3588273 |
234 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588275 rs750165967 |
237 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768532906 CA3588279 |
238 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs746943452 CA3588278 |
238 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3588280 rs780783864 |
242 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3588281 rs780783864 |
242 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1316215793 CA362382750 |
243 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA362382752 rs1316215793 |
243 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs773031714 CA3588283 |
245 | P>L | No |
ClinGen ExAC |
|
|
CA362382790 rs1379698366 |
246 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA362382787 rs1177482085 |
246 | P>S | No |
ClinGen gnomAD |
|
|
rs762555857 CA3588285 |
247 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588286 rs534626032 |
247 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588288 rs534626032 |
247 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs534626032 CA3588287 |
247 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762555857 CA3588284 |
247 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765401243 CA362382820 |
251 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588292 rs765401243 |
251 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs767128046 | 251 | S>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750625937 CA3588293 |
252 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750625937 CA362382824 |
252 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588296 rs751376503 |
253 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766183188 CA3588295 |
253 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 254 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754887176 CA3588297 |
255 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362382841 rs1214071076 |
255 | A>V | No |
ClinGen gnomAD |
|
|
CA3588300 rs149557280 |
256 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3588302 rs551476661 |
258 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3588303 rs569515802 |
258 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3588301 rs551476661 |
258 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362382874 rs1431748680 |
260 | A>V | No |
ClinGen gnomAD |
|
|
CA132907633 rs747343409 |
261 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588305 rs747343409 |
261 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157134677 CA362382890 |
263 | P>L | No |
ClinGen gnomAD |
|
|
rs762344622 CA3588308 |
264 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs762344622 CA362382891 |
264 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588309 rs765276755 |
265 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1386205710 CA362382904 |
266 | C>R | No |
ClinGen gnomAD |
|
|
rs375969991 CA3588311 |
266 | C>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs375969991 CA362382906 |
266 | C>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA362382920 rs1378899529 |
268 | E>* | No |
ClinGen gnomAD |
|
|
rs1020797273 CA132907650 |
268 | E>D | No |
ClinGen gnomAD |
|
|
CA362382930 rs1308114090 |
269 | L>P | No |
ClinGen gnomAD |
|
|
CA362382932 rs1359470106 |
270 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 270 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766524163 CA3588312 |
271 | R>S | No |
ClinGen ExAC TOPMed |
|
|
CA362382946 rs1223142140 |
272 | G>S | No |
ClinGen gnomAD |
|
|
rs1267685733 CA362382953 |
273 | L>I | No |
ClinGen gnomAD |
|
|
CA362382954 rs1267685733 |
273 | L>V | No |
ClinGen gnomAD |
|
|
CA362382958 rs1487791022 |
274 | G>S | No |
ClinGen gnomAD |
|
|
CA132907662 rs977500579 |
275 | D>E | No |
ClinGen Ensembl |
|
|
CA3588313 rs370624766 |
275 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3588314 rs201977874 |
276 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1403576115 CA362382970 |
276 | E>K | No |
ClinGen TOPMed |
|
|
rs148573796 CA362382983 |
277 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362382979 rs1176959272 |
277 | D>Y | No |
ClinGen gnomAD |
|
|
rs375459542 CA132907695 |
278 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA362382987 rs375459542 |
278 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs142986957 CA3588317 |
278 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3588318 rs555655115 |
280 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1332000166 CA362383007 |
281 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA362383006 rs1332000166 |
281 | P>R | No |
ClinGen gnomAD |
|
|
rs1475138150 TCGA novel CA362383015 |
282 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
CA362383018 rs748755786 |
283 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748755786 CA3588320 |
283 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374328672 CA3588319 |
283 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs530567722 CA3588338 |
285 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753336203 CA3588337 |
285 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA362383064 rs1173460760 |
288 | E>D | No |
ClinGen gnomAD |
|
|
rs750052865 CA3588341 |
289 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750052865 CA3588340 |
289 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781532963 CA3588342 |
289 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588343 rs748515926 |
290 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA362383077 rs778174831 |
291 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA3588345 rs778174831 |
291 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs557179606 CA3588344 |
291 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456488596 CA362383114 |
297 | L>P | No |
ClinGen gnomAD |
|
|
CA362383119 rs1221304653 |
298 | K>E | No |
ClinGen gnomAD |
|
|
rs770895429 CA3588347 |
299 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs548992708 CA3588348 |
299 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3588350 rs772432571 |
300 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA362383138 rs1478854890 |
301 | Y>C | No |
ClinGen gnomAD |
|
|
CA3588352 rs760564906 |
302 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs764049092 CA3588353 |
304 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA132908055 rs920129500 |
304 | R>W | No |
ClinGen gnomAD |
|
|
CA3588354 rs753684737 |
305 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs761856052 CA3588356 |
306 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs753021694 CA3588360 |
307 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs749999931 CA3588357 |
307 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs749999931 CA3588358 |
307 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3588359 rs779693737 |
307 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362383176 rs1581093096 |
308 | V>G | No |
ClinGen Ensembl |
|
|
CA362383183 rs1426237308 |
309 | T>S | No |
ClinGen TOPMed |
|
|
rs151081300 CA3588361 |
310 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151081300 CA3588362 |
310 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749747696 CA3588363 |
310 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3588365 rs771538046 |
311 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362383193 rs1311779207 |
311 | K>T | No |
ClinGen gnomAD |
|
|
CA362383201 rs1271135013 |
312 | A>G | No |
ClinGen TOPMed |
|
|
CA3588366 rs745963372 |
314 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588367 rs772374690 |
314 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588368 rs772374690 |
314 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs912196496 CA132908116 |
315 | S>N | No |
ClinGen Ensembl |
|
|
rs567308395 CA362383221 |
316 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1324877625 CA362383223 |
316 | E>G | No |
ClinGen TOPMed |
|
|
rs567308395 CA3588369 |
316 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs567308395 CA132908124 |
316 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3588370 rs768311947 |
317 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588371 rs115186199 |
317 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362383234 rs1581093172 |
318 | N>T | No |
ClinGen Ensembl |
|
|
rs1323808594 CA362383243 |
319 | L>P | No |
ClinGen gnomAD |
|
|
rs1373843161 CA362383254 |
321 | L>V | No |
ClinGen TOPMed |
|
|
CA132908144 rs916378890 |
322 | Q>H | No |
ClinGen TOPMed |
|
|
CA3588373 rs765222793 |
322 | Q>K | No |
ClinGen ExAC |
|
|
CA362383275 rs762481668 |
324 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588374 rs772651864 |
324 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA3588376 rs765915392 |
326 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA362383300 rs1394154552 |
328 | Q>* | No |
ClinGen gnomAD |
|
|
rs1448012792 CA362383316 |
330 | Q>* | No |
ClinGen gnomAD |
|
|
rs751193332 CA3588378 |
331 | R>W | No |
ClinGen ExAC |
|
|
CA3588379 rs189683566 |
332 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362383328 rs1238691423 |
332 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA362383337 rs1358610280 |
334 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs764363791 CA362383339 |
334 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764363791 CA3588380 |
334 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368026384 CA132908172 |
337 | L>P | No |
ClinGen ESP TOPMed |
|
|
CA3588383 rs776686775 |
338 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588382 rs757650728 |
338 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236207437 CA362383364 |
339 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 339 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1192878673 CA362383385 |
341 | Q>H | No |
ClinGen TOPMed |
|
|
CA3588385 rs758517406 |
344 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA132908195 rs767083843 |
345 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA132908192 rs767083843 |
345 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs867794392 CA132908188 |
345 | P>S | No |
ClinGen Ensembl |
|
|
rs1163343720 CA362383407 |
346 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1012947945 CA132908205 |
347 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3588388 rs571312021 |
348 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3588389 rs571312021 |
348 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3588387 rs747183553 |
348 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747988073 CA3588390 |
349 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588392 rs747988073 |
349 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747988073 CA3588391 |
349 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765862688 CA3588394 |
350 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868265395 CA132908237 |
351 | G>C | No |
ClinGen gnomAD |
|
|
rs868265395 CA362383429 |
351 | G>S | No |
ClinGen gnomAD |
|
|
CA132908241 rs867249685 |
352 | T>P | No |
ClinGen Ensembl |
|
|
rs868090976 CA132908246 |
355 | E>K | No |
ClinGen Ensembl |
|
|
CA3588396 rs200785993 |
358 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436071753 CA362383475 |
358 | P>L | No |
ClinGen TOPMed |
|
|
CA362383472 rs200785993 |
358 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 359 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3588397 rs767215454 |
360 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs754105437 CA3588398 |
361 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200954417 CA362383491 |
361 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200954417 CA362383490 |
361 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200954417 CA3588399 |
361 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA132908265 rs995694394 |
362 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA362383493 rs1365450410 |
362 | P>T | No |
ClinGen TOPMed |
|
|
CA3588402 rs759028400 |
364 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1263363186 CA362383520 |
366 | A>T | No |
ClinGen gnomAD |
|
|
CA3588403 rs780274897 |
366 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs747113970 CA3588404 |
367 | R>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs747113970 CA362383527 |
367 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 369 | E>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1193190505 CA362383569 |
371 | C>F | No |
ClinGen gnomAD |
|
|
rs1210265284 CA362383565 |
371 | C>R | No |
ClinGen TOPMed |
|
|
rs756274234 CA3588449 |
374 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA362383606 rs1363361247 |
376 | E>D | No |
ClinGen gnomAD |
|
|
CA3588451 rs753593346 |
379 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3588452 rs757019755 |
381 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 383 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3588454 rs371372783 |
385 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3588456 rs779546976 |
385 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA3588455 rs371372783 COSM1739118 |
385 | R>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA3588457 rs200956523 |
388 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776453844 CA3588459 |
389 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs747842127 CA3588460 |
389 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1353191672 CA362383702 |
391 | L>R | No |
ClinGen TOPMed |
|
|
rs1292219045 CA362383703 |
392 | A>T | No |
ClinGen TOPMed |
|
|
rs1467375919 CA362383711 |
393 | Q>* | No |
ClinGen gnomAD |
|
|
CA132908486 rs899943047 |
393 | Q>R | No |
ClinGen TOPMed |
|
|
rs187860405 CA3588462 COSM262286 |
396 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs767925571 CA3588464 |
397 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3588467 rs764202606 |
398 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588466 rs760778397 |
398 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs754041098 CA3588468 |
399 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166850786 CA362383748 |
399 | F>V | No |
ClinGen TOPMed |
|
|
TCGA novel rs1415584752 CA362383772 |
402 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
rs757474365 CA3588469 |
403 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362383779 rs1402254813 |
404 | Q>K | No |
ClinGen gnomAD |
|
|
CA362383791 rs1297283090 |
405 | L>P | No |
ClinGen gnomAD |
|
|
CA3588474 rs779880847 |
406 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs779880847 CA3588473 |
406 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs144854116 CA3588472 |
406 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3588475 rs754508187 |
407 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs780898503 CA3588476 |
407 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA362383807 rs769334283 |
409 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA3588480 rs746239266 |
409 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769334283 COSM449411 CA3588478 |
409 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1483579582 CA362383819 |
411 | Q>P | No |
ClinGen gnomAD |
|
|
CA3588483 rs761215813 |
412 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588484 rs761215813 |
412 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362383831 rs1255562489 |
413 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1255562489 CA362383832 |
413 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA362383837 rs1215944947 |
414 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 414 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA132908569 rs879732953 |
414 | A>V | No |
ClinGen Ensembl |
|
|
rs1333096649 CA362383842 |
415 | Q>E | No |
ClinGen TOPMed |
|
|
CA362383846 rs1214843516 |
415 | Q>H | No |
ClinGen TOPMed |
|
|
rs762031816 CA3588486 |
415 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588487 rs765393835 |
416 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588488 rs193299865 |
417 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs193299865 CA362383855 |
417 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 418 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3588491 rs751520277 |
420 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755032729 CA362383878 |
421 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147588405 CA3588494 |
421 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147588405 CA3588493 |
421 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588492 rs755032729 |
421 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362383887 rs1354331320 |
423 | R>C | No |
ClinGen gnomAD |
|
|
CA362383889 rs1414677685 |
423 | R>H | No |
ClinGen gnomAD |
|
|
CA3588496 rs779777388 |
424 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779777388 CA362383891 |
424 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA132908607 rs969143528 |
426 | V>E | No |
ClinGen TOPMed |
|
|
rs954171613 CA132908604 |
426 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs772298001 CA3588499 |
427 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3588500 rs567245211 |
427 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362383913 rs1561618617 |
428 | S>G | No |
ClinGen Ensembl |
|
| TCGA novel | 429 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 430 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1404212155 CA362383938 |
431 | E>V | No |
ClinGen gnomAD |
|
|
rs1265265302 CA362383943 |
432 | Q>* | No |
ClinGen gnomAD |
|
|
rs1474266998 CA362383945 |
432 | Q>R | No |
ClinGen gnomAD |
|
|
rs769159290 CA3588502 |
433 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA362383956 rs1414991754 |
434 | P>S | No |
ClinGen gnomAD |
|
|
rs761823871 CA3588504 |
435 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM213935 CA3588503 rs528099670 |
435 | R>W | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA3588505 rs770019445 |
438 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA362383997 rs1419805317 |
441 | S>G | No |
ClinGen gnomAD |
|
|
CA362384001 rs1299269724 |
441 | S>N | No |
ClinGen gnomAD |
|
|
CA362384007 rs1347457023 |
442 | C>Y | No |
ClinGen gnomAD |
|
|
CA3588509 rs751403764 |
445 | D>G | No |
ClinGen ExAC |
|
|
rs766264356 CA3588508 |
445 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1368795728 CA362384035 |
446 | D>G | No |
ClinGen gnomAD |
|
|
rs965107337 CA132908657 |
446 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs767582877 CA3588511 |
447 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA3588510 rs759487314 |
447 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA3588513 rs752209708 |
449 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588514 rs755545652 |
450 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA132908676 rs777388090 |
451 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777388090 CA3588515 |
451 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756974988 CA3588517 |
452 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs780333830 CA3588519 |
454 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1231081089 CA362384080 |
454 | G>R | No |
ClinGen gnomAD |
|
|
rs757707517 CA3588512 |
455 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA362384103 rs1318281563 |
457 | G>V | No |
ClinGen gnomAD |
|
|
rs1350780812 CA362384106 |
458 | G>D | No |
ClinGen gnomAD |
|
|
CA132908698 rs916512962 |
458 | G>S | No |
ClinGen Ensembl |
|
|
CA362384110 rs1443581802 |
459 | S>G | No |
ClinGen gnomAD |
|
|
CA362384116 rs747391019 |
459 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA3588521 rs769104324 |
460 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3588523 rs748730245 |
461 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284559088 CA362384133 |
462 | R>T | No |
ClinGen gnomAD |
|
|
CA362384140 rs1348686558 |
463 | D>G | No |
ClinGen gnomAD |
|
|
rs1223107402 CA362384150 |
464 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1336608271 CA362384170 |
467 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1457915583 CA362384182 |
469 | R>L | No |
ClinGen gnomAD |
|
|
CA362384180 rs1457915583 |
469 | R>Q | No |
ClinGen gnomAD |
|
|
CA3588526 rs753699896 |
469 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481802453 CA362384188 |
470 | A>V | No |
ClinGen TOPMed |
|
|
rs771291093 CA3588527 |
473 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362384203 rs1183583063 |
473 | L>V | No |
ClinGen gnomAD |
|
|
CA3588528 rs774237998 |
474 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs546866543 CA3588529 |
474 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1281927079 CA362384215 |
475 | E>A | No |
ClinGen TOPMed |
|
|
CA362384212 rs1463538405 |
475 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA362384221 rs1561618885 |
476 | R>* | No |
ClinGen Ensembl |
|
|
rs767458197 CA362384226 |
477 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs767458197 CA3588530 |
477 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs760720471 CA3588533 |
478 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs760720471 CA3588532 |
478 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs752552589 CA3588531 |
478 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA3588535 rs571513191 |
481 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs571513191 CA3588536 |
481 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA362384246 rs1441588516 |
481 | E>K | No |
ClinGen gnomAD |
|
|
rs1441588516 CA362384247 |
481 | E>Q | No |
ClinGen gnomAD |
|
|
CA362384259 rs764895473 |
482 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588538 rs142072093 |
483 | A>V | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA362384265 rs1225284853 |
484 | L>M | No |
ClinGen TOPMed |
|
|
COSM3941261 CA362384271 rs1318370005 |
485 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA3588540 rs781658772 |
485 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA362384293 rs1187633370 |
488 | Q>* | No |
ClinGen gnomAD |
|
|
CA3588543 rs777656725 |
490 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756711351 CA3588542 |
490 | R>W | No |
ClinGen ExAC |
|
|
rs995538284 CA132908779 |
491 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA3588544 rs749407979 |
491 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1169817712 CA362384322 |
493 | W>* | No |
ClinGen gnomAD |
|
|
CA362384337 rs1394617128 |
495 | E>Q | No |
ClinGen gnomAD |
|
|
CA132908786 rs375871077 |
496 | E>D | No |
ClinGen ESP |
|
|
CA3588547 rs774681566 |
498 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA132908789 rs921344030 |
498 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA132908796 rs369295085 |
499 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3588548 rs373063135 |
499 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376298616 CA3588549 |
500 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3588550 COSM3410171 rs376298616 |
500 | V>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 501 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362384380 rs1406296183 |
502 | R>C | No |
ClinGen TOPMed |
|
|
CA3588551 rs760467114 |
502 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3588554 rs557102743 |
505 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs775957363 CA3588553 |
505 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs866556151 CA132908831 |
506 | E>G | No |
ClinGen Ensembl |
|
|
CA3588555 rs764768472 |
506 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1421232559 CA362384423 |
509 | G>R | No |
ClinGen gnomAD |
|
|
rs1475364618 CA362384437 |
511 | Y>D | No |
ClinGen TOPMed |
|
|
rs1475364618 CA362384435 |
511 | Y>N | No |
ClinGen TOPMed |
|
|
rs1195779869 CA362384446 |
512 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs758105336 CA3588557 |
512 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767769684 CA362384451 |
513 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767769684 CA3588558 |
513 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1561619063 CA362384461 |
514 | M>T | No |
ClinGen Ensembl |
|
|
rs753119320 CA3588559 |
514 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA3588560 rs756529253 |
515 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA3588561 rs778373751 |
516 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA3588562 rs150074997 |
516 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371478117 CA3588563 |
517 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3588564 rs779189603 |
517 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1325683270 CA362384485 |
518 | N>S | No |
ClinGen gnomAD |
|
|
rs1345046877 CA362384510 |
522 | E>* | No |
ClinGen gnomAD |
|
|
CA362384519 rs1286196574 |
523 | Q>P | No |
ClinGen gnomAD |
|
|
CA362384520 rs1286196574 |
523 | Q>R | No |
ClinGen gnomAD |
|
|
CA362384524 rs377505162 |
524 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3588567 rs377505162 |
524 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA132908880 rs1030754158 |
526 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1260035908 CA362384537 |
526 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA362384544 rs1397122113 |
527 | A>G | No |
ClinGen gnomAD |
|
|
CA3588572 rs761789929 |
529 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs768440800 CA3588571 |
529 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA3588573 rs537120491 |
530 | E>D | No |
ClinGen 1000Genomes ExAC |
|
|
rs1455255593 CA362384563 |
531 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA132908901 rs957919928 |
532 | P>A | No |
ClinGen Ensembl |
|
|
rs916269189 CA132908914 |
533 | T>A | No |
ClinGen Ensembl |
|
|
CA3588575 rs762526573 |
533 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA362384577 rs1368335256 |
534 | P>S | No |
ClinGen gnomAD |
|
|
rs752963716 CA3588577 |
535 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA362384602 rs1343936403 |
537 | P>L | No |
ClinGen TOPMed |
|
|
rs761067222 CA3588578 |
537 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3588579 rs555456846 |
538 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1462235832 CA362384610 |
539 | L>F | No |
ClinGen TOPMed |
|
|
CA362384621 rs1214700142 |
540 | E>D | No |
ClinGen gnomAD |
|
|
rs1350324389 CA362384615 |
540 | E>K | No |
ClinGen gnomAD |
|
|
CA132908931 rs982028636 |
542 | S>F | No |
ClinGen Ensembl |
|
|
rs1255347191 CA362384641 |
543 | K>N | No |
ClinGen gnomAD |
|
|
CA3588581 rs757901623 |
544 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA132908935 rs927767027 |
544 | I>T | No |
ClinGen TOPMed |
No associated diseases with O15049
No regional properties for O15049
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for O15049 | |||
Functions
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATAPGPAGI | AMGSVGSLLE | RQDFSPEELR | AALAGSRGSR | QPDGLLRKGL | GQREFLSYLH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LPKKDSKSTK | NTKRAPRNEP | ADYATLYYRE | HSRAGDFSKT | SLPERGRFDK | CRIRPSVFKP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TAGNGKGFLS | MQSLASHKGQ | KLWRSNGSLH | TLACHPPLSP | GPRASQARAQ | LLHALSLDEG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GPEPEPSLSD | SSSGGSFGRS | PGTGPSPFSS | SLGHLNHLGG | SLDRASQGPK | EAGPPAVLSC |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LPEPPPPYEF | SCSSAEEMGA | VLPETCEELK | RGLGDEDGSN | PFTQVLEERQ | RLWLAELKRL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YVERLHEVTQ | KAERSERNLQ | LQLFMAQQEQ | RRLRKELRAQ | QGLAPEPRAP | GTLPEADPSA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RPEEEARWEV | CQKTAEISLL | KQQLREAQAE | LAQKLAEIFS | LKTQLRGSRA | QAQAQDAELV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RLREAVRSLQ | EQAPREEAPG | SCETDDCKSR | GLLGEAGGSE | ARDSAEQLRA | ELLQERLRGQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EQALRFEQER | RTWQEEKERV | LRYQREIQGG | YMDMYRRNQA | LEQELRALRE | PPTPWSPRLE |
| SSKI |