Q13489
Gene name |
BIRC3 (API2, MIHC, RNF49) |
Protein name |
Baculoviral IAP repeat-containing protein 3 |
Names |
EC 2.3.2.27 , Apoptosis inhibitor 2 , API2 , Cellular inhibitor of apoptosis 2 , C-IAP2 , IAP homolog C , Inhibitor of apoptosis protein 1 , hIAP-1 , hIAP1 , RING finger protein 49 , RING-type E3 ubiquitin transferase BIRC3 , TNFR2-TRAF-signaling complex protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:330 |
EC number |
2.3.2.27: Aminoacyltransferases |
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Target domain |
557-602 (RING domain) |
Relief mechanism |
Ligand binding |
Assay |
|
Target domain |
557-602 (RING domain) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure

Activated structure

614 variants for Q13489
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs764638130 | 3 | I>L | No |
ExAC TOPMed gnomAD |
|
rs1435803547 | 3 | I>T | No | gnomAD | |
rs764638130 | 3 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1050770403 | 4 | V>A | No |
TOPMed gnomAD |
|
rs376445512 | 4 | V>I | No |
ESP TOPMed gnomAD |
|
rs376445512 | 4 | V>L | No |
ESP TOPMed gnomAD |
|
TCGA novel | 6 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1445029472 | 6 | N>T | No | gnomAD | |
COSM259635 | 7 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1951061702 | 8 | I>M | No | TOPMed | |
TCGA novel | 9 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1369623604 | 9 | F>V | No | gnomAD | |
rs1951061778 | 10 | L>S | No | gnomAD | |
rs142523935 | 11 | S>P | No |
ESP ExAC TOPMed gnomAD |
|
rs2135784127 | 13 | L>F | No | Ensembl | |
rs766043554 | 14 | M>K | No |
ExAC TOPMed gnomAD |
|
rs766043554 | 14 | M>T | No |
ExAC TOPMed gnomAD |
|
rs1951061872 | 14 | M>V | No | TOPMed | |
rs1481000149 | 15 | K>E | No | TOPMed | |
rs186307109 | 17 | A>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs186307109 | 17 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs186307109 | 17 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1197601579 | 18 | N>S | No | TOPMed | |
rs1238807475 | 19 | T>M | No | gnomAD | |
rs1238807475 | 19 | T>R | No | gnomAD | |
rs1339391963 | 21 | E>G | No | gnomAD | |
rs370738985 | 25 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
COSM1746003 rs370738985 |
25 | D>Y | urinary_tract [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
rs375640711 | 26 | L>F | No |
ESP ExAC TOPMed gnomAD |
|
rs2135784182 | 27 | S>* | No | Ensembl | |
rs775814824 | 27 | S>A | No |
ExAC gnomAD |
|
rs761068492 | 28 | C>S | No |
ExAC gnomAD |
|
rs1438152538 | 32 | R>* | No | gnomAD | |
rs1327480353 | 32 | R>L | No | gnomAD | |
COSM4017239 rs2135784205 |
33 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA Cosmic |
COSM5655678 | 34 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1220112786 | 35 | T>K | No |
TOPMed gnomAD |
|
rs1220112786 | 35 | T>M | No |
TOPMed gnomAD |
|
rs1035350946 | 35 | T>P | No | TOPMed | |
rs2135784220 | 37 | S>F | No | Ensembl | |
rs1951062721 | 38 | T>A | No | TOPMed | |
rs1294234452 | 39 | F>L | No | TOPMed | |
rs2135784228 | 40 | P>L | No | Ensembl | |
COSM1704480 | 40 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1565321648 | 41 | A>G | No | Ensembl | |
rs777182261 | 41 | A>S | No |
ExAC gnomAD |
|
rs777182261 | 41 | A>T | No |
ExAC gnomAD |
|
rs1268151772 | 43 | V>L | No | gnomAD | |
rs2135784245 | 44 | P>L | No | Ensembl | |
rs1341226781 | 46 | S>* | No | gnomAD | |
rs1379964530 | 46 | S>P | No |
TOPMed gnomAD |
|
rs1215021212 | 48 | R>K | No | gnomAD | |
rs1951063148 | 49 | S>R | No | Ensembl | |
rs1272544210 | 49 | S>R | No | gnomAD | |
rs978016131 | 50 | L>I | No |
TOPMed gnomAD |
|
rs978016131 | 50 | L>V | No |
TOPMed gnomAD |
|
rs2135784263 | 52 | R>C | No | Ensembl | |
rs762397304 | 52 | R>H | No |
ExAC TOPMed gnomAD |
|
rs2135784271 | 53 | A>T | No | Ensembl | |
rs1254995766 | 54 | G>A | No | gnomAD | |
rs1254995766 | 54 | G>D | No | gnomAD | |
TCGA novel | 55 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs765765029 | 56 | Y>C | No |
ExAC gnomAD |
|
COSM3397353 | 57 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs759088779 | 58 | T>A | No |
ExAC gnomAD |
|
rs759088779 | 58 | T>S | No |
ExAC gnomAD |
|
COSM4899955 rs1470578400 |
59 | G>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs2135784294 | 59 | G>S | No | Ensembl | |
rs370995428 | 60 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
rs1051348346 | 62 | D>V | No | Ensembl | |
rs933852178 | 62 | D>Y | No | Ensembl | |
rs1174684503 | 63 | K>M | No |
TOPMed gnomAD |
|
rs147902919 | 65 | K>R | No |
ESP ExAC TOPMed gnomAD |
|
rs147902919 | 65 | K>T | No |
ESP ExAC TOPMed gnomAD |
|
rs1565321701 | 68 | C>R | No | Ensembl | |
rs1951063626 | 68 | C>Y | No | Ensembl | |
rs753649715 | 69 | C>R | No |
ExAC TOPMed gnomAD |
|
rs2135784332 | 69 | C>Y | No | Ensembl | |
rs757252168 | 70 | G>A | No |
ExAC gnomAD |
|
rs2135784351 | 71 | L>V | No | Ensembl | |
rs140520103 | 72 | M>I | No | ESP | |
rs746013026 | 73 | L>R | No |
ExAC gnomAD |
|
rs1951063777 | 74 | D>G | No | TOPMed | |
rs942391221 | 75 | N>K | No | Ensembl | |
TCGA novel | 75 | N>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs924735278 | 76 | W>L | No | gnomAD | |
rs2135784365 | 77 | K>NT* | No | Ensembl | |
rs1431281475 COSM5147713 |
77 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs1292563262 | 78 | R>K | No | gnomAD | |
rs1332537125 | 78 | R>S | No | gnomAD | |
rs1292563262 | 78 | R>T | No | gnomAD | |
rs1951063947 | 79 | G>E | No | TOPMed | |
rs1951064037 | 80 | D>A | No |
TOPMed gnomAD |
|
rs150392143 | 80 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
rs2135784379 | 80 | D>H | No | Ensembl | |
rs780321660 | 81 | S>G | No |
ExAC TOPMed gnomAD |
|
rs1200982745 | 81 | S>N | No |
TOPMed gnomAD |
|
rs1200982745 | 81 | S>T | No |
TOPMed gnomAD |
|
TCGA novel | 82 | P>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2135784395 | 83 | T>I | No | Ensembl | |
TCGA novel | 85 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1204767907 | 85 | K>R | No | gnomAD | |
TCGA novel | 85 | K>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1259982097 | 86 | H>Y | No |
TOPMed gnomAD |
|
rs1951064396 | 87 | K>E | No | Ensembl | |
rs7930386 | 87 | K>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1257297950 | 88 | K>M | No |
TOPMed gnomAD |
|
TCGA novel | 89 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1951064563 | 90 | Y>* | No | TOPMed | |
TCGA novel | 90 | Y>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1951064539 | 90 | Y>H | No | gnomAD | |
rs748553156 | 91 | P>R | No | ExAC | |
rs1167755679 | 93 | C>F | No | gnomAD | |
rs1368477085 | 94 | R>S | No | gnomAD | |
rs1951064710 | 94 | R>T | No | gnomAD | |
rs1452514375 | 96 | V>F | No | gnomAD | |
rs1452514375 | 96 | V>I | No | gnomAD | |
rs1951064805 | 97 | Q>R | No |
TOPMed gnomAD |
|
TCGA novel | 98 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs769968870 | 98 | S>N | No | Ensembl | |
TCGA novel | 98 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1951065082 | 102 | V>D | No |
TOPMed gnomAD |
|
rs922637067 | 102 | V>F | No |
TOPMed gnomAD |
|
rs1951065082 | 102 | V>G | No |
TOPMed gnomAD |
|
rs922637067 | 102 | V>I | No |
TOPMed gnomAD |
|
rs1323037598 | 104 | N>K | No | TOPMed | |
rs1003047322 | 104 | N>S | No | Ensembl | |
rs547723750 | 105 | L>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs759147879 | 107 | A>T | No |
ExAC gnomAD |
|
rs1951065251 | 108 | T>I | No | TOPMed | |
rs1416464681 | 109 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs149102827 | 112 | T>A | No |
ESP ExAC TOPMed gnomAD |
|
rs1951065418 | 112 | T>S | No | gnomAD | |
COSM1350355 | 115 | S>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1951065453 | 115 | S>F | No | gnomAD | |
rs1188255948 | 117 | V>E | No |
TOPMed gnomAD |
|
rs760407229 | 117 | V>I | No |
ExAC TOPMed gnomAD |
|
COSM4017240 | 118 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 119 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs757121436 | 119 | N>Y | No |
ExAC TOPMed gnomAD |
|
rs765259590 | 120 | S>F | No |
ExAC TOPMed gnomAD |
|
rs765259590 | 120 | S>Y | No |
ExAC TOPMed gnomAD |
|
COSM1561164 rs572690185 |
123 | S>L | large_intestine [Cosmic] | No |
cosmic curated gnomAD |
rs1393559808 | 123 | S>T | No | TOPMed | |
rs750469359 | 125 | L>F | No |
ExAC gnomAD |
|
rs1173728754 | 126 | P>L | No |
TOPMed gnomAD |
|
rs1173728754 | 126 | P>Q | No |
TOPMed gnomAD |
|
rs758535139 | 127 | G>S | No |
ExAC gnomAD |
|
rs368897232 | 128 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
rs368897232 | 128 | T>R | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 130 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs147101958 | 130 | N>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 132 | G>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs560628396 | 133 | Y>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs781386350 | 133 | Y>H | No |
ExAC gnomAD |
|
rs770192717 | 134 | F>I | No |
ExAC gnomAD |
|
rs200590873 | 135 | R>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs749825246 | 135 | R>H | No |
ExAC TOPMed gnomAD |
|
rs1389638300 | 136 | G>R | No | gnomAD | |
rs1951066290 | 137 | S>F | No | Ensembl | |
rs775169948 | 137 | S>T | No |
ExAC gnomAD |
|
rs1438247839 | 138 | Y>* | No | TOPMed | |
rs1183881756 | 138 | Y>F | No | TOPMed | |
rs1241060537 | 141 | S>C | No | gnomAD | |
COSM3442660 | 142 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1303042512 | 142 | P>T | No | gnomAD | |
COSM4017241 | 143 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1951066503 | 143 | S>P | No |
TOPMed gnomAD |
|
rs1951066503 | 143 | S>T | No |
TOPMed gnomAD |
|
COSM4847220 | 145 | P>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs761735307 | 146 | V>A | No |
ExAC TOPMed gnomAD |
|
rs761735307 | 146 | V>G | No |
ExAC TOPMed gnomAD |
|
rs1951066720 | 147 | N>K | No | TOPMed | |
TCGA novel | 148 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs986657671 | 148 | S>Y | No | TOPMed | |
rs1785031981 | 149 | R>G | No |
TOPMed gnomAD |
|
COSM1297565 | 149 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1194596520 | 150 | A>E | No | gnomAD | |
TCGA novel | 153 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs750320348 | 154 | F>S | No |
ExAC gnomAD |
|
rs1392932947 | 155 | S>F | No | gnomAD | |
rs758340219 | 155 | S>P | No |
ExAC gnomAD |
|
rs766408639 | 157 | L>V | No |
ExAC TOPMed gnomAD |
|
rs141741107 | 158 | M>V | No |
ESP ExAC TOPMed gnomAD |
|
rs1951067133 | 159 | R>G | No | TOPMed | |
rs755158444 | 159 | R>S | No |
ExAC gnomAD |
|
rs897653950 | 160 | S>I | No |
TOPMed gnomAD |
|
rs897653950 | 160 | S>N | No |
TOPMed gnomAD |
|
rs1389919038 | 161 | S>A | No | Ensembl | |
rs1951067304 | 161 | S>F | No | gnomAD | |
rs146254676 | 162 | Y>* | No |
ESP ExAC TOPMed gnomAD |
|
rs1951067454 | 163 | H>Y | No | Ensembl | |
COSM922221 | 169 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 172 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1951067624 | 174 | L>I | No | TOPMed | |
rs1951067624 | 174 | L>V | No | TOPMed | |
rs749770154 | 175 | T>I | No |
ExAC TOPMed gnomAD |
|
rs1951067777 | 176 | F>V | No | TOPMed | |
rs771589672 | 178 | T>A | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 180 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs746558818 | 180 | P>T | No |
ExAC gnomAD |
|
TCGA novel | 182 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 185 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs769568651 | 185 | S>T | No |
ExAC TOPMed gnomAD |
|
rs1469494339 | 186 | P>S | No | gnomAD | |
rs2135784650 | 187 | T>A | No | Ensembl | |
rs1274252278 | 187 | T>I | No |
TOPMed gnomAD |
|
rs1274252278 | 187 | T>R | No |
TOPMed gnomAD |
|
rs1951068525 | 188 | D>G | No | TOPMed | |
rs147996132 | 188 | D>H | No |
ESP ExAC TOPMed gnomAD |
|
rs147996132 | 188 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
rs566770230 | 190 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1951068796 | 191 | K>E | No | Ensembl | |
rs1951068828 | 192 | A>T | No | Ensembl | |
rs1466182381 | 196 | Y>H | No | gnomAD | |
rs759714681 | 197 | I>V | No |
ExAC TOPMed gnomAD |
|
rs1438790963 | 198 | G>A | No | gnomAD | |
rs1438790963 | 198 | G>E | No | gnomAD | |
rs1951067576 | 198 | G>Y | No | Ensembl | |
rs767508008 | 199 | P>A | No |
ExAC gnomAD |
|
rs1361678151 | 200 | G>A | No |
TOPMed gnomAD |
|
rs1361678151 | 200 | G>E | No |
TOPMed gnomAD |
|
COSM1676385 | 201 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs752896863 | 202 | R>S | No |
ExAC TOPMed gnomAD |
|
rs1237634037 | 203 | V>A | No | Ensembl | |
rs1951069332 | 204 | A>V | No |
TOPMed gnomAD |
|
rs756320829 | 205 | C>F | No |
ExAC gnomAD |
|
rs778148792 | 205 | C>W | No |
ExAC gnomAD |
|
rs76109257 | 207 | A>S | No |
ExAC gnomAD |
|
rs76109257 | 207 | A>T | No |
ExAC gnomAD |
|
rs1344380953 | 208 | C>R | No |
TOPMed gnomAD |
|
rs959725789 | 209 | G>D | No | Ensembl | |
rs757809452 | 209 | G>R | No |
ExAC TOPMed gnomAD |
|
rs757809452 | 209 | G>S | No |
ExAC TOPMed gnomAD |
|
rs779632081 | 212 | L>F | No |
ExAC gnomAD |
|
COSM5147714 | 212 | L>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1951069650 | 214 | N>S | No | Ensembl | |
COSM1731948 rs768158423 |
217 | P>L | NS Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
rs768158423 | 217 | P>R | No |
ExAC gnomAD |
|
rs747799588 | 220 | N>S | No |
ExAC TOPMed gnomAD |
|
rs1055928157 | 222 | M>I | No | Ensembl | |
rs1474805083 | 222 | M>V | No |
TOPMed gnomAD |
|
rs769356523 | 227 | R>G | No |
ExAC TOPMed gnomAD |
|
rs369162016 | 228 | H>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs369162016 | 228 | H>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs770838087 | 230 | P>S | No |
ExAC gnomAD |
|
rs1320326385 | 233 | P>A | No | TOPMed | |
rs1320326385 | 233 | P>S | No | TOPMed | |
rs768016837 | 234 | F>L | No |
ExAC TOPMed gnomAD |
|
rs767593360 | 235 | I>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1951070210 | 236 | E>D | No | Ensembl | |
rs752740710 | 237 | N>K | No |
ExAC gnomAD |
|
rs141682743 | 238 | Q>E | No |
ESP ExAC TOPMed gnomAD |
|
rs764452461 | 239 | L>P | No |
ExAC gnomAD |
|
rs764452461 | 239 | L>R | No |
ExAC gnomAD |
|
rs2095311901 | 240 | Q>R | No | TOPMed | |
rs150502736 | 241 | D>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs150502736 | 241 | D>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1021677759 | 244 | R>G | No |
TOPMed gnomAD |
|
rs765714914 | 244 | R>K | No |
ExAC gnomAD |
|
rs747731925 | 245 | Y>* | No |
ExAC gnomAD |
|
rs750897944 | 246 | T>R | No |
ExAC gnomAD |
|
TCGA novel | 247 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1260062391 | 247 | V>I | No |
TOPMed gnomAD |
|
rs1951070527 | 248 | S>A | No | Ensembl | |
COSM73837 rs373514370 |
248 | S>C | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1243376162 | 249 | N>D | No |
TOPMed gnomAD |
|
rs1951070669 | 249 | N>K | No | TOPMed | |
rs747649672 | 249 | N>S | No |
ExAC gnomAD |
|
rs755783862 | 250 | L>V | No |
ExAC TOPMed gnomAD |
|
rs777456061 | 251 | S>G | No |
ExAC gnomAD |
|
rs755873313 | 252 | M>L | No | Ensembl | |
rs1407377931 | 254 | T>A | No | gnomAD | |
rs967841484 | 255 | H>Q | No | Ensembl | |
rs1951070917 | 255 | H>R | No | Ensembl | |
rs571701272 | 255 | H>Y | No |
1000Genomes ExAC gnomAD |
|
rs770645813 | 256 | A>V | No |
ExAC gnomAD |
|
rs774161644 | 257 | A>S | No |
ExAC TOPMed gnomAD |
|
COSM4017242 | 258 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1951071030 | 258 | R>L | No | TOPMed | |
rs2135784831 | 258 | R>S | No | Ensembl | |
rs1951071056 | 260 | K>E | No | gnomAD | |
VAR_021069 rs2276113 |
260 | K>R | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
TCGA novel | 262 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs771950433 | 263 | F>L | No |
ExAC TOPMed gnomAD |
|
rs775611041 | 264 | N>I | No |
ExAC TOPMed gnomAD |
|
rs1370541388 | 265 | W>C | No | gnomAD | |
rs760734130 | 265 | W>R | No |
ExAC gnomAD |
|
rs201026275 | 266 | P>R | No |
ExAC TOPMed gnomAD |
|
rs377560709 | 266 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
rs1951071366 | 267 | S>F | No | Ensembl | |
rs1231858204 | 268 | S>I | No | gnomAD | |
rs1431652592 | 269 | V>G | No | TOPMed | |
rs753471138 | 269 | V>I | No | gnomAD | |
rs1203749799 | 270 | L>P | No | gnomAD | |
rs370712639 | 272 | N>D | No |
ESP TOPMed gnomAD |
|
rs1456555442 | 273 | P>L | No | gnomAD | |
rs201739570 | 273 | P>T | No | 1000Genomes | |
COSM279163 rs1951071731 |
278 | S>R | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
COSM279163 rs1180732396 |
278 | S>R | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs1050193516 | 278 | S>T | No | Ensembl | |
rs1288469434 | 279 | A>E | No | Ensembl | |
rs1288469434 | 279 | A>V | No | Ensembl | |
rs1470903630 | 280 | G>R | No | TOPMed | |
TCGA novel | 281 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1381204334 | 283 | Y>S | No | gnomAD | |
rs766775968 | 285 | G>D | No |
ExAC TOPMed gnomAD |
|
rs766775968 | 285 | G>V | No |
ExAC TOPMed gnomAD |
|
rs894701627 | 286 | N>S | No | Ensembl | |
rs1325194761 | 288 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1951073077 | 289 | D>G | No | TOPMed | |
rs2135785013 | 291 | K>R | No | 1000Genomes | |
rs1951073108 | 293 | F>V | No | Ensembl | |
rs760066891 | 294 | C>Y | No |
ExAC TOPMed gnomAD |
|
rs200850963 | 296 | D>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM4017243 | 297 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1356057510 | 300 | R>K | No |
TOPMed gnomAD |
|
rs1219202535 | 301 | C>G | No | gnomAD | |
rs1408985207 | 306 | D>N | No |
TOPMed gnomAD |
|
rs1951073398 | 309 | W>C | No | TOPMed | |
rs1565322147 | 309 | W>R | No | Ensembl | |
rs1951073423 | 311 | Q>E | No | Ensembl | |
rs2135785046 | 311 | Q>H | No | Ensembl | |
rs1951073446 | 311 | Q>R | No | Ensembl | |
rs1951073480 | 312 | H>R | No | TOPMed | |
TCGA novel | 313 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1416796624 | 315 | W>L | No |
TOPMed gnomAD |
|
rs1164889210 | 318 | R>G | No |
TOPMed gnomAD |
|
rs1257880413 | 320 | E>K | No | TOPMed | |
rs1482653478 | 321 | Y>C | No | TOPMed | |
rs373892386 | 322 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs771233410 | 323 | I>R | No |
ExAC TOPMed gnomAD |
|
rs771233410 | 323 | I>T | No |
ExAC TOPMed gnomAD |
|
rs1951102781 | 324 | R>T | No | Ensembl | |
rs1423980533 | 327 | G>E | No | gnomAD | |
rs899691911 | 328 | Q>* | No |
TOPMed gnomAD |
|
TCGA novel | 328 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs147320536 | 328 | Q>R | No |
ESP TOPMed |
|
rs775905642 | 329 | E>A | No |
TOPMed gnomAD |
|
rs775905642 | 329 | E>G | No |
TOPMed gnomAD |
|
rs1951102916 | 329 | E>K | No | Ensembl | |
TCGA novel | 330 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs746893155 | 331 | I>T | No |
ExAC TOPMed gnomAD |
|
rs200082566 | 332 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
rs764613103 | 332 | R>H | No |
ExAC TOPMed gnomAD |
|
rs141069802 | 334 | V>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1365915992 | 336 | A>D | No | gnomAD | |
rs1365915992 | 336 | A>V | No | gnomAD | |
rs1411725535 | 337 | S>R | No |
TOPMed gnomAD |
|
rs1951103289 | 337 | S>R | No | Ensembl | |
rs921649894 | 337 | S>T | No | TOPMed | |
rs766098781 | 338 | Y>H | No |
ExAC TOPMed gnomAD |
|
rs766098781 | 338 | Y>N | No |
ExAC TOPMed gnomAD |
|
rs540273624 | 339 | P>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs540273624 | 339 | P>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1951103398 | 339 | P>S | No |
TOPMed gnomAD |
|
rs1340397338 | 340 | H>N | No | gnomAD | |
rs1340397338 | 340 | H>Y | No | gnomAD | |
rs754759697 | 343 | E>K | No |
ExAC TOPMed gnomAD |
|
rs754759697 | 343 | E>Q | No |
ExAC TOPMed gnomAD |
|
rs1951103625 | 344 | Q>R | No | Ensembl | |
rs757305247 | 346 | L>V | No |
ExAC gnomAD |
|
rs1481844237 | 347 | S>F | No |
TOPMed gnomAD |
|
rs372905086 | 350 | D>G | No |
ESP ExAC gnomAD |
|
rs997430245 | 350 | D>N | No | Ensembl | |
rs997430245 | 350 | D>Y | No | Ensembl | |
rs1306041646 | 352 | P>Q | No | TOPMed | |
rs758642472 | 353 | G>R | No |
ExAC gnomAD |
|
rs953349466 | 354 | D>E | No |
TOPMed gnomAD |
|
COSM922222 | 354 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1951112345 | 355 | E>D | No | Ensembl | |
rs555493036 | 356 | N>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1392996629 | 357 | A>T | No | TOPMed | |
rs1951112426 | 358 | E>Q | No | Ensembl | |
rs747444965 | 358 | E>V | No |
ExAC gnomAD |
|
rs868604617 | 360 | S>L | No | Ensembl | |
rs769041751 | 360 | S>P | No |
ExAC TOPMed gnomAD |
|
rs377252240 | 361 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
rs755300733 | 362 | I>T | No |
ExAC TOPMed gnomAD |
|
rs144815282 | 364 | F>S | No |
ESP ExAC gnomAD |
|
COSM3868270 rs1951132148 |
365 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
rs1237671522 | 366 | P>L | No | gnomAD | |
COSM685797 rs748637898 |
368 | E>K | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs770469557 | 369 | D>H | No |
ExAC gnomAD |
|
rs770469557 | 369 | D>N | No |
ExAC gnomAD |
|
rs1034908456 | 369 | D>V | No | TOPMed | |
rs770469557 | 369 | D>Y | No |
ExAC gnomAD |
|
rs745436136 | 370 | H>R | No |
ExAC gnomAD |
|
rs1005862733 | 371 | S>T | No | TOPMed | |
rs771836966 | 372 | E>G | No |
ExAC gnomAD |
|
rs373338711 | 374 | A>S | No |
ESP TOPMed gnomAD |
|
rs373338711 | 374 | A>T | No |
ESP TOPMed gnomAD |
|
rs1463583457 | 375 | I>V | No | TOPMed | |
rs768458534 | 377 | M>R | No |
ExAC TOPMed gnomAD |
|
rs768458534 | 377 | M>T | No |
ExAC TOPMed gnomAD |
|
rs760250405 | 377 | M>V | No |
ExAC TOPMed gnomAD |
|
rs1951132617 | 378 | N>S | No | gnomAD | |
rs776315214 | 379 | T>A | No |
ExAC gnomAD |
|
rs761718383 | 379 | T>I | No |
ExAC TOPMed gnomAD |
|
rs544163875 | 381 | V>A | No | 1000Genomes | |
rs2135789033 | 382 | I>V | No | Ensembl | |
rs145818257 | 384 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
rs750500487 | 385 | A>S | No |
ExAC TOPMed gnomAD |
|
rs750500487 | 385 | A>T | No |
ExAC TOPMed gnomAD |
|
rs12222256 | 386 | V>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
VAR_049536 rs12222256 |
386 | V>M | No |
UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs755173347 | 388 | M>I | No |
ExAC gnomAD |
|
rs1238990244 | 388 | M>K | No |
TOPMed gnomAD |
|
rs1257429618 | 391 | S>N | No |
TOPMed gnomAD |
|
TCGA novel | 392 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs923662883 | 393 | S>N | No | Ensembl | |
rs1456464212 | 394 | L>V | No | TOPMed | |
TCGA novel | 396 | K>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM6067024 | 400 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
RCV000953293 rs17881197 VAR_021070 |
401 | R>K | No |
ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs559399763 | 403 | I>L | No |
1000Genomes ExAC gnomAD |
|
rs1425711656 | 403 | I>T | No | gnomAD | |
rs559399763 | 403 | I>V | No |
1000Genomes ExAC gnomAD |
|
rs1951133753 | 405 | A>G | No | Ensembl | |
TCGA novel | 405 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1951133839 | 406 | T>P | No | Ensembl | |
rs749826929 | 408 | E>D | No |
ExAC TOPMed gnomAD |
|
rs1193655352 | 408 | E>K | No | gnomAD | |
rs1478543681 | 410 | Y>C | No |
TOPMed gnomAD |
|
rs201361356 | 411 | R>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1951134221 | 412 | L>R | No | Ensembl | |
rs1242006697 | 414 | N>S | No | TOPMed | |
rs947413657 | 415 | D>E | No |
TOPMed gnomAD |
|
rs1951134365 | 416 | L>F | No | Ensembl | |
rs779461718 | 417 | V>E | No |
ExAC TOPMed gnomAD |
|
rs779461718 | 417 | V>G | No |
ExAC TOPMed gnomAD |
|
rs1330209632 | 417 | V>L | No |
TOPMed gnomAD |
|
COSM685796 | 419 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1565324041 | 420 | L>V | No | Ensembl | |
rs1392177670 | 421 | L>R | No | TOPMed | |
rs1295816034 | 422 | N>D | No | TOPMed | |
rs369562282 | 422 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
rs898645561 | 423 | A>V | No | gnomAD | |
rs748006743 | 425 | D>Y | No |
ExAC gnomAD |
|
rs769710195 | 427 | I>K | No |
ExAC gnomAD |
|
rs1951134967 | 427 | I>L | No | TOPMed | |
rs551049741 | 432 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs994266696 | 432 | R>K | No | Ensembl | |
rs1025701599 | 433 | E>A | No | Ensembl | |
rs151072309 | 433 | E>D | No |
ESP ExAC TOPMed gnomAD |
|
rs1951135205 | 433 | E>K | No | TOPMed | |
rs766428761 | 434 | R>K | No |
ExAC gnomAD |
|
rs774340936 | 435 | A>T | No |
ExAC gnomAD |
|
rs767698113 | 438 | E>D | No |
ExAC gnomAD |
|
rs753096055 | 439 | K>* | No |
ExAC gnomAD |
|
rs753096055 | 439 | K>E | No |
ExAC gnomAD |
|
rs571142895 | 439 | K>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs571142895 | 439 | K>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1591523739 | 441 | S>P | No | Ensembl | |
TCGA novel | 442 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 443 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM466204 | 443 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs764505569 | 444 | L>S | No |
ExAC gnomAD |
|
COSM922224 | 444 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1395199228 | 446 | L>S | No |
TOPMed gnomAD |
|
rs754305891 | 447 | I>T | No |
ExAC gnomAD |
|
rs759842920 | 448 | R>P | No |
ExAC TOPMed gnomAD |
|
rs759842920 COSM171761 |
448 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs757753179 | 448 | R>W | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 449 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1394418106 | 449 | K>R | No | gnomAD | |
TCGA novel | 451 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1338809240 | 451 | R>S | No | gnomAD | |
rs1383751307 | 452 | M>L | No | gnomAD | |
rs754391604 | 453 | A>G | No |
ExAC TOPMed gnomAD |
|
rs751069462 | 453 | A>S | No |
ExAC gnomAD |
|
rs910399438 | 454 | L>F | No | Ensembl | |
COSM922225 | 456 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1356362773 | 457 | H>N | No | gnomAD | |
rs1356362773 | 457 | H>Y | No | gnomAD | |
rs1951191941 | 459 | T>N | No | Ensembl | |
rs1342231567 | 461 | V>I | No | gnomAD | |
rs1201621698 | 462 | I>L | No | gnomAD | |
rs777510978 | 464 | I>V | No |
ExAC gnomAD |
|
rs897547684 | 466 | D>A | No |
TOPMed gnomAD |
|
rs1239776617 | 466 | D>E | No |
TOPMed gnomAD |
|
rs897547684 | 466 | D>G | No |
TOPMed gnomAD |
|
rs1037418239 | 466 | D>H | No | Ensembl | |
rs1591525814 | 467 | S>G | No | Ensembl | |
rs377413987 | 467 | S>N | No |
ESP ExAC TOPMed gnomAD |
|
rs377413987 | 467 | S>T | No |
ESP ExAC TOPMed gnomAD |
|
rs1951192513 | 471 | A>S | No | TOPMed | |
rs1184660231 | 472 | G>E | No | TOPMed | |
COSM294168 rs145025961 |
472 | G>R | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs993209498 | 473 | I>V | No | Ensembl | |
rs1046482558 | 475 | N>T | No | Ensembl | |
rs760957345 | 477 | Q>K | No |
ExAC gnomAD |
|
rs200653824 | 477 | Q>R | No | Ensembl | |
rs200833305 | 478 | E>Q | No |
1000Genomes gnomAD |
|
rs1951193049 | 479 | H>D | No | Ensembl | |
rs1490151855 | 479 | H>R | No | gnomAD | |
rs1483497360 | 480 | D>G | No |
TOPMed gnomAD |
|
COSM6067023 | 480 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1483497360 | 480 | D>V | No |
TOPMed gnomAD |
|
rs1951193126 | 480 | D>Y | No | Ensembl | |
rs202087665 | 481 | V>F | No |
TOPMed gnomAD |
|
COSM3985860 | 481 | V>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs202087665 | 481 | V>I | No |
TOPMed gnomAD |
|
rs1951193327 | 482 | I>T | No | Ensembl | |
rs1197249795 | 483 | K>E | No | gnomAD | |
rs1265911746 | 483 | K>R | No |
TOPMed gnomAD |
|
rs1301041094 | 484 | Q>R | No |
TOPMed gnomAD |
|
rs1329812731 | 486 | T>A | No |
TOPMed gnomAD |
|
rs1951193621 | 487 | Q>E | No | gnomAD | |
rs762144986 | 487 | Q>P | No |
ExAC gnomAD |
|
rs200008391 | 488 | T>K | No |
TOPMed gnomAD |
|
COSM168408 rs200008391 |
488 | T>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA TOPMed gnomAD |
rs1591525882 | 491 | Q>P | No | TOPMed | |
rs1591525882 | 491 | Q>R | No | TOPMed | |
rs763551333 | 492 | A>V | No |
ExAC gnomAD |
|
rs1159354646 | 493 | R>G | No | gnomAD | |
rs199509362 | 494 | E>K | No |
1000Genomes ExAC gnomAD |
|
rs1410111207 | 495 | L>Q | No | TOPMed | |
rs752241001 | 496 | I>M | No |
ExAC TOPMed gnomAD |
|
rs1480768971 | 496 | I>T | No | gnomAD | |
rs373311655 | 497 | D>G | No |
ESP ExAC TOPMed gnomAD |
|
rs1951194042 | 497 | D>Y | No | Ensembl | |
rs138752976 | 498 | T>M | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 498 | T>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1951194102 | 498 | T>P | No | TOPMed | |
rs1951194203 | 500 | L>F | No | TOPMed | |
rs753540410 | 501 | V>E | No |
ExAC gnomAD |
|
rs756933731 | 503 | G>E | No |
ExAC gnomAD |
|
rs778798841 | 505 | I>F | No |
ExAC gnomAD |
|
rs77165340 | 506 | A>P | No |
ExAC gnomAD |
|
rs1164390031 | 506 | A>V | No | TOPMed | |
rs1951194437 | 507 | A>V | No | Ensembl | |
rs1350859397 | 508 | T>I | No | gnomAD | |
rs747155453 | 508 | T>S | No |
ExAC gnomAD |
|
rs1407277844 | 509 | V>A | No | gnomAD | |
rs767629005 | 509 | V>L | No | Ensembl | |
rs1951194626 | 511 | R>I | No | Ensembl | |
rs370069893 | 512 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
rs370069893 | 512 | N>T | No |
ESP ExAC TOPMed gnomAD |
|
rs776938400 | 513 | S>C | No |
ExAC TOPMed gnomAD |
|
rs776938400 | 513 | S>F | No |
ExAC TOPMed gnomAD |
|
COSM1474943 | 514 | L>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1473044401 | 514 | L>R | No |
TOPMed gnomAD |
|
rs2135792641 | 518 | E>D | No | Ensembl | |
rs1216201125 | 518 | E>K | No |
TOPMed gnomAD |
|
rs1297142999 | 518 | E>V | No | gnomAD | |
rs1453451870 | 519 | A>P | No |
TOPMed gnomAD |
|
rs1453451870 | 519 | A>T | No |
TOPMed gnomAD |
|
rs773670994 | 522 | Y>H | No |
ExAC gnomAD |
|
rs1951195337 | 523 | E>D | No | TOPMed | |
rs763335184 | 523 | E>K | No |
ExAC gnomAD |
|
rs1223093283 TCGA novel |
524 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs998326954 | 528 | Q>R | No | Ensembl | |
TCGA novel | 529 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs749715948 | 530 | D>H | No |
ExAC TOPMed gnomAD |
|
rs749715948 | 530 | D>Y | No |
ExAC TOPMed gnomAD |
|
rs771295858 | 531 | I>V | No |
ExAC TOPMed gnomAD |
|
rs1380092376 | 533 | Y>C | No |
TOPMed gnomAD |
|
rs1483351317 | 535 | P>T | No | gnomAD | |
COSM69820 | 536 | T>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1161998779 | 537 | E>D | No | gnomAD | |
COSM3442664 | 537 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs760065153 | 538 | D>G | No |
ExAC gnomAD |
|
rs1300591134 | 539 | V>A | No |
TOPMed gnomAD |
|
rs1951201072 | 539 | V>I | No | TOPMed | |
rs1951202663 | 541 | D>V | No | TOPMed | |
rs1330336027 | 543 | P>A | No | gnomAD | |
rs1330336027 | 543 | P>S | No | gnomAD | |
rs1951202845 | 544 | V>A | No | TOPMed | |
rs1444050077 | 544 | V>M | No | gnomAD | |
rs1565325906 | 548 | L>V | No | gnomAD | |
COSM685795 rs373651361 |
549 | R>Q | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs145399165 | 549 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
rs1295346849 | 552 | Q>K | No |
TOPMed gnomAD |
|
rs1441559680 | 553 | E>D | No |
TOPMed gnomAD |
|
rs149475723 | 556 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
rs774719063 | 557 | C>* | No |
ExAC gnomAD |
|
rs1436314841 | 557 | C>Y | No | gnomAD | |
rs1233821588 | 558 | K>R | No | gnomAD | |
rs1951203458 | 559 | V>A | No | Ensembl | |
rs1477953478 | 561 | M>I | No |
TOPMed gnomAD |
|
rs1951203517 | 561 | M>T | No | TOPMed | |
rs1951203496 | 561 | M>V | No | gnomAD | |
TCGA novel rs1951203589 |
563 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
COSM1350362 | 564 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs746351416 | 565 | V>A | No |
ExAC gnomAD |
|
rs772607176 | 567 | I>T | No |
ExAC gnomAD |
|
rs1157973692 | 567 | I>V | No |
TOPMed gnomAD |
|
rs1480499410 | 568 | V>A | No | gnomAD | |
rs200093408 | 569 | F>L | No |
1000Genomes ExAC gnomAD |
|
rs1169373239 | 569 | F>L | No |
TOPMed gnomAD |
|
rs1411306598 | 571 | P>L | No |
TOPMed gnomAD |
|
rs1411306598 | 571 | P>R | No |
TOPMed gnomAD |
|
COSM3442665 | 571 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1349146692 | 573 | G>S | No |
TOPMed gnomAD |
|
TCGA novel | 574 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1193650949 | 577 | V>I | No |
TOPMed gnomAD |
|
rs1951204018 | 579 | K>Q | No | gnomAD | |
rs1304922616 | 580 | D>N | No | gnomAD | |
rs1304922616 | 580 | D>Y | No | gnomAD | |
rs761445277 | 581 | C>W | No |
ExAC gnomAD |
|
COSM1739751 rs1951204079 |
581 | C>Y | NS [Cosmic] | No |
cosmic curated Ensembl |
rs1224146569 | 585 | L>* | No | gnomAD | |
rs1951204167 | 586 | R>T | No | Ensembl | |
rs1277681875 | 589 | P>A | No | gnomAD | |
COSM3442666 | 592 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs202122377 | 594 | T>I | No |
1000Genomes gnomAD |
|
rs1951204333 | 595 | I>L | No | TOPMed | |
rs1951204333 | 595 | I>V | No | TOPMed | |
rs1951204407 | 597 | G>D | No | TOPMed | |
rs762729326 | 600 | R>H | No |
ExAC TOPMed gnomAD |
|
rs762729326 | 600 | R>P | No |
ExAC TOPMed gnomAD |
|
rs766231708 | 601 | T>A | No |
ExAC gnomAD |
|
rs761837224 | 605 | S>= | No |
ESP ExAC TOPMed gnomAD |
No associated diseases with Q13489
Functions
Description | ||
---|---|---|
EC Number | 2.3.2.27 | Aminoacyltransferases |
Subcellular Localization |
|
|
PANTHER Family | ||
PANTHER Subfamily | ||
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
5 GO annotations of cellular component
Name | Definition |
---|---|
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
6 GO annotations of molecular function
Name | Definition |
---|---|
cysteine-type endopeptidase inhibitor activity involved in apoptotic process | Binds to and stops, prevents or reduces the activity of a cysteine-type endopeptidase involved in the apoptotic process. |
metal ion binding | Binding to a metal ion. |
protein-containing complex binding | Binding to a macromolecular complex. |
transferase activity | Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. |
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 |
ubiquitin-protein transferase activity | Catalysis of the transfer of ubiquitin from one protein to another via the reaction X-Ub + Y --> Y-Ub + X, where both X-Ub and Y-Ub are covalent linkages. |
19 GO annotations of biological process
Name | Definition |
---|---|
apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
canonical NF-kappaB signal transduction | The process in which a signal is passed on to downstream components within the cell through the I-kappaB-kinase (IKK)-dependent activation of NF-kappaB. The cascade begins with activation of a trimeric IKK complex (consisting of catalytic kinase subunits IKKalpha and/or IKKbeta, and the regulatory scaffold protein NEMO) and ends with the regulation of transcription of target genes by NF-kappaB. In a resting state, NF-kappaB dimers are bound to I-kappaB proteins, sequestering NF-kappaB in the cytoplasm. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing the NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription. |
cell surface receptor signaling pathway | The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. |
negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
negative regulation of necroptotic process | Any process that decreases the rate, frequency or extent of a necroptotic process, a necrotic cell death process that results from the activation of endogenous cellular processes, such as signaling involving death domain receptors or Toll-like receptors. |
non-canonical NF-kappaB signal transduction | The process in which a signal is passed on to downstream components within the cell through the NIK-dependent processing and activation of NF-KappaB. Begins with activation of the NF-KappaB-inducing kinase (NIK), which in turn phosphorylates and activates IkappaB kinase alpha (IKKalpha). IKKalpha phosphorylates the NF-Kappa B2 protein (p100) leading to p100 processing and release of an active NF-KappaB (p52). |
positive regulation of canonical NF-kappaB signal transduction | Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling. |
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. |
regulation of apoptotic process | Any process that modulates the occurrence or rate of cell death by apoptotic process. |
regulation of cell cycle | Any process that modulates the rate or extent of progression through the cell cycle. |
regulation of cysteine-type endopeptidase activity | Any process that modulates the frequency, rate or extent of cysteine-type endopeptidase activity. |
regulation of inflammatory response | Any process that modulates the frequency, rate or extent of the inflammatory response, the immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. |
regulation of innate immune response | Any process that modulates the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection. |
regulation of necroptotic process | Any process that modulates the rate, frequency or extent of a necroptotic process, a necrotic cell death process that results from the activation of endogenous cellular processes, such as signaling involving death domain receptors or Toll-like receptors. |
regulation of nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway | Any process that modulates the frequency, rate, or extent of a nucleotide-binding oligomerization domain containing (NOD) pathway. |
regulation of RIG-I signaling pathway | Any process that modulates the frequency, rate or extent of the RIG-I signaling pathway. |
regulation of toll-like receptor signaling pathway | Any process that modulates the frequency, rate, or extent of toll-like receptor signaling pathway. |
spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
tumor necrosis factor-mediated signaling pathway | The series of molecular signals initiated by tumor necrosis factor binding to its receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
7 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q90660 | ITA | Inhibitor of apoptosis protein | Gallus gallus (Chicken) | SS |
A1E2V0 | BIRC3 | Baculoviral IAP repeat-containing protein 3 | Canis lupus familiaris (Dog) (Canis familiaris) | SS |
Q13490 | BIRC2 | Baculoviral IAP repeat-containing protein 2 | Homo sapiens (Human) | EV |
Q96P09 | BIRC8 | Baculoviral IAP repeat-containing protein 8 | Homo sapiens (Human) | PR |
Q62210 | Birc2 | Baculoviral IAP repeat-containing protein 2 | Mus musculus (Mouse) | SS |
O08863 | Birc3 | Baculoviral IAP repeat-containing protein 3 | Mus musculus (Mouse) | SS |
O62640 | PIAP | Putative inhibitor of apoptosis | Sus scrofa (Pig) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MNIVENSIFL | SNLMKSANTF | ELKYDLSCEL | YRMSTYSTFP | AGVPVSERSL | ARAGFYYTGV |
70 | 80 | 90 | 100 | 110 | 120 |
NDKVKCFCCG | LMLDNWKRGD | SPTEKHKKLY | PSCRFVQSLN | SVNNLEATSQ | PTFPSSVTNS |
130 | 140 | 150 | 160 | 170 | 180 |
THSLLPGTEN | SGYFRGSYSN | SPSNPVNSRA | NQDFSALMRS | SYHCAMNNEN | ARLLTFQTWP |
190 | 200 | 210 | 220 | 230 | 240 |
LTFLSPTDLA | KAGFYYIGPG | DRVACFACGG | KLSNWEPKDN | AMSEHLRHFP | KCPFIENQLQ |
250 | 260 | 270 | 280 | 290 | 300 |
DTSRYTVSNL | SMQTHAARFK | TFFNWPSSVL | VNPEQLASAG | FYYVGNSDDV | KCFCCDGGLR |
310 | 320 | 330 | 340 | 350 | 360 |
CWESGDDPWV | QHAKWFPRCE | YLIRIKGQEF | IRQVQASYPH | LLEQLLSTSD | SPGDENAESS |
370 | 380 | 390 | 400 | 410 | 420 |
IIHFEPGEDH | SEDAIMMNTP | VINAAVEMGF | SRSLVKQTVQ | RKILATGENY | RLVNDLVLDL |
430 | 440 | 450 | 460 | 470 | 480 |
LNAEDEIREE | ERERATEEKE | SNDLLLIRKN | RMALFQHLTC | VIPILDSLLT | AGIINEQEHD |
490 | 500 | 510 | 520 | 530 | 540 |
VIKQKTQTSL | QARELIDTIL | VKGNIAATVF | RNSLQEAEAV | LYEHLFVQQD | IKYIPTEDVS |
550 | 560 | 570 | 580 | 590 | 600 |
DLPVEEQLRR | LQEERTCKVC | MDKEVSIVFI | PCGHLVVCKD | CAPSLRKCPI | CRSTIKGTVR |
TFLS |