Q13191
EV
Gene name |
CBLB (RNF56, Nbla00127) |
Protein name |
E3 ubiquitin-protein ligase CBL-B |
Names |
EC 2.3.2.27 , Casitas B-lineage lymphoma proto-oncogene b , RING finger protein 56 , RING-type E3 ubiquitin transferase CBL-B , SH3-binding protein CBL-B , Signal transduction protein CBL-B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:868 |
EC number |
2.3.2.27: Aminoacyltransferases |
Protein Class |
CBL (PTHR23007) |
Descriptions
The E3 ubiquitin-protein ligase CBL-B (CBL-B) is an E3 ubiquitin-protein ligase that functions as a negative regulator of T-cell activation. The expression of CBL-B in T cells causes ligand-induced down-modulation of T-cell receptors, thereby controlling the activation degree of T-cells during antigen presentation. Autoinhibition of Cbl-b involves the masking of the E2 binding site due to an interaction between the RING domain and the tyrosine kinase binding domain (TKB). The phosphorylation of Y363 results in a structural rearrangement that unblocks the E2 binding site, thereby activating the E3 ligase activity.
Autoinhibitory domains (AIDs)
Target domain |
39-343 (TKB domain) |
Relief mechanism |
PTM |
Assay |
Structural analysis |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
20 structures for Q13191
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2AK5 | X-ray | 185 A | D | 904-911 | PDB |
| 2BZ8 | X-ray | 200 A | C | 902-912 | PDB |
| 2DO6 | NMR | - | A/B | 931-970 | PDB |
| 2J6F | X-ray | 170 A | C | 902-912 | PDB |
| 2JNH | NMR | - | A | 926-971 | PDB |
| 2LDR | NMR | - | A | 351-426 | PDB |
| 2OOA | X-ray | 156 A | A/B | 924-973 | PDB |
| 2OOB | X-ray | 190 A | A | 924-973 | PDB |
| 3PFV | X-ray | 227 A | A/B | 38-344 | PDB |
| 3VGO | X-ray | 310 A | A/B/C | 39-426 | PDB |
| 3ZNI | X-ray | 221 A | A/E/I/M | 36-427 | PDB |
| 8GCY | X-ray | 181 A | A | 38-427 | PDB |
| 8QNG | X-ray | 220 A | A | 36-427 | PDB |
| 8QNH | X-ray | 200 A | A | 36-427 | PDB |
| 8QNI | X-ray | 248 A | A | 36-427 | PDB |
| 8QTG | X-ray | 142 A | A | 36-427 | PDB |
| 8QTH | X-ray | 220 A | A | 36-427 | PDB |
| 8QTJ | X-ray | 152 A | A | 36-427 | PDB |
| 8QTK | X-ray | 187 A | A | 36-427 | PDB |
| AF-Q13191-F1 | Predicted | AlphaFoldDB |
1027 variants for Q13191
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| VAR_088738 | 257 | H>L | ADMIO3; likely pathogenic [UniProt] | Yes | UniProt |
| VAR_088739 | 436 | C>W | ADMIO3; uncertain significance [UniProt] | Yes | UniProt |
| VAR_088740 | 468 | R>del | ADMIO3; likely pathogenic [UniProt] | Yes | UniProt |
| rs780651060 | 2 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs2092496567 | 3 | N>D | No | gnomAD | |
| rs756555148 | 3 | N>K | No |
ExAC gnomAD |
|
| rs1289969084 | 3 | N>T | No |
TOPMed gnomAD |
|
| rs548476890 | 5 | M>I | No | Ensembl | |
| rs368086824 | 5 | M>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs2092495790 | 7 | G>D | No | TOPMed | |
| rs2092495965 | 7 | G>S | No | TOPMed | |
| rs2092495790 | 7 | G>V | No | TOPMed | |
| rs1560602601 | 8 | R>G | No | Ensembl | |
| rs781589462 | 9 | N>D | No | ExAC | |
| rs1314392853 | 9 | N>K | No |
TOPMed gnomAD |
|
| rs1208464794 | 9 | N>S | No |
TOPMed gnomAD |
|
| rs1440034813 | 10 | P>A | No |
TOPMed gnomAD |
|
| rs1440034813 | 10 | P>S | No |
TOPMed gnomAD |
|
| rs2092494632 | 11 | G>A | No | gnomAD | |
|
COSM727458 COSM4859483 |
11 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs751697452 | 13 | R>G | No |
ExAC gnomAD |
|
| rs2092494193 | 13 | R>Q | No | Ensembl | |
| rs764074602 | 15 | G>E | No |
ExAC gnomAD |
|
| rs56312611 | 18 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs545593496 | 20 | G>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1414584825 | 23 | L>F | No |
TOPMed gnomAD |
|
| rs753783466 | 23 | L>S | No |
ExAC gnomAD |
|
|
COSM3845733 COSM3845732 |
23 | L>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2092492751 | 24 | G>D | No | TOPMed | |
| rs2092492751 | 24 | G>V | No | TOPMed | |
| rs1301977166 | 28 | A>V | No | gnomAD | |
| rs2092492416 | 31 | D>V | No | gnomAD | |
| rs1409654997 | 32 | A>V | No | TOPMed | |
| rs1287427740 | 33 | V>I | No | gnomAD | |
| rs1462997265 | 36 | P>L | No | gnomAD | |
| rs1327036904 | 38 | Q>E | No | TOPMed | |
| rs892991297 | 38 | Q>H | No | Ensembl | |
| rs2092490743 | 39 | A>P | No | Ensembl | |
| rs1001266989 | 41 | A>P | No |
TOPMed gnomAD |
|
| rs1001266989 | 41 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1387731922 | 43 | R>C | No | gnomAD | |
| rs760494231 | 43 | R>H | No |
ExAC gnomAD |
|
| rs1387731922 | 43 | R>S | No | gnomAD | |
| rs2092489486 | 44 | R>G | No |
TOPMed gnomAD |
|
|
COSM3584874 COSM3584875 |
45 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1255060207 | 46 | V>M | No | gnomAD | |
| rs772941095 | 49 | T>I | No |
ExAC gnomAD |
|
| rs1205052478 | 51 | K>Q | No | gnomAD | |
| rs768064851 | 55 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs578146705 | 56 | V>M | No |
1000Genomes ExAC gnomAD |
|
| TCGA novel | 58 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 59 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs775121383 | 60 | C>S | No |
ExAC gnomAD |
|
| rs775121383 | 60 | C>Y | No |
ExAC gnomAD |
|
| TCGA novel | 61 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs746368898 | 63 | P>L | No |
ExAC gnomAD |
|
| rs147344286 | 63 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs2091239526 | 66 | Q>* | No | Ensembl | |
| rs771210594 | 66 | Q>H | No |
ExAC gnomAD |
|
| rs116692800 | 66 | Q>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1221617762 | 67 | L>F | No | gnomAD | |
| rs777887307 | 67 | L>V | No |
ExAC gnomAD |
|
| rs1577887645 | 70 | S>I | No | Ensembl | |
| TCGA novel | 70 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs772286250 | 71 | P>L | No |
ExAC gnomAD |
|
| rs1471808129 | 73 | Y>C | No | gnomAD | |
| rs913942933 | 74 | I>M | No | gnomAD | |
| rs114806102 | 74 | I>V | No |
1000Genomes TOPMed gnomAD |
|
| rs778932559 | 77 | I>T | No |
ExAC gnomAD |
|
|
rs2091235049 COSM4813576 COSM445257 |
77 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
| rs1265308823 | 78 | L>F | No | gnomAD | |
| rs375734592 | 81 | T>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs1267250120 | 83 | Q>E | No |
TOPMed gnomAD |
|
| TCGA novel | 83 | Q>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs757035647 | 84 | H>Y | No |
ExAC gnomAD |
|
| rs2153122033 | 86 | R>* | No | Ensembl | |
| rs142684895 | 87 | L>I | No |
ESP TOPMed gnomAD |
|
| rs1326773323 | 88 | I>T | No |
TOPMed gnomAD |
|
| rs1210445279 | 88 | I>V | No |
TOPMed gnomAD |
|
| rs1262318604 | 90 | S>N | No |
TOPMed gnomAD |
|
| rs2091228857 | 90 | S>R | No | Ensembl | |
| rs1306493475 | 91 | K>N | No | gnomAD | |
| rs749347935 | 91 | K>R | No | Ensembl | |
| rs2091226779 | 92 | Y>C | No | TOPMed | |
| rs751322929 | 93 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs1239615924 | 93 | D>N | No | gnomAD | |
| rs1298476509 | 94 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1198449925 | 95 | N>I | No | TOPMed | |
| rs541532792 | 95 | N>K | No |
TOPMed gnomAD |
|
| rs1442486669 | 97 | K>N | No | gnomAD | |
| rs763706216 | 98 | L>P | No |
ExAC gnomAD |
|
| rs762667950 | 99 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs2091221221 | 99 | A>P | No | Ensembl | |
| rs752325444 | 102 | S>G | No |
ExAC gnomAD |
|
| rs759054710 | 109 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs370526652 | 109 | I>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs370526652 | 109 | I>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs2091218814 | 109 | I>V | No |
TOPMed gnomAD |
|
| rs777005437 | 111 | I>V | No |
ExAC gnomAD |
|
| rs546972153 | 112 | D>E | No |
1000Genomes TOPMed gnomAD |
|
| rs2091215968 | 113 | S>C | No | Ensembl | |
| rs771425628 | 113 | S>N | No |
ExAC gnomAD |
|
| rs138686213 | 113 | S>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2153121783 | 115 | M>T | No | Ensembl | |
| TCGA novel | 116 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1022800610 | 120 | R>Q | No |
TOPMed gnomAD |
|
| rs772319904 | 120 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs748358316 | 122 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs2091212115 | 124 | L>P | No | Ensembl | |
| rs146130148 | 125 | F>C | No |
ESP TOPMed gnomAD |
|
| rs146130148 | 125 | F>S | No |
ESP TOPMed gnomAD |
|
| rs2091210414 | 127 | E>K | No |
TOPMed gnomAD |
|
| rs768729900 | 128 | G>D | No |
ExAC gnomAD |
|
| rs768729900 | 128 | G>V | No |
ExAC gnomAD |
|
|
COSM3992620 COSM3992619 |
131 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs143777344 | 131 | R>S | No |
ESP TOPMed gnomAD |
|
| rs781017432 | 133 | Y>C | No |
ExAC gnomAD |
|
| rs2091207812 | 134 | E>A | No |
TOPMed gnomAD |
|
|
rs1432380285 COSM4860644 COSM727459 |
134 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs2153121626 | 139 | D>Y | No | Ensembl | |
|
COSM727460 rs369966206 COSM4859698 |
141 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP NCI-TCGA TOPMed gnomAD |
|
COSM445256 rs2079485862 COSM4317520 |
141 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs1385860243 | 143 | L>F | No | Ensembl | |
| rs2079484746 | 144 | T>K | No | Ensembl | |
|
COSM6162820 COSM6162819 |
149 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 152 | H>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3974059 COSM3974060 |
152 | H>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2079482384 | 153 | M>V | No | TOPMed | |
| rs114627188 | 155 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs895819147 | 159 | A>E | No |
TOPMed gnomAD |
|
| rs746956387 | 159 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1273152590 | 160 | I>T | No | gnomAD | |
| rs2079479884 | 160 | I>V | No |
TOPMed gnomAD |
|
| rs373239378 | 162 | P>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs373239378 | 162 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1329814780 | 162 | P>S | No |
TOPMed gnomAD |
|
| rs1041758018 | 163 | N>K | No |
TOPMed gnomAD |
|
| rs1295427547 | 163 | N>S | No |
TOPMed gnomAD |
|
| rs1287002563 | 165 | Q>K | No | gnomAD | |
| rs753327380 | 167 | Q>E | No |
ExAC gnomAD |
|
| rs2079476181 | 167 | Q>R | No | TOPMed | |
| rs1322998760 | 168 | G>A | No | gnomAD | |
| rs1228086676 | 170 | N>D | No |
TOPMed gnomAD |
|
| rs765908020 | 172 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs755523013 | 172 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs750944357 | 173 | I>N | No |
ExAC TOPMed gnomAD |
|
| rs1011543417 | 176 | A>P | No | TOPMed | |
| TCGA novel | 177 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1175384660 | 181 | F>Y | No | gnomAD | |
| rs2079470835 | 182 | W>* | No | TOPMed | |
| rs1440190329 | 183 | R>K | No | TOPMed | |
| rs1189087233 | 184 | K>R | No | TOPMed | |
| rs763235989 | 185 | F>V | No |
ExAC gnomAD |
|
|
COSM5355045 COSM5355046 |
186 | F>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2079468278 | 186 | F>Y | No | Ensembl | |
| rs369172363 | 187 | G>E | No |
ESP ExAC gnomAD |
|
| rs775494959 | 187 | G>R | No |
ExAC gnomAD |
|
| TCGA novel | 187 | G>W | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 188 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1209960847 | 191 | I>T | No |
TOPMed gnomAD |
|
| rs548001919 | 191 | I>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs774346321 | 192 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs768509663 | 193 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs539194998 | 196 | V>I | No |
1000Genomes gnomAD |
|
|
COSM3584873 COSM3584872 |
197 | F>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1443813559 | 198 | R>G | No |
TOPMed gnomAD |
|
| rs769311513 | 199 | Q>* | No |
ExAC TOPMed gnomAD |
|
| rs746210565 | 200 | C>* | No | gnomAD | |
| rs1459497493 | 200 | C>Y | No | TOPMed | |
| rs1056466114 | 202 | H>Q | No | TOPMed | |
| rs745426173 | 202 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs780679338 | 205 | H>Q | No |
ExAC TOPMed gnomAD |
|
|
TCGA novel rs2076595173 |
206 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs374943043 | 206 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1560084339 | 207 | I>M | No | Ensembl | |
| rs1560084292 | 210 | G>S | No | Ensembl | |
| TCGA novel | 214 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs778070681 | 214 | M>R | No |
ExAC gnomAD |
|
| rs752077835 | 214 | M>V | No |
ExAC TOPMed gnomAD |
|
|
COSM1035972 COSM4871305 |
217 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2076593081 | 218 | S>L | No | TOPMed | |
|
COSM1035970 COSM4875516 |
221 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1215422729 | 222 | L>* | No | gnomAD | |
| rs930067914 | 223 | T>I | No | Ensembl | |
| rs752951592 | 225 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs752951592 | 225 | N>H | No |
ExAC TOPMed gnomAD |
|
| rs765543240 | 225 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs1412821889 | 226 | D>N | No | gnomAD | |
| rs1312894900 | 230 | V>I | No |
TOPMed gnomAD |
|
| rs532061411 | 233 | F>S | No |
1000Genomes ExAC gnomAD |
|
| rs1352299406 | 237 | T>I | No | gnomAD | |
| rs2076589686 | 237 | T>S | No | Ensembl | |
| rs759263934 | 244 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs2076070512 | 244 | G>R | No | Ensembl | |
| rs759263934 | 244 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs530657068 | 245 | S>F | No |
TOPMed gnomAD |
|
| rs770518918 | 246 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs560042700 | 248 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs560042700 CA157905 RCV000120481 |
248 | R>Q | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs746568069 | 248 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs772700667 | 249 | N>H | No |
ExAC gnomAD |
|
|
COSM4813957 COSM1484398 |
257 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1239728667 | 258 | P>S | No | gnomAD | |
| rs1300654407 | 260 | Y>C | No | gnomAD | |
| rs748588106 | 261 | M>V | No |
ExAC gnomAD |
|
| rs1240008302 | 265 | T>I | No | TOPMed | |
| rs779417981 | 267 | D>E | No | ExAC | |
|
COSM4830986 COSM4830985 |
267 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1371284619 | 271 | A>S | No | gnomAD | |
| TCGA novel | 271 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1002577457 | 272 | R>* | No | Ensembl | |
| rs202224794 | 272 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs749620935 | 273 | L>Q | No |
1000Genomes ExAC |
|
| rs780473334 | 274 | Q>H | No |
ExAC gnomAD |
|
|
rs587778165 RCV000120480 CA157903 |
274 | Q>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs750585084 | 276 | Y>C | No |
ExAC gnomAD |
|
| rs2076060746 | 278 | T>N | No |
TOPMed gnomAD |
|
| rs757307211 | 280 | P>L | No |
ExAC gnomAD |
|
| rs767483919 | 280 | P>T | No |
ExAC gnomAD |
|
| rs151268538 | 281 | G>R | No |
ESP TOPMed gnomAD |
|
|
COSM4560488 COSM4560487 |
282 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1300898154 | 283 | Y>F | No |
TOPMed gnomAD |
|
| rs1435412433 | 284 | I>V | No | gnomAD | |
|
COSM4834562 COSM4834563 |
285 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1235771808 | 286 | R>Q | No | TOPMed | |
| rs1395911037 | 286 | R>W | No |
TOPMed gnomAD |
|
| TCGA novel | 287 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM4940268 COSM4940269 |
289 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1476526903 COSM5708403 COSM5708404 |
291 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1374545384 | 291 | R>Q | No |
TOPMed gnomAD |
|
| TCGA novel | 292 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2075422857 | 293 | G>R | No | gnomAD | |
| COSM1283937 | 296 | A>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1181342660 | 296 | A>D | No | gnomAD | |
| rs1255306349 | 297 | I>F | No |
TOPMed gnomAD |
|
| rs1255306349 | 297 | I>V | No |
TOPMed gnomAD |
|
| rs2075421573 | 298 | G>V | No | Ensembl | |
| rs749710812 | 302 | G>E | No |
ExAC gnomAD |
|
| rs1193673672 | 303 | D>V | No |
TOPMed gnomAD |
|
| rs1341041160 | 304 | G>E | No | gnomAD | |
| rs2075419441 | 305 | N>S | No | gnomAD | |
| rs1252188199 | 306 | I>V | No | gnomAD | |
| rs1560036113 | 307 | L>F | No | Ensembl | |
| rs2075418380 | 310 | I>M | No | gnomAD | |
|
TCGA novel rs367652959 |
317 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
|
COSM4815205 COSM445255 |
318 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2075417015 | 324 | S>G | No | TOPMed | |
| rs746094338 | 324 | S>N | No |
ExAC gnomAD |
|
| rs940644656 | 324 | S>R | No | Ensembl | |
|
rs1289603375 COSM6162821 COSM6162822 |
325 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
| rs1199195174 | 325 | R>K | No | TOPMed | |
| rs375090525 | 327 | G>R | No |
ESP ExAC gnomAD |
|
| rs757316753 | 328 | F>V | No |
ExAC gnomAD |
|
| rs867528083 | 331 | Y>C | No | gnomAD | |
| rs867528083 | 331 | Y>F | No | gnomAD | |
| rs2075051503 | 333 | D>Y | No | TOPMed | |
| rs777823614 | 335 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs754964240 | 336 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs1466884562 | 337 | Y>C | No |
TOPMed gnomAD |
|
| TCGA novel | 340 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 340 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs753784982 | 342 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs753784982 | 342 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs1214721650 | 343 | G>A | No | gnomAD | |
| rs1381582341 | 345 | C>* | No | gnomAD | |
| rs779898191 | 347 | P>S | No |
ExAC gnomAD |
|
| rs750183462 | 348 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs1302800263 | 348 | T>I | No | gnomAD | |
| rs750183462 | 348 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs2075045217 | 349 | P>S | No | Ensembl | |
| rs1576737342 | 350 | H>R | No | Ensembl | |
| rs1232274885 | 350 | H>Y | No | gnomAD | |
| rs2152868859 | 351 | D>G | No | Ensembl | |
| rs940447658 | 352 | H>R | No | Ensembl | |
|
COSM4815138 COSM445254 |
358 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs756942025 | 363 | Y>D | No |
ExAC gnomAD |
|
| rs751258605 | 368 | S>F | No |
ExAC gnomAD |
|
| rs1176312308 | 369 | T>N | No | gnomAD | |
| rs2074640709 | 371 | Q>K | No | Ensembl | |
| rs75381200 | 373 | C>Y | No |
1000Genomes ExAC gnomAD |
|
| rs760087852 | 377 | A>S | No |
ExAC gnomAD |
|
| rs1560008651 | 381 | K>N | No | Ensembl | |
| rs1256684691 | 384 | K>N | No | gnomAD | |
| rs556978479 | 384 | K>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1204044470 | 387 | P>L | No | gnomAD | |
| rs1270553280 | 389 | G>R | No |
TOPMed gnomAD |
|
| rs1560008353 | 389 | G>V | No | Ensembl | |
| rs748276732 | 391 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs774484928 | 392 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs2074634035 | 394 | T>I | No |
TOPMed gnomAD |
|
| TCGA novel | 395 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1356763973 | 395 | S>Y | No | gnomAD | |
| rs1302957360 | 397 | L>F | No |
TOPMed gnomAD |
|
|
RCV000120482 CA157907 rs568168857 |
398 | T>M | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 399 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs371507617 | 402 | E>D | No |
ESP TOPMed gnomAD |
|
| rs747819451 | 403 | S>L | No |
ExAC gnomAD |
|
|
COSM445253 COSM4816262 |
404 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs754549862 | 404 | D>Y | No |
ExAC gnomAD |
|
| rs1234641906 | 405 | G>S | No |
TOPMed gnomAD |
|
|
COSM727461 COSM4862222 |
407 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2152826621 | 407 | G>D | No | Ensembl | |
| rs112901961 | 409 | P>L | No | Ensembl | |
| rs112901961 | 409 | P>R | No | Ensembl | |
| rs1285976541 | 412 | R>C | No | TOPMed | |
| rs2072585562 | 412 | R>H | No | TOPMed | |
| rs2152826575 | 413 | C>F | No | Ensembl | |
| rs753239632 | 420 | P>L | No |
ExAC gnomAD |
|
| rs370027125 | 422 | I>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs2152826551 | 422 | I>V | No | Ensembl | |
| rs2072582887 | 423 | V>M | No | TOPMed | |
| rs1487954629 | 424 | D>H | No |
TOPMed gnomAD |
|
| rs2072581396 | 425 | P>L | No | Ensembl | |
| rs2152826503 | 427 | D>V | No | Ensembl | |
| rs2072580925 | 428 | P>A | No | gnomAD | |
|
COSM3584870 COSM3584871 |
428 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1559950094 | 429 | R>G | No | Ensembl | |
| rs377304294 | 430 | D>E | No | ESP | |
|
rs1159337338 COSM6162824 COSM6162823 |
430 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs767881240 | 430 | D>V | No |
ExAC TOPMed gnomAD |
|
| rs149831740 | 431 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs2072576347 | 432 | G>D | No | gnomAD | |
| rs2072576347 | 432 | G>V | No | gnomAD | |
| rs1008481485 | 433 | S>Y | No | Ensembl | |
| rs77464930 | 434 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs372784321 | 434 | R>S | No |
ESP ExAC gnomAD |
|
|
CA157885 rs116474782 RCV000120471 |
435 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs1267813673 | 436 | C>S | No | gnomAD | |
| rs112712946 | 437 | S>G | No | gnomAD | |
| rs1378471417 | 437 | S>N | No | Ensembl | |
| rs2072572121 | 437 | S>R | No | TOPMed | |
| rs775397048 | 438 | I>S | No |
ExAC TOPMed gnomAD |
|
| rs1484854521 | 438 | I>V | No | gnomAD | |
| rs78838054 | 439 | I>S | No | Ensembl | |
| rs1441465469 | 440 | D>N | No | Ensembl | |
| rs771062385 | 440 | D>V | No |
ExAC gnomAD |
|
| rs1235024210 | 442 | F>V | No | gnomAD | |
| rs2152826255 | 443 | G>D | No | Ensembl | |
| rs1013733815 | 444 | M>V | No |
TOPMed gnomAD |
|
| rs368162566 | 445 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1052817216 | 445 | P>S | No | Ensembl | |
| rs1052817216 | 445 | P>T | No | Ensembl | |
| rs772000243 | 446 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs747859683 | 446 | M>T | No |
ExAC gnomAD |
|
| rs1434147494 | 447 | L>P | No | gnomAD | |
| rs2072564158 | 447 | L>V | No | gnomAD | |
|
COSM4317494 COSM200559 |
448 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM4859188 COSM727462 |
448 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2152826148 | 449 | L>F | No | Ensembl | |
| rs768172905 | 449 | L>W | No |
ExAC gnomAD |
|
| rs2072561203 | 450 | D>G | No | Ensembl | |
| rs755562622 | 451 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs377118360 | 451 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs1426577683 | 452 | D>A | No | gnomAD | |
|
COSM1035963 rs1192217454 COSM4864511 |
452 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs2152826071 | 453 | D>E | No | Ensembl | |
| rs2152826077 | 453 | D>N | No | Ensembl | |
| rs1194350816 | 454 | D>N | No | gnomAD | |
|
COSM3914454 COSM3914455 rs781633028 |
455 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs201419253 | 455 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs2072555302 | 457 | E>* | No | Ensembl | |
| rs2152826008 | 458 | S>P | No | Ensembl | |
| rs2152826008 | 458 | S>T | No | Ensembl | |
| rs1345291033 | 459 | L>F | No |
TOPMed gnomAD |
|
| rs751845069 | 459 | L>S | No |
ExAC gnomAD |
|
|
RCV000120469 rs114461789 CA157881 |
460 | M>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1559948424 | 461 | M>I | No | Ensembl | |
| rs1197538501 | 462 | N>H | No | TOPMed | |
| rs2072549231 | 462 | N>K | No | Ensembl | |
| rs763077412 | 462 | N>S | No |
ExAC gnomAD |
|
| rs779755160 | 463 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs765424819 | 463 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs765424819 | 463 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
COSM3584868 COSM3584869 rs779755160 |
463 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs2152825889 | 465 | A>S | No | Ensembl | |
| rs2152825889 | 465 | A>T | No | Ensembl | |
|
rs61758360 RCV000120470 CA157883 |
466 | N>D | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs773316313 | 466 | N>I | No |
ExAC TOPMed gnomAD |
|
| rs773316313 | 466 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs749591758 | 467 | V>A | No | Ensembl | |
| rs371993076 | 467 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs535219619 | 468 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs535219619 | 468 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs567817486 COSM4864348 COSM1035959 |
468 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs1559947928 | 469 | K>E | No | Ensembl | |
| rs1213443450 | 470 | C>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| rs762767217 | 470 | C>Y | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 472 | D>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2152788342 | 472 | D>V | No | Ensembl | |
| rs1292607801 | 475 | N>I | No | gnomAD | |
| rs1263988518 | 475 | N>K | No |
TOPMed gnomAD |
|
| rs2152788308 | 477 | P>L | No | Ensembl | |
| rs2152788318 | 477 | P>S | No | Ensembl | |
| rs2152788285 | 479 | T>I | No | Ensembl | |
| TCGA novel | 483 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2152788223 | 487 | A>S | No | Ensembl | |
|
COSM1035957 COSM4871118 rs2152788212 |
487 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs771523464 | 491 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs771523464 | 491 | K>T | No |
ExAC TOPMed gnomAD |
|
| rs2069688675 | 492 | P>L | No | TOPMed | |
| rs2069688675 | 492 | P>R | No | TOPMed | |
| rs2069689379 | 492 | P>S | No | gnomAD | |
| TCGA novel | 493 | Q>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2152788141 | 493 | Q>* | No | Ensembl | |
| rs2152788125 | 493 | Q>H | No | Ensembl | |
| rs1559888953 | 493 | Q>L | No | Ensembl | |
| rs1559888953 | 493 | Q>R | No | Ensembl | |
| rs200005937 | 494 | P>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs748478012 | 494 | P>L | No |
ExAC gnomAD |
|
| rs748478012 | 494 | P>R | No |
ExAC gnomAD |
|
| rs200005937 | 494 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs200005937 | 494 | P>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs2069685330 | 495 | D>N | No | Ensembl | |
| rs2152788079 | 495 | D>V | No | Ensembl | |
| rs1021132236 | 496 | P>A | No | gnomAD | |
| rs1021132236 | 496 | P>T | No | gnomAD | |
| TCGA novel | 497 | L>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel rs779328589 |
498 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ExAC TOPMed gnomAD |
| rs1576470425 | 498 | Q>P | No | Ensembl | |
| rs1156317192 | 499 | I>M | No | gnomAD | |
| rs1480583893 | 499 | I>S | No | Ensembl | |
| rs1276468776 | 501 | H>L | No | gnomAD | |
| rs1576470272 | 501 | H>Y | No | gnomAD | |
| rs2069679982 | 502 | L>P | No | Ensembl | |
| rs2152787940 | 505 | P>S | No | Ensembl | |
| rs2152787940 | 505 | P>T | No | Ensembl | |
| rs566781408 | 506 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs2152787910 | 506 | P>S | No | Ensembl | |
| rs771867670 | 507 | V>M | No |
ExAC gnomAD |
|
|
rs2152787873 COSM1417546 COSM4783560 |
508 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2152787858 | 509 | P>L | No | Ensembl | |
| rs1009592315 | 509 | P>S | No |
TOPMed gnomAD |
|
| rs1248842712 | 510 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes NCI-TCGA TOPMed gnomAD |
| rs756150934 | 510 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs756150934 | 510 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs2152787827 | 511 | L>P | No | Ensembl | |
| rs2152787810 | 512 | D>N | No | Ensembl | |
| rs751482756 | 513 | L>P | No |
ExAC gnomAD |
|
| rs2152787805 | 513 | L>V | No | Ensembl | |
| rs1282174122 | 514 | I>F | No | gnomAD | |
| rs2069674448 | 515 | Q>E | No | Ensembl | |
| rs1439970968 | 517 | G>D | No |
TOPMed gnomAD |
|
| rs1218875176 | 518 | I>V | No | gnomAD | |
| rs1354594398 | 519 | V>I | No | gnomAD | |
| rs2069671845 | 520 | R>K | No | Ensembl | |
| rs762704280 | 520 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs1365171803 | 521 | S>C | No |
TOPMed gnomAD |
|
| rs4371546 | 522 | P>S | No | Ensembl | |
| rs1437031991 | 523 | C>F | No | gnomAD | |
| rs1437031991 | 523 | C>S | No | gnomAD | |
| rs764934208 | 524 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs1691359181 | 525 | S>C | No | gnomAD | |
| rs2152787637 | 525 | S>N | No | Ensembl | |
| rs2069667338 | 526 | P>S | No | TOPMed | |
| rs1420953036 | 527 | T>A | No | gnomAD | |
| rs1353935384 | 527 | T>M | No | TOPMed | |
| rs1384626008 | 530 | P>S | No |
TOPMed gnomAD |
|
| TCGA novel | 531 | K>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1220347498 | 532 | S>F | No | gnomAD | |
| rs1292648481 | 533 | S>C | No | gnomAD | |
|
COSM3914453 COSM3914452 rs1292648481 |
533 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1380790806 | 534 | P>L | No | gnomAD | |
| rs1441037863 | 535 | C>F | No | gnomAD | |
| rs1232399544 | 535 | C>G | No | gnomAD | |
| rs772523760 | 536 | M>L | No |
ExAC gnomAD |
|
| rs772523760 | 536 | M>V | No |
ExAC gnomAD |
|
| rs2069296661 | 537 | V>A | No | Ensembl | |
| rs2152781316 | 540 | Q>K | No | Ensembl | |
| rs769173177 | 541 | D>E | No |
ExAC gnomAD |
|
| rs1215910336 | 541 | D>N | No | gnomAD | |
| rs900213755 | 541 | D>V | No | Ensembl | |
| COSM1035955 | 541 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 542 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2069292622 | 542 | K>N | No | gnomAD | |
| rs1425619029 | 543 | P>L | No | gnomAD | |
| rs1425619029 | 543 | P>Q | No | gnomAD | |
|
COSM3845729 COSM3845728 |
544 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1176765357 | 545 | P>A | No | gnomAD | |
| rs2069290618 | 545 | P>I | No | Ensembl | |
| rs903926169 | 546 | A>P | No | gnomAD | |
| rs903926169 | 546 | A>T | No | gnomAD | |
| rs2152781179 | 546 | A>V | No | Ensembl | |
| rs1236080996 | 547 | P>L | No | gnomAD | |
| rs1452921687 | 547 | P>S | No |
TOPMed gnomAD |
|
| rs780186713 | 548 | P>L | No |
ExAC gnomAD |
|
| rs2152781126 | 549 | P>L | No | Ensembl | |
| rs770025427 | 550 | P>A | No |
ExAC gnomAD |
|
| rs745998394 | 552 | R>K | No |
ExAC gnomAD |
|
| rs745998394 | 552 | R>T | No |
ExAC gnomAD |
|
| rs1296866931 | 553 | D>E | No | gnomAD | |
| rs1175137110 | 553 | D>V | No | Ensembl | |
| rs2152781065 | 555 | P>L | No | Ensembl | |
| rs781316145 | 555 | P>T | No |
ExAC gnomAD |
|
| rs2152781050 | 556 | P>L | No | Ensembl | |
|
rs2069283154 TCGA novel |
556 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
RCV000120474 CA157891 rs148064625 |
557 | P>L | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs2152781041 | 557 | P>S | No | Ensembl | |
| rs778785703 | 558 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs753648687 | 559 | P>L | No |
ExAC gnomAD |
|
| rs2152780993 | 559 | P>S | No | Ensembl | |
|
COSM727463 COSM4858710 |
560 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs765989465 | 560 | E>Q | No |
ExAC gnomAD |
|
| rs760372312 | 561 | R>T | No |
ExAC TOPMed gnomAD |
|
| rs749959501 | 562 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs1411360988 | 562 | P>S | No |
TOPMed gnomAD |
|
| rs1411360988 | 562 | P>T | No |
TOPMed gnomAD |
|
| rs767149622 | 563 | P>A | No |
ExAC gnomAD |
|
| rs896626093 | 563 | P>L | No | Ensembl | |
| rs767149622 | 563 | P>S | No |
ExAC gnomAD |
|
| TCGA novel | 564 | P>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2069275036 | 564 | P>L | No | gnomAD | |
| rs542952599 | 564 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs542952599 | 564 | P>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs764673428 | 565 | I>V | No |
ExAC gnomAD |
|
| rs1382370426 | 566 | P>A | No | gnomAD | |
| rs1382370426 | 566 | P>S | No | gnomAD | |
| rs2069272947 | 567 | P>A | No | TOPMed | |
| rs2069272947 | 567 | P>T | No | TOPMed | |
| TCGA novel | 567 | P>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1305915547 | 569 | N>S | No |
TOPMed gnomAD |
|
| rs2069271562 | 570 | R>I | No | gnomAD | |
| TCGA novel | 572 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs746111539 | 573 | R>K | No |
ExAC TOPMed gnomAD |
|
| rs1215226318 | 574 | H>R | No | gnomAD | |
| rs202207806 | 575 | I>M | No | gnomAD | |
| rs776647009 | 576 | H>N | No |
ExAC gnomAD |
|
| rs776647009 | 576 | H>Y | No |
ExAC gnomAD |
|
| rs771034102 | 577 | H>D | No |
ExAC gnomAD |
|
| rs747045996 | 577 | H>Q | No |
ExAC gnomAD |
|
| rs771034102 | 577 | H>Y | No |
ExAC gnomAD |
|
| rs754881561 | 578 | V>E | No |
ExAC gnomAD |
|
| rs560074847 | 578 | V>M | No |
1000Genomes ExAC gnomAD |
|
| rs1467429414 | 579 | E>K | No | TOPMed | |
| rs749106034 | 580 | S>R | No |
ExAC gnomAD |
|
| rs149293415 | 581 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs149293415 | 581 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs2152780663 | 582 | P>S | No | Ensembl | |
|
rs17853100 VAR_025303 |
584 | R>K | No |
UniProt Ensembl dbSNP |
|
| rs755809065 | 585 | D>A | No |
ExAC gnomAD |
|
| rs2069260836 | 585 | D>E | No | TOPMed | |
|
COSM4812931 COSM445251 |
585 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1434340743 | 586 | P>A | No |
TOPMed gnomAD |
|
| rs918600962 | 586 | P>L | No | gnomAD | |
| rs1434340743 | 586 | P>S | No |
TOPMed gnomAD |
|
|
COSM5045419 COSM5045418 |
587 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs751082607 | 588 | M>I | No |
ExAC gnomAD |
|
| rs756873973 | 588 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs2069256591 | 590 | L>P | No | TOPMed | |
| TCGA novel | 591 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1559878351 | 592 | A>V | No | Ensembl | |
| rs2152780494 | 593 | W>C | No | Ensembl | |
| TCGA novel | 593 | W>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2069253541 | 594 | C>R | No | TOPMed | |
| rs765636039 | 595 | P>H | No |
ExAC gnomAD |
|
| rs759775874 | 596 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs2069251539 | 596 | R>L | No | TOPMed | |
| rs2069251539 | 596 | R>Q | No | TOPMed | |
| rs759775874 | 596 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs776863697 | 597 | D>G | No |
ExAC TOPMed |
|
| rs776863697 | 597 | D>V | No |
ExAC TOPMed |
|
| rs2069250021 | 598 | V>G | No | Ensembl | |
| rs927353347 | 598 | V>M | No | TOPMed | |
| rs2152780375 | 600 | G>V | No | Ensembl | |
| rs773276515 | 601 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs773276515 | 601 | T>N | No |
ExAC TOPMed gnomAD |
|
| rs773276515 | 601 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs1407246413 | 603 | Q>H | No |
TOPMed gnomAD |
|
| rs768638264 | 603 | Q>K | No |
ExAC TOPMed gnomAD |
|
| rs1313219535 | 603 | Q>R | No | gnomAD | |
| rs1278106126 | 604 | L>F | No | gnomAD | |
| rs373062024 | 604 | L>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs373062024 | 604 | L>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2069245209 | 605 | V>M | No | TOPMed | |
| rs755958233 | 607 | C>Y | No |
ExAC TOPMed gnomAD |
|
| rs1395578159 | 608 | R>* | No | gnomAD | |
| rs1395578159 | 608 | R>G | No | gnomAD | |
| rs988627410 | 608 | R>Q | No | gnomAD | |
| rs2152780246 | 609 | L>H | No | Ensembl | |
| rs369987245 | 611 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs369987245 | 611 | G>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs2069239662 | 612 | E>A | No | Ensembl | |
| rs751168713 | 612 | E>K | No |
ExAC gnomAD |
|
| rs1476818648 | 613 | G>C | No | gnomAD | |
| rs200157652 | 614 | S>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1559877532 | 614 | S>P | No | Ensembl | |
| rs1559877462 | 615 | P>A | No | Ensembl | |
| rs917399678 | 615 | P>L | No |
TOPMed gnomAD |
|
| rs917399678 | 615 | P>R | No |
TOPMed gnomAD |
|
| TCGA novel | 616 | K>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2069236097 | 617 | P>S | No | Ensembl | |
|
COSM3584863 COSM3584862 |
618 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs556268766 | 619 | I>T | No | 1000Genomes | |
| rs1441376107 | 619 | I>V | No | gnomAD | |
| rs757777424 | 621 | A>E | No |
ExAC TOPMed gnomAD |
|
|
CA157887 rs587778163 RCV000120472 |
621 | A>missing | No |
ClinGen ClinVar dbSNP |
|
| TCGA novel | 621 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs757777424 | 621 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs41302192 | 622 | S>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1217291617 | 622 | S>R | No | gnomAD | |
| rs765616072 | 622 | S>R | No |
ExAC TOPMed gnomAD |
|
|
CA157893 rs41302192 RCV000120475 RCV000885972 |
622 | S>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM1308350 COSM4810941 |
623 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs754175513 | 624 | N>I | No |
ExAC gnomAD |
|
| rs1279436531 | 625 | V>I | No | gnomAD | |
| rs1279436531 | 625 | V>L | No | gnomAD | |
| rs372314540 | 626 | N>I | No |
ExAC TOPMed gnomAD |
|
| rs372314540 | 626 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs372314540 | 626 | N>T | No |
ExAC TOPMed gnomAD |
|
| rs773364972 | 627 | G>E | No |
ExAC gnomAD |
|
| rs2069228331 | 628 | R>K | No | Ensembl | |
| rs2069227890 | 629 | H>P | No |
TOPMed gnomAD |
|
| rs1032682781 | 630 | S>G | No |
TOPMed gnomAD |
|
| rs1330454524 | 631 | R>T | No | gnomAD | |
| rs2069225226 | 633 | G>D | No | Ensembl | |
| rs775545683 | 634 | S>F | No |
ExAC gnomAD |
|
| rs769585842 | 636 | P>Q | No |
ExAC gnomAD |
|
|
CA157895 rs587778164 RCV000120476 |
638 | L>P | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1237898868 | 639 | M>I | No | gnomAD | |
| rs781121067 | 639 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs746660756 | 640 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs372086643 | 640 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs1235700079 | 641 | K>N | No | TOPMed | |
| rs2152779873 | 643 | R>K | No | Ensembl | |
| rs2152779873 | 643 | R>T | No | Ensembl | |
| rs777524900 | 644 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs138175657 | 644 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs138175657 | 644 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs41311396 CA157889 RCV000120473 |
645 | H>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs755439098 | 646 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1438039563 | 646 | D>N | No |
TOPMed gnomAD |
|
| rs993429762 | 648 | P>R | No |
TOPMed gnomAD |
|
| rs1376412513 | 651 | G>E | No | gnomAD | |
| rs754259722 | 653 | K>Q | No |
ExAC gnomAD |
|
| rs2152757440 | 654 | V>F | No | Ensembl | |
| COSM265674 | 654 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 656 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs767845485 | 657 | N>S | No |
ExAC TOPMed gnomAD |
|
| COSM278443 | 658 | G>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1559846139 | 659 | H>L | No | Ensembl | |
| rs1172336890 | 661 | G>R | No | gnomAD | |
| rs1248959218 | 662 | S>I | No | gnomAD | |
| rs1477268201 | 662 | S>R | No | gnomAD | |
| rs2067987806 | 664 | E>Q | No | TOPMed | |
| rs968766781 | 664 | E>V | No | TOPMed | |
|
rs1200851467 COSM6162825 COSM6162826 |
665 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1200851467 | 665 | Y>F | No | gnomAD | |
| rs1559845918 | 666 | D>E | No | Ensembl | |
| rs763082999 | 667 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs763082999 | 667 | V>G | No |
ExAC TOPMed gnomAD |
|
| rs751746381 | 667 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs776729407 | 668 | P>L | No |
ExAC gnomAD |
|
| rs766393459 | 669 | P>S | No |
ExAC gnomAD |
|
| rs766393459 | 669 | P>T | No |
ExAC gnomAD |
|
|
RCV000968007 rs114046756 |
670 | R>Q | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs760589517 | 670 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs2067983644 | 671 | L>F | No | TOPMed | |
| rs2067983644 | 671 | L>I | No | TOPMed | |
| rs2067982287 | 673 | P>H | No | gnomAD | |
| rs2067982619 | 673 | P>S | No | TOPMed | |
|
COSM3914451 COSM3914450 |
674 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1224056938 | 674 | P>R | No | gnomAD | |
|
rs573417053 COSM3584859 COSM3584860 |
674 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA gnomAD |
| rs1339230124 | 676 | P>A | No |
TOPMed gnomAD |
|
| rs1559845547 | 677 | V>I | No | Ensembl | |
| rs747769789 | 678 | T>I | No |
ExAC gnomAD |
|
| rs746479250 | 680 | L>P | No | TOPMed | |
| rs2152757167 | 681 | L>F | No | Ensembl | |
| rs2067978063 | 683 | S>G | No | TOPMed | |
| rs748748877 | 683 | S>I | No |
ExAC gnomAD |
|
| rs748748877 | 683 | S>T | No |
ExAC gnomAD |
|
| rs780577172 | 684 | I>T | No |
ExAC gnomAD |
|
| rs2067976790 | 685 | K>E | No | Ensembl | |
| rs116545486 | 686 | C>G | No | 1000Genomes | |
| rs116545486 | 686 | C>R | No | 1000Genomes | |
| rs1576329915 | 688 | G>C | No | TOPMed | |
| rs1576329915 | 688 | G>S | No | TOPMed | |
| rs151321164 | 689 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 689 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs949703993 | 691 | A>T | No | Ensembl | |
| rs916950645 | 692 | N>S | No |
TOPMed gnomAD |
|
| rs868734406 | 693 | S>F | No | Ensembl | |
| rs868734406 | 693 | S>Y | No | Ensembl | |
| TCGA novel | 696 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2152738650 | 697 | K>T | No | Ensembl | |
| rs1324689207 | 698 | T>I | No |
TOPMed gnomAD |
|
| rs778178013 | 699 | R>G | No |
ExAC gnomAD |
|
| rs1315356101 | 699 | R>I | No | gnomAD | |
| rs1315356101 | 699 | R>T | No | gnomAD | |
| rs758691888 | 700 | D>V | No |
ExAC gnomAD |
|
| rs1386796717 | 703 | E>Q | No | TOPMed | |
| rs748590127 | 704 | E>G | No |
ExAC TOPMed gnomAD |
|
| rs2152738572 | 704 | E>K | No | Ensembl | |
| rs558870768 | 705 | D>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2066885580 | 706 | D>N | No | Ensembl | |
| TCGA novel | 706 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel rs2066884840 |
709 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| TCGA novel | 709 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1232152114 | 711 | I>T | No | Ensembl | |
| rs2066883377 | 714 | S>F | No |
TOPMed gnomAD |
|
| rs750359743 | 715 | H>P | No |
ExAC TOPMed gnomAD |
|
| rs750359743 | 715 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs996228030 | 716 | P>A | No |
TOPMed gnomAD |
|
| rs996228030 | 716 | P>S | No |
TOPMed gnomAD |
|
| rs996228030 | 716 | P>T | No |
TOPMed gnomAD |
|
| rs1386091561 | 717 | V>A | No |
TOPMed gnomAD |
|
| rs761564260 | 718 | S>A | No |
ExAC TOPMed gnomAD |
|
|
COSM3584858 COSM3584857 |
718 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2066879775 | 723 | P>S | No | Ensembl | |
| rs550174450 | 724 | S>C | No |
1000Genomes ExAC gnomAD |
|
| rs769320828 | 725 | H>P | No |
ExAC TOPMed gnomAD |
|
| rs759035184 | 725 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs769320828 | 725 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs1452092342 | 726 | C>R | No | TOPMed | |
| rs754574674 | 727 | H>L | No |
ExAC TOPMed gnomAD |
|
| rs1439024550 | 729 | V>G | No | TOPMed | |
| rs771435761 | 731 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs2066875842 | 731 | P>S | No | gnomAD | |
| rs535043797 | 733 | V>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs535043797 | 733 | V>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs748390313 | 734 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs779236954 | 734 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs779236954 | 734 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
rs748390313 COSM3845725 COSM402330 |
734 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1481391670 | 735 | S>C | No | gnomAD | |
| rs774765289 | 736 | C>F | No |
ExAC gnomAD |
|
| rs2066352544 | 737 | D>G | No | Ensembl | |
| rs1192265445 | 737 | D>Y | No | gnomAD | |
| rs924540078 | 738 | N>S | No | gnomAD | |
| rs556087021 | 741 | C>R | No |
1000Genomes ExAC gnomAD |
|
| rs780194372 | 741 | C>S | No |
ExAC TOPMed gnomAD |
|
| rs780194372 | 741 | C>Y | No |
ExAC TOPMed gnomAD |
|
| rs1576300587 | 742 | M>I | No | Ensembl | |
| rs2066350525 | 742 | M>R | No | Ensembl | |
| TCGA novel | 742 | M>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM2153905 COSM3408090 |
743 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1559800746 | 744 | N>K | No | TOPMed | |
|
COSM4112016 COSM4112015 |
746 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs149189614 | 747 | H>L | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 748 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs776493940 | 748 | G>V | No |
TOPMed gnomAD |
|
| rs1464431641 | 752 | E>D | No | gnomAD | |
| rs1432751674 | 752 | E>G | No |
TOPMed gnomAD |
|
| rs375089105 | 754 | K>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1206068981 | 755 | S>P | No | gnomAD | |
| rs2066346123 | 756 | N>H | No | Ensembl | |
| rs758234318 | 756 | N>S | No |
ExAC gnomAD |
|
| rs1278160458 | 758 | P>L | No | gnomAD | |
| rs1278160458 | 758 | P>R | No | gnomAD | |
| COSM70022 | 759 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs752455542 | 760 | L>F | No |
ExAC gnomAD |
|
| rs764861966 | 762 | I>L | No |
ExAC gnomAD |
|
|
COSM1035951 COSM4867171 |
764 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1296488083 | 765 | K>N | No |
TOPMed gnomAD |
|
| rs754647936 | 766 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs147731994 | 768 | V>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs147731994 | 768 | V>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1408168771 | 770 | D>E | No |
TOPMed gnomAD |
|
| rs2066326335 | 770 | D>G | No | Ensembl | |
| rs1225536635 | 773 | S>F | No |
TOPMed gnomAD |
|
| rs778784672 | 773 | S>T | No |
ExAC gnomAD |
|
| rs2066324000 | 774 | D>G | No | Ensembl | |
| TCGA novel | 774 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2152727774 | 775 | P>S | No | Ensembl | |
| rs140412295 | 776 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs140412295 | 776 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs147131283 | 777 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs147131283 | 777 | P>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2066321222 | 779 | P>L | No | TOPMed | |
| rs114304782 | 780 | P>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1199659246 | 780 | P>R | No |
TOPMed gnomAD |
|
| rs114304782 | 780 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| COSM1035949 | 782 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2066319733 | 782 | R>S | No | gnomAD | |
| rs2152727713 | 783 | P>S | No | Ensembl | |
| rs370728492 | 785 | T>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs370728492 | 785 | T>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs776677008 | 786 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs776677008 | 786 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs34686140 | 786 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs770942290 | 787 | D>E | No |
ExAC gnomAD |
|
|
rs373403352 COSM4834041 |
788 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs2066316282 | 790 | K>Q | No | Ensembl | |
| rs2066315919 | 791 | H>R | No | Ensembl | |
| rs1439815106 | 792 | G>D | No |
TOPMed gnomAD |
|
| rs1439815106 | 792 | G>V | No |
TOPMed gnomAD |
|
| rs563069593 | 794 | S>L | No |
1000Genomes ExAC gnomAD |
|
| rs768518228 | 794 | S>P | No |
ExAC gnomAD |
|
| rs1363179777 | 796 | N>S | No | gnomAD | |
| rs775518027 | 797 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs116285171 | 798 | T>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs750014939 | 798 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs750014939 | 798 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs2066311789 | 799 | P>L | No | Ensembl | |
| rs946715677 | 799 | P>S | No |
TOPMed gnomAD |
|
| rs1364870832 | 802 | Y>N | No | gnomAD | |
| rs2066310333 | 803 | D>E | No |
TOPMed gnomAD |
|
| rs2066310690 | 803 | D>N | No | gnomAD | |
| rs2066310690 | 803 | D>Y | No | gnomAD | |
| TCGA novel | 805 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs756826270 | 807 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs2066308866 | 808 | P>A | No | TOPMed | |
| rs2066308866 | 808 | P>S | No | TOPMed | |
| rs1223438908 | 809 | L>F | No | gnomAD | |
| rs764482114 | 809 | L>S | No |
ExAC gnomAD |
|
| TCGA novel | 811 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs766566439 | 811 | E>V | No |
ExAC gnomAD |
|
|
COSM4813724 COSM445250 |
812 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs760853495 | 812 | D>N | No |
ExAC TOPMed gnomAD |
|
|
COSM1035947 COSM4865444 |
814 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs773165028 | 814 | F>S | No |
ExAC TOPMed gnomAD |
|
| rs1333896117 | 815 | D>G | No | gnomAD | |
| rs2065923732 | 815 | D>N | No | TOPMed | |
| rs1333896117 | 815 | D>V | No | gnomAD | |
| rs764154324 | 816 | A>S | No |
ExAC gnomAD |
|
| rs993013796 | 816 | A>V | No | gnomAD | |
| rs2152719408 | 817 | L>H | No | Ensembl | |
| rs2065921758 | 818 | P>S | No | TOPMed | |
| rs2065921758 | 818 | P>T | No | TOPMed | |
| rs2065921179 | 819 | P>L | No | TOPMed | |
| rs775526199 | 819 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs1417463067 | 820 | S>A | No | gnomAD | |
| rs1188462950 | 820 | S>F | No | gnomAD | |
| rs769730588 | 822 | P>Q | No |
ExAC gnomAD |
|
| rs746615675 | 823 | P>A | No |
ExAC gnomAD |
|
| rs746615675 | 823 | P>T | No |
ExAC gnomAD |
|
| rs770484907 | 824 | P>L | No |
ExAC gnomAD |
|
| rs1015871086 | 825 | P>Q | No |
TOPMed gnomAD |
|
| rs1015871086 | 825 | P>R | No |
TOPMed gnomAD |
|
| rs1204227046 | 826 | P>L | No | gnomAD | |
| rs982424659 | 827 | P>L | No | gnomAD | |
| rs2065917407 | 828 | A>T | No | gnomAD | |
|
COSM4814502 COSM445249 rs1293969486 |
828 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs776863118 | 829 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1359077385 | 830 | H>Y | No |
TOPMed gnomAD |
|
| rs1220111701 | 831 | S>N | No | TOPMed | |
|
COSM4828193 COSM4828194 |
832 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs114011929 | 833 | I>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs199556985 | 835 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs2065914824 | 836 | S>T | No | TOPMed | |
| rs997037002 | 837 | K>E | No |
TOPMed gnomAD |
|
| rs1439383506 | 837 | K>N | No |
TOPMed gnomAD |
|
| rs997037002 | 837 | K>Q | No |
TOPMed gnomAD |
|
| rs1576269974 | 837 | K>T | No | Ensembl | |
|
COSM3584854 COSM3584855 rs2065913247 |
838 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
| rs779345868 | 839 | P>S | No |
ExAC gnomAD |
|
| rs371614404 | 840 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1410358817 | 840 | G>V | No |
TOPMed gnomAD |
|
| rs1352785553 | 841 | S>C | No |
TOPMed gnomAD |
|
| rs754171520 | 842 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs2065911378 | 843 | S>G | No | TOPMed | |
| rs150795419 | 844 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs150795419 | 844 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM5029294 COSM5029293 rs139057989 |
844 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1296244897 | 845 | P>L | No | gnomAD | |
| rs761900979 | 846 | S>F | No |
ExAC TOPMed gnomAD |
|
| rs2065909021 | 847 | S>L | No | Ensembl | |
| rs1480257627 | 849 | Q>L | No | gnomAD | |
| rs1231143130 | 850 | D>G | No | gnomAD | |
| rs759470758 | 850 | D>N | No |
ExAC TOPMed |
|
| rs1231143130 | 850 | D>V | No | gnomAD | |
| rs759470758 | 850 | D>Y | No |
ExAC TOPMed |
|
| rs776553846 | 851 | L>I | No |
ExAC gnomAD |
|
| rs34510610 | 851 | L>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs746644112 | 854 | L>F | No |
ExAC TOPMed gnomAD |
|
|
COSM4396808 COSM4396809 rs1311016924 |
855 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| TCGA novel | 856 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs772882514 | 856 | S>T | No |
ExAC gnomAD |
|
| rs759558747 | 857 | D>E | No |
ExAC gnomAD |
|
| rs1373548156 | 857 | D>N | No |
TOPMed gnomAD |
|
| rs373458692 | 858 | P>L | No |
ESP gnomAD |
|
| rs373458692 | 858 | P>R | No |
ESP gnomAD |
|
| rs2064940143 | 858 | P>S | No | Ensembl | |
| rs1297879573 | 859 | F>L | No |
TOPMed gnomAD |
|
| rs2064938254 | 861 | D>V | No | gnomAD | |
| rs1343214918 | 862 | L>R | No | gnomAD | |
| rs995686990 | 865 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs1374010709 | 865 | G>S | No |
TOPMed gnomAD |
|
| rs753760778 | 868 | P>R | No |
ExAC gnomAD |
|
| rs1576192362 | 868 | P>S | No | Ensembl | |
| rs2064935328 | 869 | L>S | No | Ensembl | |
| rs1373949651 | 870 | P>L | No | gnomAD | |
| rs1193591257 | 871 | P>A | No |
TOPMed gnomAD |
|
| rs1428571574 | 871 | P>L | No | gnomAD | |
| rs1006542783 | 873 | R>G | No |
TOPMed gnomAD |
|
| rs760472180 | 873 | R>T | No |
ExAC TOPMed gnomAD |
|
| rs772791305 | 874 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs2064930963 | 876 | P>L | No |
TOPMed gnomAD |
|
| rs1485074587 | 876 | P>S | No |
TOPMed gnomAD |
|
| rs56304118 | 877 | G>D | No | TOPMed | |
| rs2064929977 | 878 | E>G | No | Ensembl | |
| rs761379551 | 880 | V>L | No |
ExAC gnomAD |
|
| rs2064929336 | 881 | K>E | No | gnomAD | |
| rs773842934 | 881 | K>T | No | ExAC | |
|
COSM4862927 COSM727464 |
882 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000120477 CA157897 rs35835913 VAR_039241 |
883 | N>D | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1225411678 | 883 | N>S | No | gnomAD | |
|
COSM4857128 COSM1136906 |
884 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 884 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs935096973 | 885 | T>I | No | gnomAD | |
| rs935096973 | 885 | T>K | No | gnomAD | |
| rs780572628 | 886 | S>L | No |
ExAC TOPMed gnomAD |
|
|
COSM267937 COSM4624910 |
887 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1364557230 | 888 | D>H | No | TOPMed | |
| rs954925332 | 889 | Y>C | No | TOPMed | |
| rs1472604572 | 889 | Y>N | No |
TOPMed gnomAD |
|
| rs2064924391 | 890 | D>G | No | Ensembl | |
| rs2064924744 | 890 | D>Y | No | gnomAD | |
| rs2064924023 | 891 | Q>E | No | Ensembl | |
| rs770102636 | 892 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs770102636 | 892 | L>I | No |
ExAC TOPMed gnomAD |
|
| rs2064922726 | 894 | S>P | No | Ensembl | |
| TCGA novel | 895 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2063549446 | 897 | D>G | No | gnomAD | |
| rs528582920 | 898 | G>C | No |
1000Genomes ExAC gnomAD |
|
| rs781629333 | 898 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs528582920 | 898 | G>R | No |
1000Genomes ExAC gnomAD |
|
| rs781629333 | 898 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs771354626 | 899 | S>P | No |
ExAC TOPMed gnomAD |
|
| rs2152660202 | 900 | Q>* | No | Ensembl | |
|
rs55821768 CA157899 RCV000120478 |
901 | A>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs138748034 | 902 | P>A | No |
ESP TOPMed gnomAD |
|
| rs778091833 | 902 | P>L | No |
ExAC gnomAD |
|
| rs778091833 | 902 | P>R | No |
ExAC gnomAD |
|
| rs138748034 | 902 | P>T | No |
ESP TOPMed gnomAD |
|
| rs1285096872 | 903 | A>T | No |
TOPMed gnomAD |
|
| rs2152660106 | 903 | A>V | No | Ensembl | |
| rs1481691621 | 904 | R>G | No | gnomAD | |
| rs199663847 | 905 | P>H | No | gnomAD | |
|
COSM3584852 COSM3584853 |
905 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2063546264 | 905 | P>T | No | TOPMed | |
| rs752792548 | 906 | P>A | No |
ExAC gnomAD |
|
| rs745555413 | 906 | P>H | No |
ExAC TOPMed gnomAD |
|
|
COSM4991812 COSM4991813 |
906 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2152660003 | 908 | P>S | No | Ensembl | |
| rs374708310 | 909 | R>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs374708310 | 909 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs371406651 | 909 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs371406651 | 909 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs115812092 | 910 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs115812092 | 910 | P>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs967246502 COSM3584850 COSM3584851 |
910 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
rs990086709 COSM6095853 COSM6095854 |
911 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs751238337 | 911 | R>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs751238337 | 911 | R>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs762514229 | 913 | T>S | No |
ExAC gnomAD |
|
| rs1471868957 | 914 | A>E | No |
TOPMed gnomAD |
|
| rs2152659790 | 914 | A>T | No | Ensembl | |
| rs1471868957 | 914 | A>V | No |
TOPMed gnomAD |
|
|
COSM4975386 COSM4975387 |
916 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs764592717 | 917 | I>M | No |
ExAC gnomAD |
|
| rs775048535 | 917 | I>V | No |
ExAC gnomAD |
|
| rs1177742521 | 918 | H>Q | No |
TOPMed gnomAD |
|
| rs1559707504 | 919 | H>R | No | TOPMed | |
| rs760092301 | 919 | H>Y | No | ExAC | |
| rs368623896 | 920 | R>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs1439595312 | 922 | P>A | No |
TOPMed gnomAD |
|
| rs1251363665 | 922 | P>L | No | gnomAD | |
| rs1405782555 | 923 | H>N | No | TOPMed | |
| rs200880425 | 923 | H>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1489913147 | 923 | H>R | No | gnomAD | |
| rs1042758589 | 924 | G>R | No | Ensembl | |
| TCGA novel | 925 | P>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM4810898 COSM1308348 |
926 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs36047688 | 927 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs368287315 | 928 | A>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs368287315 | 928 | A>G | No |
ESP ExAC TOPMed gnomAD |
|
|
rs2152659533 COSM228932 |
928 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs368287315 | 928 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs754950498 | 931 | N>D | No |
ExAC gnomAD |
|
| rs1576062967 | 932 | V>I | No | Ensembl | |
| rs781061651 | 933 | D>E | No |
ExAC gnomAD |
|
| rs1403840571 | 933 | D>N | No |
TOPMed gnomAD |
|
| rs1291410122 | 934 | A>E | No | TOPMed | |
| rs2063533777 | 934 | A>T | No | Ensembl | |
| rs1291410122 | 934 | A>V | No | TOPMed | |
| rs757081294 | 935 | K>E | No |
ExAC TOPMed |
|
| rs751348955 | 935 | K>R | No |
ExAC gnomAD |
|
| rs1184265185 | 936 | I>T | No | gnomAD | |
| rs2063531734 | 938 | K>E | No |
TOPMed gnomAD |
|
| TCGA novel | 939 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2152659254 | 940 | M>I | No | Ensembl | |
| rs2063530967 | 940 | M>L | No |
TOPMed gnomAD |
|
| rs2063530967 | 940 | M>V | No |
TOPMed gnomAD |
|
| TCGA novel | 941 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1157293013 | 941 | G>E | No | gnomAD | |
| rs1157293013 | 941 | G>V | No | gnomAD | |
| rs758080106 | 942 | E>D | No |
ExAC TOPMed gnomAD |
|
|
COSM1308347 COSM4810825 |
942 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs752223718 | 943 | G>C | No |
ExAC TOPMed gnomAD |
|
| rs145571986 | 945 | A>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs2152659172 | 945 | A>T | No | Ensembl | |
| rs145571986 | 945 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 946 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1271249912 | 947 | E>A | No | gnomAD | |
| rs1200423616 | 949 | V>G | No | gnomAD | |
| rs542131349 | 950 | K>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs777243226 | 951 | R>K | No |
ExAC gnomAD |
|
| rs2063527470 | 953 | L>V | No | Ensembl | |
| TCGA novel | 957 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs761190752 | 958 | N>I | No |
ExAC gnomAD |
|
| rs1364869262 | 959 | N>S | No |
TOPMed gnomAD |
|
| rs929260094 | 960 | V>F | No | gnomAD | |
| rs748411039 | 961 | E>D | No | ExAC | |
|
rs561530977 RCV000120479 CA157901 |
961 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs774400294 | 962 | V>F | No |
ExAC gnomAD |
|
| rs768806123 | 963 | A>S | No |
ExAC gnomAD |
|
|
COSM4785747 COSM1417543 rs1325540559 |
963 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs12492643 | 964 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs746886895 | 964 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs12492643 | 964 | R>W | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 966 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2063523729 | 967 | L>I | No | gnomAD | |
| rs267599521 | 968 | R>* | No |
ExAC gnomAD |
|
| rs1431577541 | 968 | R>Q | No |
TOPMed gnomAD |
|
|
COSM1308346 COSM4810558 |
969 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2063523015 | 970 | F>L | No |
TOPMed gnomAD |
|
| rs2063522513 | 971 | A>V | No | gnomAD | |
|
COSM3845724 rs1411423174 COSM3845723 |
973 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
| rs1411423174 | 973 | P>R | No | TOPMed | |
| rs1475193174 | 973 | P>S | No | gnomAD | |
| rs1576060563 | 977 | S>A | No | gnomAD | |
| rs1576060563 | 977 | S>P | No | gnomAD | |
|
rs1240617248 COSM1035943 COSM3730778 |
979 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1240617248 | 979 | R>G | No |
TOPMed gnomAD |
|
|
COSM5474530 COSM5474529 rs778405917 |
979 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1240617248 | 979 | R>S | No |
TOPMed gnomAD |
|
| TCGA novel | 983 | L>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q13191
6 regional properties for Q13191
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | CARD domain | 1143 - 1226 | IPR001315 |
| domain | NACHT nucleoside triphosphatase | 126 - 435 | IPR007111 |
| domain | FIIND domain | 850 - 1133 | IPR025307 |
| domain | CARD8/ASC/NALP1, CARD domain | 1143 - 1223 | IPR033516 |
| domain | NOD2, winged helix domain | 365 - 419 | IPR041075 |
| domain | NACHT, LRR and PYD domains-containing protein, helical domain HD2 | 421 - 532 | IPR041267 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.2.27 | Aminoacyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR23007 | CBL |
| PANTHER Subfamily | PTHR23007:SF3 | E3 UBIQUITIN-PROTEIN LIGASE CBL-B |
| PANTHER Protein Class |
ligase
metabolite interconversion enzyme |
|
| PANTHER Pathway Category |
EGF receptor signaling pathway c-Cbl |
|
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| membrane raft | Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| phosphotyrosine residue binding | Binding to a phosphorylated tyrosine residue within a protein. |
| receptor tyrosine kinase binding | Binding to a receptor that possesses protein tyrosine kinase activity. |
| SH3 domain binding | Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins. |
| ubiquitin protein ligase activity | Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond |
| zinc ion binding | Binding to a zinc ion (Zn). |
15 GO annotations of biological process
| Name | Definition |
|---|---|
| CD4-positive, alpha-beta T cell proliferation | The expansion of a CD4-positive, alpha-beta T cell population by cell division. |
| immune response | Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. |
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| negative regulation of CD4-positive, alpha-beta T cell proliferation | Any process that stops, prevents or reduces the frequency, rate or extent of CD4-positive, alpha-beta T cell proliferation. |
| negative regulation of T cell receptor signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of signaling pathways initiated by the cross-linking of an antigen receptor on a T cell. |
| NLS-bearing protein import into nucleus | The directed movement of a protein bearing a nuclear localization signal (NLS) from the cytoplasm into the nucleus, across the nuclear envelope. |
| positive regulation of protein catabolic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds. |
| positive regulation of protein ubiquitination | Any process that activates or increases the frequency, rate or extent of the addition of ubiquitin groups to a protein. |
| positive regulation of T cell anergy | Any process that activates or increases the frequency, rate, or extent of T cell anergy. |
| protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds. |
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
| regulation of platelet-derived growth factor receptor-alpha signaling pathway | Any process that modulates the frequency, rate or extent of platelet-derived growth factor receptor-alpha signaling pathway. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| T cell anergy | Any process contributing to anergy in T cells, a state of functional inactivation which is part of T cell tolerance induction. |
| T cell receptor signaling pathway | The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9ULV8 | CBLC | E3 ubiquitin-protein ligase CBL-C | Homo sapiens (Human) | SS |
| P22681 | CBL | E3 ubiquitin-protein ligase CBL | Homo sapiens (Human) | EV |
| P22682 | Cbl | E3 ubiquitin-protein ligase CBL | Mus musculus (Mouse) | SS |
| Q80XL1 | Cblc | E3 ubiquitin-protein ligase CBL-C | Mus musculus (Mouse) | SS |
| Q3TTA7 | Cblb | E3 ubiquitin-protein ligase CBL-B | Mus musculus (Mouse) | SS |
| G3V8H4 | Cblc | E3 ubiquitin-protein ligase CBL-C | Rattus norvegicus (Rat) | SS |
| Q8K4S7 | Cblb | E3 ubiquitin-protein ligase CBL-B | Rattus norvegicus (Rat) | SS |
| Q6DFR2 | cblb | E3 ubiquitin-protein ligase CBL-B | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MANSMNGRNP | GGRGGNPRKG | RILGIIDAIQ | DAVGPPKQAA | ADRRTVEKTW | KLMDKVVRLC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QNPKLQLKNS | PPYILDILPD | TYQHLRLILS | KYDDNQKLAQ | LSENEYFKIY | IDSLMKKSKR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AIRLFKEGKE | RMYEEQSQDR | RNLTKLSLIF | SHMLAEIKAI | FPNGQFQGDN | FRITKADAAE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FWRKFFGDKT | IVPWKVFRQC | LHEVHQISSG | LEAMALKSTI | DLTCNDYISV | FEFDIFTRLF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QPWGSILRNW | NFLAVTHPGY | MAFLTYDEVK | ARLQKYSTKP | GSYIFRLSCT | RLGQWAIGYV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TGDGNILQTI | PHNKPLFQAL | IDGSREGFYL | YPDGRSYNPD | LTGLCEPTPH | DHIKVTQEQY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ELYCEMGSTF | QLCKICAEND | KDVKIEPCGH | LMCTSCLTAW | QESDGQGCPF | CRCEIKGTEP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IIVDPFDPRD | EGSRCCSIID | PFGMPMLDLD | DDDDREESLM | MNRLANVRKC | TDRQNSPVTS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PGSSPLAQRR | KPQPDPLQIP | HLSLPPVPPR | LDLIQKGIVR | SPCGSPTGSP | KSSPCMVRKQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DKPLPAPPPP | LRDPPPPPPE | RPPPIPPDNR | LSRHIHHVES | VPSRDPPMPL | EAWCPRDVFG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TNQLVGCRLL | GEGSPKPGIT | ASSNVNGRHS | RVGSDPVLMR | KHRRHDLPLE | GAKVFSNGHL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GSEEYDVPPR | LSPPPPVTTL | LPSIKCTGPL | ANSLSEKTRD | PVEEDDDEYK | IPSSHPVSLN |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SQPSHCHNVK | PPVRSCDNGH | CMLNGTHGPS | SEKKSNIPDL | SIYLKGDVFD | SASDPVPLPP |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ARPPTRDNPK | HGSSLNRTPS | DYDLLIPPLG | EDAFDALPPS | LPPPPPPARH | SLIEHSKPPG |
| 850 | 860 | 870 | 880 | 890 | 900 |
| SSSRPSSGQD | LFLLPSDPFV | DLASGQVPLP | PARRLPGENV | KTNRTSQDYD | QLPSCSDGSQ |
| 910 | 920 | 930 | 940 | 950 | 960 |
| APARPPKPRP | RRTAPEIHHR | KPHGPEAALE | NVDAKIAKLM | GEGYAFEEVK | RALEIAQNNV |
| 970 | 980 | ||||
| EVARSILREF | AFPPPVSPRL | NL |