P42338
PR
Gene name |
PIK3CB (PIK3C1) |
Protein name |
Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform |
Names |
PI3-kinase subunit beta, PI3K-beta, PI3Kbeta, PtdIns-3-kinase subunit beta, Phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit beta, PtdIns-3-kinase subunit p110-beta, p110beta, Serine/threonine protein kinase PIK3CB |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5291 |
EC number |
2.7.1.153: Phosphotransferases with an alcohol group as acceptor |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
937-961 (Activation loop from InterPro)
Target domain |
706-1067 (Catalytic domain of Class IA Phosphoinositide 3-kinase beta) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
1 structures for P42338
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P42338-F1 | Predicted | AlphaFoldDB |
612 variants for P42338
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000791315 rs1577033077 CA354687755 |
987 | E>D | NK-cell enteropathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| TCGA novel | 3 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1163476279 CA354705783 |
5 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs781669505 CA2639658 |
6 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2639656 rs752021744 |
13 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 13 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2639655 rs766489153 |
16 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763276798 CA2639654 |
17 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA354705466 rs1172688851 |
17 | I>V | No |
ClinGen TOPMed |
|
|
CA2639653 COSM205016 rs148660928 |
19 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA83964506 rs576986268 |
21 | D>Y | No |
ClinGen Ensembl |
|
|
rs1195526427 CA354705321 |
22 | S>L | No |
ClinGen gnomAD |
|
|
CA354705281 rs1443328803 |
23 | Q>H | No |
ClinGen gnomAD |
|
|
rs1304985158 CA354705259 |
24 | I>M | No |
ClinGen TOPMed |
|
|
CA354705245 rs374448453 |
25 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374448453 CA2639650 |
25 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760521881 CA2639648 |
26 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760521881 CA2639649 |
26 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354705174 rs1347448883 COSM205015 |
28 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1328338753 CA354705134 |
29 | S>C | No |
ClinGen TOPMed |
|
|
CA354705151 rs1293454308 |
29 | S>P | No |
ClinGen TOPMed |
|
|
CA354705117 rs1298339692 |
31 | P>S | No |
ClinGen gnomAD |
|
|
CA354705100 rs775392228 |
32 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs775392228 CA2639647 |
32 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1295285143 CA354705012 |
36 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2639645 rs370148572 |
39 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778448578 CA2639644 |
44 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs770363808 CA2639643 |
47 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354704760 rs1374478281 |
48 | R>Q | No |
ClinGen gnomAD |
|
|
rs545189148 CA2639642 |
48 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA354704709 rs1168911534 |
50 | A>G | No |
ClinGen gnomAD |
|
|
rs375632149 CA83964482 |
50 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
TCGA novel CA354704646 rs1184724506 |
53 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA354704652 rs1184724506 |
53 | S>Y | No |
ClinGen TOPMed |
|
|
CA354704598 rs1387834373 |
55 | I>S | No |
ClinGen gnomAD |
|
|
rs764363710 CA2639640 |
57 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA2639639 rs751840740 |
57 | Q>R | No |
ClinGen ExAC TOPMed |
|
|
rs1250772038 CA354703528 |
58 | M>I | No |
ClinGen gnomAD |
|
|
rs748775308 CA354703541 |
58 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748775308 CA2639623 |
58 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA83962658 rs934538393 |
64 | H>Y | No |
ClinGen Ensembl |
|
|
CA2639620 rs747491179 |
65 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780428632 CA2639619 |
67 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs902540248 COSM1318717 CA83962639 |
68 | M>I | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1333841554 CA354703309 |
68 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA354703318 rs1333841554 |
68 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs758784705 CA2639618 |
69 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1030113277 CA83962637 |
70 | N>D | No |
ClinGen TOPMed |
|
|
rs370600009 CA83962636 |
70 | N>S | No |
ClinGen ESP TOPMed |
|
|
CA354703265 rs370600009 |
70 | N>T | No |
ClinGen ESP TOPMed |
|
|
CA2639617 rs746275978 |
71 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1370733608 CA354703238 |
71 | L>P | No |
ClinGen gnomAD |
|
|
CA2639616 rs779251088 |
73 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA2639615 rs757588885 |
74 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA354703108 rs1187901141 |
75 | I>T | No |
ClinGen Ensembl |
|
|
CA354703054 rs1576392688 |
77 | S>F | No |
ClinGen Ensembl |
|
|
rs1351165932 CA354703029 |
78 | Y>C | No |
ClinGen gnomAD |
|
|
CA83962612 rs772351098 |
81 | A>S | No |
ClinGen Ensembl |
|
|
CA354702795 rs1461410687 |
86 | T>N | No |
ClinGen gnomAD |
|
|
rs1576392661 CA354702736 |
88 | V>L | No |
ClinGen Ensembl |
|
|
rs764217455 CA2639613 |
89 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1161845385 CA354702722 |
89 | Y>H | No |
ClinGen gnomAD |
|
|
rs1192049247 CA354702610 |
92 | L>F | No |
ClinGen gnomAD |
|
|
rs1489490754 CA354702604 |
92 | L>P | No |
ClinGen gnomAD |
|
|
rs3729696 CA83962607 |
94 | D>A | No |
ClinGen Ensembl |
|
|
rs752616498 CA2639611 COSM479495 |
96 | T>A | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1467994756 CA354702491 |
97 | R>Q | No |
ClinGen gnomAD |
|
|
rs767424578 CA2639610 |
100 | C>Y | No |
ClinGen ExAC |
|
|
rs774181749 COSM445683 CA2639608 |
103 | R>K | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1219491121 CA354702177 |
107 | P>R | No |
ClinGen gnomAD |
|
|
CA354701932 rs1323338734 |
116 | C>F | No |
ClinGen gnomAD |
|
|
CA2639605 rs201174029 |
118 | P>S | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 118 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354701872 rs1483689001 |
119 | G>A | No |
ClinGen Ensembl |
|
| TCGA novel | 119 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs900228786 CA83962540 |
124 | S>P | No |
ClinGen TOPMed |
|
|
rs1038798850 CA83962539 |
130 | I>M | No |
ClinGen TOPMed |
|
|
CA354701592 rs1406759016 |
130 | I>T | No |
ClinGen TOPMed |
|
|
rs1323215077 CA354701522 |
133 | G>S | No |
ClinGen gnomAD |
|
|
rs1450143044 CA354698552 |
134 | L>V | No |
ClinGen gnomAD |
|
|
CA2639582 rs373262346 |
138 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354698430 rs1260710467 |
141 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 141 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369650319 CA2639581 |
142 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768239977 CA2639580 |
146 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs760068308 CA2639579 |
146 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1276193691 CA354698320 |
148 | F>C | No |
ClinGen gnomAD |
|
| TCGA novel | 149 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354698307 rs1225812682 COSM1419454 |
149 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 150 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1343030132 CA354698270 |
152 | M>T | No |
ClinGen TOPMed |
|
|
rs202220571 CA2639577 |
153 | R>C | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA354698263 rs202220571 |
153 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs558261053 CA2639575 |
153 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs558261053 CA2639576 |
153 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs930943712 CA83955070 |
154 | K>R | No |
ClinGen gnomAD |
|
|
CA354698231 rs1220873935 |
155 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs919687592 CA83955062 |
156 | S>G | No |
ClinGen TOPMed |
|
|
CA354698211 rs1166248530 |
157 | E>A | No |
ClinGen gnomAD |
|
|
CA354698208 rs1460344860 |
157 | E>D | No |
ClinGen gnomAD |
|
|
rs530305907 CA2639573 |
157 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1283704394 CA354698197 |
158 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 160 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781093438 CA2639572 |
163 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755108895 CA2639571 |
164 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1210887088 CA354698122 |
164 | V>L | No |
ClinGen TOPMed |
|
|
CA354698107 rs1248409072 |
165 | G>E | No |
ClinGen TOPMed |
|
|
rs1012343760 CA83955045 |
166 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA2639570 rs751430590 |
168 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA2639569 rs569266309 |
169 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1483191164 CA354698055 |
169 | M>K | No |
ClinGen gnomAD |
|
| TCGA novel | 174 | Q>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354697992 rs1196494197 |
176 | Y>H | No |
ClinGen TOPMed |
|
|
CA2639567 rs750266271 |
177 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs758175087 CA2639568 |
177 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1248334251 CA354697980 |
178 | P>A | No |
ClinGen TOPMed |
|
|
CA354697963 rs1333098030 |
180 | H>R | No |
ClinGen gnomAD |
|
|
CA354697965 rs1247678992 |
180 | H>Y | No |
ClinGen gnomAD |
|
|
CA354697949 rs1293087086 |
182 | P>S | No |
ClinGen gnomAD |
|
|
rs939876473 CA83955033 |
184 | I>F | No |
ClinGen Ensembl |
|
|
CA2639565 rs761327361 |
185 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs753548626 CA2639564 |
186 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA83955024 rs1054453569 |
187 | N>K | No |
ClinGen TOPMed |
|
|
rs181737040 CA2639563 |
187 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354697903 rs1559855538 |
189 | E>V | No |
ClinGen Ensembl |
|
|
rs760268621 CA2639562 |
190 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA83955008 rs912381132 |
192 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1559855524 CA354697853 |
196 | K>N | No |
ClinGen Ensembl |
|
|
CA2639561 rs774996509 |
197 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2639559 rs139214510 |
199 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1179285053 CA354697779 |
207 | Q>R | No |
ClinGen gnomAD |
|
|
CA354697757 rs3729699 CA2639544 |
208 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2639542 rs763514461 |
209 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2639541 rs773791563 |
211 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs773791563 CA354697742 |
211 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs371428527 CA83951834 |
213 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2639539 rs762303308 |
214 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA83951828 rs1027645660 |
214 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1027645660 CA354697721 |
214 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs776702180 CA2639538 |
216 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs768914244 CA2639537 |
217 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2639536 rs374366468 |
218 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2639535 rs775504365 |
219 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778911189 CA2639532 |
221 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2639531 rs757001098 |
221 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA2639533 rs778911189 |
221 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749167878 CA2639530 |
223 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399693411 CA354697654 |
224 | N>K | No |
ClinGen gnomAD |
|
|
CA354697653 rs1211215558 |
225 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1402470993 CA354697621 |
229 | Q>R | No |
ClinGen gnomAD |
|
|
rs777549389 CA2639529 |
231 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2639528 rs768935937 |
231 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs777549389 CA354697609 |
231 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA83951761 rs767088133 |
232 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752429585 CA2639527 |
232 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754551112 CA2639525 |
233 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs750830394 CA2639524 |
234 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1443420581 CA354697585 |
235 | H>R | No |
ClinGen gnomAD |
|
|
CA354697587 rs1192925569 |
235 | H>Y | No |
ClinGen gnomAD |
|
|
CA2639522 rs144658394 |
238 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2639521 rs559334923 |
239 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 240 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354697538 rs1275472520 |
242 | S>G | No |
ClinGen gnomAD |
|
|
CA2639520 rs764472641 |
242 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs775698765 CA2639518 |
244 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA354697517 rs1452619662 |
245 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA2639517 rs772070342 |
246 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1340898304 CA354697495 |
248 | L>S | No |
ClinGen gnomAD |
|
|
rs1397927706 CA354697483 |
250 | V>I | No |
ClinGen TOPMed |
|
|
CA2639515 rs774144681 |
252 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA354697464 rs1168687622 |
253 | R>G | No |
ClinGen gnomAD |
|
|
CA2639514 rs770953357 |
253 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1417984373 CA354697458 |
254 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 255 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354697436 rs1299073552 |
257 | V>I | No |
ClinGen TOPMed |
|
|
CA2639512 rs777675918 |
261 | H>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 264 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771483187 CA83949827 |
268 | Y>H | No |
ClinGen Ensembl |
|
|
rs1278459239 CA354697331 |
270 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
COSM1039063 rs148366420 CA2639488 |
270 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA83949818 rs964732148 |
271 | N>S | No |
ClinGen TOPMed |
|
|
rs998430210 CA83949815 |
274 | M>K | No |
ClinGen Ensembl |
|
|
CA354697295 rs1272988890 |
275 | N>S | No |
ClinGen TOPMed |
|
|
CA2639487 rs368178860 |
276 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA83949774 rs759655139 |
280 | H>R | No |
ClinGen Ensembl |
|
|
CA2639484 rs757855105 |
282 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA2639485 rs779567310 |
282 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs754273613 CA2639483 |
283 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs375486136 CA83949760 |
284 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
rs778315526 CA2639482 |
285 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2639481 rs756454370 |
288 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2639480 rs753111851 |
289 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1382110566 CA354697207 |
289 | I>V | No |
ClinGen gnomAD |
|
|
CA2639479 rs767606437 |
292 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs952031163 CA83949721 |
293 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1455686723 CA354697178 |
293 | Y>N | No |
ClinGen gnomAD |
|
| TCGA novel | 297 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354697147 rs1189784417 |
297 | M>L | No |
ClinGen TOPMed |
|
|
CA2639478 rs759767297 |
298 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA2639477 rs751757004 |
301 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354697111 rs1314769656 |
302 | A>P | No |
ClinGen gnomAD |
|
|
CA83949716 rs942332577 |
303 | A>T | No |
ClinGen gnomAD |
|
|
rs1461713437 CA354697085 |
306 | R>* | No |
ClinGen TOPMed |
|
|
CA2639476 COSM3124087 rs372119491 |
306 | R>Q | large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA83949707 rs140707154 |
309 | S>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2639475 rs762947978 |
310 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773279562 CA2639474 |
310 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA354697056 rs1430112003 |
311 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 314 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1291010707 CA354697007 |
318 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1039061 rs1451809865 CA354696990 |
321 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA354696985 rs1174559734 |
322 | I>F | No |
ClinGen gnomAD |
|
|
rs1426488974 CA354696951 |
325 | H>R | No |
ClinGen gnomAD |
|
|
CA2639451 rs775191739 |
327 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354696908 rs1486458334 |
331 | N>D | No |
ClinGen gnomAD |
|
|
CA2639450 rs771668476 |
331 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1175276267 CA354696901 |
332 | P>A | No |
ClinGen TOPMed |
|
|
CA354696897 rs1240185281 |
332 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2639446 rs770453818 |
333 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2639447 rs377621585 |
333 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377621585 CA2639448 |
333 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354696874 rs1307238434 |
336 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
rs748601581 CA2639445 |
336 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA354696865 rs1294314259 |
337 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA83948844 rs61755417 |
338 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs61755417 CA2639444 |
338 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2639443 rs755366497 |
339 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1254386471 CA354696847 |
341 | N>H | No |
ClinGen Ensembl |
|
|
CA354696816 rs1398782510 |
345 | T>A | No |
ClinGen gnomAD |
|
|
CA2639441 rs780302760 |
345 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs868369524 CA83948812 |
346 | E>G | No |
ClinGen Ensembl |
|
|
CA354696812 rs1225867542 |
346 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 348 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148106956 CA2639440 |
349 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2639439 rs555479451 |
350 | K>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354696739 rs1216143406 |
354 | R>S | No |
ClinGen gnomAD |
|
|
rs1467388468 CA354696735 |
355 | A>S | No |
ClinGen gnomAD |
|
|
CA2639415 rs777732888 |
355 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354696725 rs1205885222 |
357 | L>V | No |
ClinGen gnomAD |
|
|
rs1203519873 CA354696716 |
358 | F>S | No |
ClinGen TOPMed |
|
|
CA354696702 rs1353120083 |
360 | G>C | No |
ClinGen gnomAD |
|
|
CA2639412 rs767242982 |
363 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354696682 rs1371874547 |
363 | L>P | No |
ClinGen gnomAD |
|
|
CA354696652 rs1304024153 |
368 | I>V | No |
ClinGen gnomAD |
|
|
rs751212156 CA2639410 |
369 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751212156 CA354696641 |
369 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759331142 COSM1039060 CA2639411 |
369 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs759331142 CA354696645 |
369 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2639408 rs762505566 |
372 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA354696612 rs1351648066 |
374 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 377 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755608585 CA2639407 |
380 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216567138 CA354696502 |
389 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1418528949 CA354696493 |
390 | N>S | No |
ClinGen gnomAD |
|
|
CA83937805 rs576559456 |
391 | I>V | No |
ClinGen 1000Genomes |
|
|
CA2639406 rs769366263 |
394 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA354696443 rs1490231759 |
397 | M>R | No |
ClinGen TOPMed |
|
|
CA2639404 rs776141499 |
397 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA354696434 rs1219115228 |
398 | A>V | No |
ClinGen TOPMed |
|
|
CA354696430 rs1194347036 |
399 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1194347036 COSM1161444 CA354696431 |
399 | R>Q | Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA354696399 rs1259883252 |
404 | V>I | No |
ClinGen gnomAD |
|
|
CA354696335 rs1348630621 |
413 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2639402 rs746292811 |
413 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176603011 CA354696316 |
415 | K>N | No |
ClinGen TOPMed |
|
|
CA2639400 rs771317579 |
416 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA2639399 rs749557447 |
417 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143122477 COSM419799 CA2639398 |
417 | T>M | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA354696296 rs1559835831 |
419 | T>A | No |
ClinGen Ensembl |
|
|
rs752510116 CA2639396 |
419 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs752510116 CA354696294 |
419 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1007545037 CA83937776 |
420 | I>V | No |
ClinGen Ensembl |
|
|
CA354696287 rs1375464104 |
421 | N>H | No |
ClinGen gnomAD |
|
| TCGA novel | 421 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1174984399 CA354696274 |
422 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA354696255 rs1352031336 |
425 | Y>C | No |
ClinGen TOPMed |
|
|
rs184069629 CA83937769 |
428 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754758712 CA2639394 |
428 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs958541551 CA83937766 |
429 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA354696229 rs1476574480 |
429 | R>M | No |
ClinGen gnomAD |
|
|
CA354696198 rs149400258 |
434 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149400258 CA2639392 |
434 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760074020 CA2639367 |
438 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA83936661 rs973976406 |
439 | A>E | No |
ClinGen TOPMed |
|
|
CA2639365 rs766587288 |
443 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA354696123 rs766587288 |
443 | T>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 444 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1417519641 CA354696120 |
444 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 446 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 447 | D>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1411715699 CA354696096 |
447 | D>Y | No |
ClinGen TOPMed |
|
|
rs748198894 CA2639361 |
449 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA354696067 rs1162993313 |
451 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 454 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1468716826 CA354696026 |
457 | I>V | No |
ClinGen gnomAD |
|
|
rs1236259525 CA354696018 |
458 | I>L | No |
ClinGen gnomAD |
|
|
CA354695999 rs1338981110 |
460 | H>Q | No |
ClinGen Ensembl |
|
|
CA354695980 rs1314430695 |
463 | S>P | No |
ClinGen TOPMed |
|
|
CA354695959 rs1468722344 |
466 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 468 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354695921 COSM1039059 rs1217537873 |
470 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA2639344 rs187448387 |
472 | M>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761976401 CA2639343 |
473 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223044866 CA354695881 |
475 | P>S | No |
ClinGen TOPMed |
|
|
CA354695876 rs1350673002 |
476 | M>V | No |
ClinGen gnomAD |
|
|
rs1283599234 CA354695861 |
478 | T>A | No |
ClinGen TOPMed |
|
|
rs3729778 CA83963676 |
479 | V>G | No |
ClinGen Ensembl |
|
|
rs1014164283 CA83963712 |
479 | V>I | No |
ClinGen TOPMed |
|
|
COSM3783664 CA354695820 rs1324578567 |
484 | Y>C | Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA354695823 rs1398413201 |
484 | Y>H | No |
ClinGen gnomAD |
|
|
CA354695793 rs1449320641 |
488 | A>P | No |
ClinGen TOPMed |
|
| TCGA novel | 488 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1200580172 CA354695787 |
489 | T>A | No |
ClinGen TOPMed |
|
|
rs1359919593 CA354695777 |
490 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2639337 rs745822811 |
492 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2639336 rs778719229 |
493 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 494 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354695715 rs1559830315 |
499 | K>R | No |
ClinGen Ensembl |
|
|
rs1379286326 CA354695693 |
502 | P>S | No |
ClinGen gnomAD |
|
|
CA2639331 rs752304116 |
509 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs755672708 CA2639332 |
509 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs780398302 CA2639330 |
510 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA354695634 rs1159719868 |
510 | K>N | No |
ClinGen TOPMed |
|
|
rs997446291 CA83961755 |
511 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1338716528 CA354695614 |
512 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2639314 rs769614863 |
514 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2639313 rs747790462 |
515 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA83961717 rs767553407 |
516 | A>S | No |
ClinGen Ensembl |
|
|
CA83961726 rs767553407 |
516 | A>T | No |
ClinGen Ensembl |
|
|
rs1406072356 CA354695581 |
517 | E>K | No |
ClinGen TOPMed |
|
|
CA2639312 rs780707259 |
518 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA354695560 rs1333337067 |
520 | S>N | No |
ClinGen gnomAD |
|
|
rs754462951 CA2639311 |
521 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA83961680 rs902854177 |
521 | S>N | No |
ClinGen gnomAD |
|
|
rs370267447 CA2639310 |
523 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354695518 rs1159709362 |
526 | V>L | No |
ClinGen TOPMed |
|
|
rs1194965901 CA354695487 |
529 | R>* | No |
ClinGen gnomAD |
|
|
rs776210981 CA2639295 |
529 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA354695480 rs1336336136 |
530 | G>V | No |
ClinGen TOPMed |
|
|
rs1201442452 CA354695429 |
534 | F>S | No |
ClinGen gnomAD |
|
|
CA2639294 rs768197095 |
535 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2639292 rs779358333 |
540 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2639291 rs567504237 |
541 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2639290 rs749817338 |
542 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1304149814 CA354695274 |
545 | D>E | No |
ClinGen gnomAD |
|
|
CA354695289 rs1233960622 |
545 | D>N | No |
ClinGen gnomAD |
|
|
CA354695262 rs1559823743 |
546 | P>L | No |
ClinGen Ensembl |
|
|
CA354695258 rs1342269400 |
547 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 553 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1559823705 CA354695085 |
558 | I>T | No |
ClinGen Ensembl |
|
|
rs938566357 CA83957890 |
558 | I>V | No |
ClinGen TOPMed |
|
|
rs867609969 CA83957859 COSM1039055 |
562 | R>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs912490737 CA83957853 COSM1670596 |
562 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1361821401 CA354695005 |
564 | D>Y | No |
ClinGen gnomAD |
|
|
CA2639285 rs755063898 |
566 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs547624936 CA2639284 |
566 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2639283 rs547624936 |
566 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1220612725 CA354694966 |
567 | E>G | No |
ClinGen TOPMed |
|
|
rs372560682 CA83957827 |
571 | Q>H | No |
ClinGen ESP TOPMed |
|
|
CA2639281 rs773297988 |
571 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477220420 CA354694929 |
572 | S>L | No |
ClinGen gnomAD |
|
|
CA354694916 rs1377442424 |
575 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs953880977 CA83957811 |
579 | S>L | No |
ClinGen Ensembl |
|
|
CA354694886 rs1215972519 |
580 | I>V | No |
ClinGen gnomAD |
|
|
CA2639277 rs768028614 |
581 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2639275 rs774931559 |
587 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 590 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354694814 rs1342552760 |
590 | Q>K | No |
ClinGen gnomAD |
|
|
CA2639274 rs749726636 |
590 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs749726636 CA2639273 |
590 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs748721844 CA2639253 |
592 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs781366137 CA2639252 |
593 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs769082299 CA2639251 |
593 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1035838844 CA83955147 |
598 | W>C | No |
ClinGen gnomAD |
|
|
rs1003057226 CA83955134 |
599 | P>H | No |
ClinGen gnomAD |
|
|
CA2639250 rs747163966 |
599 | P>S | No |
ClinGen ExAC |
|
|
CA354694341 rs1191168084 |
601 | L>P | No |
ClinGen TOPMed |
|
|
CA354694338 rs536248537 |
602 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs758527377 CA354694337 |
602 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758527377 CA2639248 |
602 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758527377 CA354694336 |
602 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs536248537 CA2639249 |
602 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1024020055 CA83955082 |
603 | P>A | No |
ClinGen Ensembl |
|
|
rs375961764 CA2639246 |
603 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199713806 CA83955064 |
604 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199713806 CA2639243 |
604 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753827615 CA2639245 |
604 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs760529264 CA2639241 |
605 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 605 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458884052 CA354694316 |
607 | L>I | No |
ClinGen gnomAD |
|
|
rs1321947952 CA354694281 |
612 | F>S | No |
ClinGen gnomAD |
|
|
rs1389187556 CA354694272 |
613 | N>S | No |
ClinGen TOPMed |
|
|
rs993589147 CA83955052 |
614 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA354694259 rs1226099075 |
615 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs759018361 CA2639238 |
616 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA2639235 rs762171492 |
619 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1331108652 CA354694226 |
620 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA354694224 rs1287178982 |
620 | R>Q | No |
ClinGen TOPMed |
|
|
rs144577790 CA2639233 |
621 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA83955040 rs1024272022 |
621 | E>Q | No |
ClinGen TOPMed |
|
|
CA83955010 rs78077615 |
624 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA83955006 rs78077615 |
624 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2639232 rs747423497 |
626 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA83955000 rs375492591 |
628 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
CA2639231 rs780387670 |
628 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159113643 CA354694173 |
629 | Q>R | No |
ClinGen gnomAD |
|
|
rs3729781 CA83954997 |
631 | S>N | No |
ClinGen Ensembl |
|
|
CA354694137 rs1218135356 |
632 | D>V | No |
ClinGen gnomAD |
|
|
rs369856399 COSM94988 CA2639213 |
633 | E>K | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC |
| TCGA novel | 637 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354694092 rs1475321066 COSM25364 |
638 | Y>* | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs770901856 CA2639208 |
643 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA83952503 rs375073800 |
645 | V>A | No |
ClinGen ESP |
|
|
CA2639204 rs372389399 |
648 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs894906262 CA83952486 |
650 | P>A | No |
ClinGen Ensembl |
|
|
rs1195436796 CA354693964 |
658 | R>G | No |
ClinGen gnomAD |
|
|
CA354693962 rs1404694661 |
658 | R>K | No |
ClinGen TOPMed |
|
|
rs766117304 CA2639200 |
659 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs368219036 CA83952460 |
662 | E>V | No |
ClinGen ESP TOPMed |
|
|
CA2639197 rs764859369 |
664 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2639194 rs142634183 |
665 | L>V | No |
ClinGen ESP ExAC |
|
|
rs1319089813 CA354693897 |
668 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs760002387 COSM1039054 CA2639193 |
668 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1260197332 CA354693890 |
669 | R>K | No |
ClinGen gnomAD |
|
|
rs2230462 CA2639191 VAR_050530 |
672 | Q>H | No |
ClinGen UniProt ExAC TOPMed dbSNP |
|
|
rs773229442 CA2639189 |
678 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1247059254 CA354693015 |
680 | S>* | No |
ClinGen gnomAD |
|
|
rs998766214 CA83951258 |
682 | V>G | No |
ClinGen Ensembl |
|
|
CA2639175 rs768188142 |
686 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1479483518 CA354692897 |
687 | V>A | No |
ClinGen TOPMed |
|
|
rs148873702 CA83951251 |
687 | V>I | No |
ClinGen ESP gnomAD |
|
|
rs1377278078 CA354692875 |
689 | V>I | No |
ClinGen gnomAD |
|
|
CA2639174 rs759788024 |
690 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 690 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2639173 rs374638319 |
692 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1458960849 CA354692753 |
698 | Y>C | No |
ClinGen gnomAD |
|
|
CA2639170 rs376905725 |
700 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2639171 rs371601853 |
700 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2639169 rs374518940 |
706 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354692562 rs1256099029 |
708 | V>G | No |
ClinGen TOPMed |
|
|
rs1476453050 CA354692551 |
709 | L>P | No |
ClinGen TOPMed |
|
|
rs74701669 RCV000890402 CA2639151 |
717 | N>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs765496102 CA2639150 |
718 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1032389846 CA83948343 |
718 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 718 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 720 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2639148 rs776640223 |
725 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354692054 rs1266528244 |
725 | L>S | No |
ClinGen TOPMed |
|
|
CA354692019 rs1194143200 |
728 | L>M | No |
ClinGen TOPMed |
|
|
COSM3846361 rs768628634 CA2639147 |
730 | A>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2639145 rs775354147 |
731 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354691950 rs1214393309 |
734 | N>H | No |
ClinGen gnomAD |
|
|
CA354691928 rs1349615463 |
737 | K>E | No |
ClinGen gnomAD |
|
|
CA354691886 rs1235228469 |
742 | M>I | No |
ClinGen gnomAD |
|
|
CA2639144 rs771885408 |
742 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1328986368 CA354691883 |
743 | H>Y | No |
ClinGen gnomAD |
|
|
rs902215836 CA83948281 |
744 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA354691875 rs1400050028 |
744 | T>I | No |
ClinGen gnomAD |
|
|
rs745705347 CA2639143 |
745 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354691845 rs1400641892 |
748 | Q>L | No |
ClinGen gnomAD |
|
|
rs774114972 CA2639142 |
749 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA83948264 rs144517265 |
750 | A>T | No |
ClinGen ESP |
|
|
rs1174658857 CA354691831 |
750 | A>V | No |
ClinGen gnomAD |
|
|
CA354691820 rs140578043 |
752 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140578043 CA2639140 |
752 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2639141 rs749977364 |
752 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1169158759 CA354691803 |
755 | L>F | No |
ClinGen TOPMed |
|
|
CA2639136 rs780487919 |
760 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2639135 rs767134885 |
767 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767134885 CA354691727 |
767 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316933213 COSM445680 CA354691722 |
768 | L>F | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs3729782 CA83948212 |
770 | E>K | No |
ClinGen Ensembl |
|
|
CA2639133 rs765604261 |
772 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 780 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1213379067 CA354691565 |
787 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2639108 rs77952061 |
789 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs180892617 CA2639109 |
789 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2639104 rs769375151 |
790 | Y>* | No |
ClinGen ExAC |
|
|
rs772902140 CA2639105 |
790 | Y>N | No |
ClinGen ExAC |
|
|
CA354691542 rs1577068839 |
791 | N>K | No |
ClinGen Ensembl |
|
|
rs761561891 CA2639103 |
792 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1164856308 CA354691535 |
792 | N>S | No |
ClinGen gnomAD |
|
|
rs775942594 CA2639102 |
794 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA354691523 rs1178994056 |
794 | V>L | No |
ClinGen gnomAD |
|
|
rs1015550634 CA83947523 |
798 | D>A | No |
ClinGen TOPMed |
|
|
rs371687428 CA2639101 |
799 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs771261109 CA2639098 |
800 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2639100 rs779451870 |
800 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2639099 rs779451870 |
800 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA354691410 rs1362363052 |
807 | G>C | No |
ClinGen TOPMed |
|
|
CA354691400 rs1243228183 |
808 | D>Y | No |
ClinGen gnomAD |
|
|
CA2639079 rs749823929 |
809 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA2639078 rs777941492 |
811 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs145339552 CA83946500 |
818 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354690440 rs1455285725 |
821 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs367937949 CA2639073 |
821 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2639074 rs367937949 |
821 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1158088001 CA354690417 |
823 | M>L | No |
ClinGen gnomAD |
|
|
rs750375278 CA354690300 |
830 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs750375278 CA2639070 |
830 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2639069 rs764933219 |
831 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 831 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761723023 COSM1559619 CA2639068 |
832 | L>W | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2639067 rs753463983 |
833 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs753463983 CA354690264 |
833 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA354690246 rs1485169490 |
835 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA354689672 rs1369083426 |
836 | M>I | No |
ClinGen gnomAD |
|
|
rs74577430 CA2639040 |
841 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs766923516 CA2639038 |
842 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2639039 rs752359770 |
842 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1400528837 CA354689575 |
844 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA354689567 rs1577045997 |
845 | G>E | No |
ClinGen Ensembl |
|
|
rs759151757 CA2639037 |
847 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM163487 rs759151757 CA354689543 |
847 | R>G | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2639036 rs139325460 |
847 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354689541 rs139325460 |
847 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150848927 CA2639034 |
848 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1170664286 CA354689509 |
850 | L>V | No |
ClinGen TOPMed |
|
|
rs1446968874 CA354689500 |
851 | I>V | No |
ClinGen gnomAD |
|
|
CA2639033 rs777091784 |
854 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1376743596 CA354689430 |
855 | S>T | No |
ClinGen TOPMed |
|
|
CA2639032 rs769142577 |
862 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 868 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1375597246 CA354689310 |
870 | V>M | No |
ClinGen TOPMed |
|
|
CA2639030 rs775925024 |
872 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1266116906 CA354689294 |
873 | A>T | No |
ClinGen gnomAD |
|
|
rs746011245 CA2639028 |
873 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs141548103 CA2639027 |
875 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1360261386 CA354689266 |
877 | N>S | No |
ClinGen TOPMed |
|
|
rs749228472 CA2639025 |
878 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2639024 rs777486647 |
881 | L>V | No |
ClinGen ExAC |
|
|
rs1395406638 CA354689208 |
886 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2639023 rs755961472 |
888 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2639022 rs752341311 |
889 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 890 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs949717088 CA83934716 |
892 | D>E | No |
ClinGen Ensembl |
|
| TCGA novel | 896 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000922273 rs142933486 CA2639011 |
896 | R>L | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs142933486 CA354689124 |
896 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs142933486 CA2639013 |
896 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA83934673 rs777541291 |
898 | I>M | No |
ClinGen Ensembl |
|
|
CA2639010 rs759710753 |
898 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774423662 CA2639009 |
899 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA354689077 rs1233285108 |
904 | S>P | No |
ClinGen TOPMed |
|
|
rs991602361 CA83934658 |
905 | C>F | No |
ClinGen Ensembl |
|
|
rs1194560107 CA354689071 |
905 | C>R | No |
ClinGen gnomAD |
|
|
rs771013500 CA2639008 |
906 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 908 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354688923 rs1349731012 |
926 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 930 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 930 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1224981079 | 930 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1340885639 CA354688383 |
936 | I>V | No |
ClinGen gnomAD |
|
|
CA83931633 rs1031499609 |
943 | G>E | No |
ClinGen Ensembl |
|
|
CA354688303 rs1577035184 |
947 | S>A | No |
ClinGen Ensembl |
|
|
rs774495137 CA2638988 |
947 | S>F | No |
ClinGen ExAC TOPMed |
|
|
CA354688259 rs1310997937 |
953 | R>M | No |
ClinGen gnomAD |
|
| TCGA novel | 963 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763059581 CA2638986 |
964 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1577035143 CA354688117 COSM1039052 |
967 | V>A | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA354688069 rs1261329221 |
971 | G>E | No |
ClinGen TOPMed |
|
| rs966729151 | 981 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374353184 CA2638983 |
981 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374353184 CA2638984 |
981 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA83931575 rs966729151 |
981 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1189503825 CA354687835 |
982 | F>L | No |
ClinGen TOPMed |
|
|
CA2638962 rs138462760 |
983 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2638961 rs771812474 |
983 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354687814 rs1285391197 |
984 | Q>R | No |
ClinGen gnomAD |
|
|
CA354687802 rs1406101857 |
985 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA354687703 rs1371429361 |
991 | L>V | No |
ClinGen gnomAD |
|
|
rs1405576100 CA354687667 |
995 | R>Q | No |
ClinGen gnomAD |
|
|
CA2638959 rs778509272 |
995 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA2638957 rs748684887 |
996 | H>R | No |
ClinGen ExAC |
|
|
CA354687644 rs1308863979 |
999 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 1004 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2638955 rs369600257 |
1005 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs368857092 CA83930828 |
1006 | L>R | No |
ClinGen Ensembl |
|
|
rs766758794 CA2638953 |
1008 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA354687579 rs1405294816 |
1009 | T>A | No |
ClinGen gnomAD |
|
|
CA354687553 rs1480445544 |
1013 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs750653605 CA2638951 |
1014 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs776612708 CA2638948 |
1018 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs760699898 CA2638946 |
1021 | I>L | No |
ClinGen ExAC |
|
| TCGA novel | 1021 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746904609 CA2638945 |
1021 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2638944 rs772008375 |
1024 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1453170251 CA354687442 |
1028 | L>F | No |
ClinGen gnomAD |
|
|
CA354687443 rs1453170251 |
1028 | L>V | No |
ClinGen gnomAD |
|
|
CA354687423 rs1334325100 |
1031 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1465069109 CA354687406 |
1033 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs752742313 CA2638926 |
1034 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2638925 rs767417124 |
1035 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA354687385 rs1188157039 |
1036 | E>A | No |
ClinGen TOPMed |
|
|
rs913398864 CA83930456 |
1040 | Q>H | No |
ClinGen Ensembl |
|
|
CA2638922 rs770441851 |
1045 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1446853233 CA354687310 |
1046 | D>G | No |
ClinGen gnomAD |
|
|
rs762695861 CA2638921 |
1047 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs992990404 CA83930439 |
1048 | A>S | No |
ClinGen Ensembl |
|
|
CA354687295 COSM1039051 rs1170276441 |
1048 | A>V | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA354687288 rs1171134914 |
1050 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 1051 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1480962969 CA354687276 |
1051 | E>V | No |
ClinGen gnomAD |
|
|
rs747499837 CA2638918 |
1055 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA354687244 rs1577031946 |
1056 | K>E | No |
ClinGen Ensembl |
|
|
CA2638917 rs780601424 |
1058 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1396175324 CA354687213 |
1060 | M>L | No |
ClinGen TOPMed |
|
|
rs372335398 CA2638915 |
1063 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1384758874 COSM1220598 CA354687179 |
1065 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 1070 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2638912 rs754106793 |
1071 | S>E | No |
ClinGen ExAC gnomAD |
|
|
CA2638911 rs777703512 |
1071 | S>S | No |
ClinGen ExAC gnomAD |
No associated diseases with P42338
8 regional properties for P42338
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Phosphatidylinositol 3-kinase Ras-binding (PI3K RBD) domain | 180 - 288 | IPR000341 |
| domain | Phosphatidylinositol 3-/4-kinase, catalytic domain | 772 - 1067 | IPR000403 |
| domain | Phosphoinositide 3-kinase, accessory (PIK) domain | 524 - 711 | IPR001263 |
| domain | C2 phosphatidylinositol 3-kinase-type domain | 321 - 496 | IPR002420 |
| domain | Phosphatidylinositol 3-kinase, adaptor-binding domain | 26 - 118 | IPR003113 |
| conserved_site | Phosphatidylinositol 3/4-kinase, conserved site | 804 - 818 | IPR018936-1 |
| conserved_site | Phosphatidylinositol 3/4-kinase, conserved site | 904 - 924 | IPR018936-2 |
| domain | PI3Kbeta, catalytic domain | 706 - 1067 | IPR037702 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.1.153 | Phosphotransferases with an alcohol group as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
11 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. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| midbody | A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| 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. |
| phosphatidylinositol 3-kinase complex | A protein complex capable of phosphatidylinositol 3-kinase activity and containing subunits of any phosphatidylinositol 3-kinase (PI3K) enzyme. These complexes are divided in three classes (called I, II and III) that differ for their presence across taxonomic groups and for the type of their constituents. Catalytic subunits of phosphatidylinositol 3-kinase enzymes are present in all 3 classes; regulatory subunits of phosphatidylinositol 3-kinase enzymes are present in classes I and III; adaptor proteins have been observed in class II complexes and may be present in other classes too. |
| phosphatidylinositol 3-kinase complex, class IA | A class I phosphatidylinositol 3-kinase complex that possesses 1-phosphatidylinositol-4-phosphate 3-kinase activity; comprises a catalytic class IA phosphoinositide 3-kinase (PI3K) subunit and an associated SH2 domain-containing regulatory subunit that is a member of a family of related proteins often called p85 proteins. Through the interaction with the SH2-containing adaptor subunits, Class IA PI3K catalytic subunits are linked to tyrosine kinase signaling pathways. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
10 GO annotations of molecular function
| Name | Definition |
|---|---|
| 1-phosphatidylinositol-3-kinase activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol + ATP = a 1-phosphatidyl-1D-myo-inositol 3-phosphate + ADP + 2 H(+). |
| 1-phosphatidylinositol-4-phosphate 3-kinase activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4-phosphate + ATP = 1-phosphatidyl-1D-myo-inositol 3,4-bisphosphate + ADP + 2 H(+). |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| insulin receptor substrate binding | Binding to an insulin receptor substrate (IRS) protein, an adaptor protein that bind to the transphosphorylated insulin and insulin-like growth factor receptors, are themselves phosphorylated and in turn recruit SH2 domain-containing signaling molecules to form a productive signaling complex. |
| kinase activity | Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. |
| phosphatidylinositol 3-kinase activity | Catalysis of the reaction: ATP + a phosphatidylinositol = ADP + a phosphatidylinositol 3-phosphate. This reaction is the addition of a phosphate group to phosphatidylinositol or one of its phosphorylated derivatives at the 3' position of the inositol ring. |
| phosphatidylinositol kinase activity | Catalysis of the reaction: ATP + a phosphatidylinositol = ADP + a phosphatidylinositol phosphate. |
| phosphatidylinositol-3,4-bisphosphate 5-kinase activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 3,4-bisphosphate + ATP = a 1-phosphatidyl-1D-myo-inositol 3,4,5-trisphosphate + ADP + 2 H(+). |
| phosphatidylinositol-4,5-bisphosphate 3-kinase activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + ATP = a 1-phosphatidyl-1D-myo-inositol 3,4,5-trisphosphate + ADP + 2 H(+). |
| protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
35 GO annotations of biological process
| Name | Definition |
|---|---|
| angiogenesis involved in wound healing | Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels and contribute to the series of events that restore integrity to a damaged tissue, following an injury. |
| autophagy | The cellular catabolic process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation. |
| cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. |
| cellular calcium ion homeostasis | Any process involved in the maintenance of an internal steady state of calcium ions at the level of a cell. |
| chemotaxis | The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). |
| embryonic cleavage | The first few specialized divisions of an activated animal egg. |
| endocytosis | A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. |
| endothelial cell proliferation | The multiplication or reproduction of endothelial cells, resulting in the expansion of a cell population. Endothelial cells are thin flattened cells which line the inside surfaces of body cavities, blood vessels, and lymph vessels, making up the endothelium. |
| G protein-coupled receptor signaling pathway | The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. |
| homophilic cell adhesion via plasma membrane adhesion molecules | The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell. |
| negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway | Any process that stops, prevents or reduces the frequency, rate or extent of hypoxia-induced intrinsic apoptotic signaling pathway. |
| negative regulation of MAP kinase activity | Any process that stops, prevents, or reduces the frequency, rate or extent of MAP kinase activity. |
| negative regulation of protein kinase B signaling | Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B. |
| negative regulation of sprouting angiogenesis | Any process that stops, prevents or reduces the frequency, rate or extent of sprouting angiogenesis. |
| negative regulation of vascular endothelial growth factor signaling pathway | Any process that stops, prevents or reduces the frequency, rate or extent of vascular endothelial growth factor signaling pathway. |
| phosphatidylinositol 3-kinase signaling | A series of reactions within the signal-receiving cell, mediated by the intracellular phosphatidylinositol 3-kinase (PI3K). Many cell surface receptor linked signaling pathways signal through PI3K to regulate numerous cellular functions. |
| phosphatidylinositol phosphate biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylinositol phosphate. |
| phosphatidylinositol-3-phosphate biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylinositol-3-phosphate, a phosphatidylinositol monophosphate carrying the phosphate group at the 3-position. |
| phosphatidylinositol-mediated signaling | The series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives. |
| phosphorylation | The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. |
| platelet activation | A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug. |
| platelet aggregation | The adhesion of one platelet to one or more other platelets via adhesion molecules. |
| positive regulation of autophagy | Any process that activates, maintains or increases the rate of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm. |
| positive regulation of endothelial cell migration | Any process that increases the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of neutrophil apoptotic process | Any process that activates or increases the frequency, rate, or extent of neutrophil apoptotic process. |
| positive regulation of nitric-oxide synthase activity | Any process that activates or increases the activity of the enzyme nitric-oxide synthase. |
| positive regulation of protein kinase B signaling | Any process that activates or increases the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B. |
| positive regulation of Rac protein signal transduction | Any process that activates or increases the frequency, rate or extent of Rac protein signal transduction. |
| regulation of cell-matrix adhesion | Any process that modulates the frequency, rate or extent of attachment of a cell to the extracellular matrix. |
| regulation of clathrin-dependent endocytosis | Any process that modulates the frequency, rate or extent of clathrin-mediated endocytosis. |
| response to ischemia | Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a inadequate blood supply. |
| 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. |
| sphingosine-1-phosphate receptor signaling pathway | A G protein-coupled receptor signaling pathway initiated by sphingosine-1-phosphate binding to its receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| transmembrane receptor protein tyrosine kinase signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription. |
14 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P32871 | PIK3CA | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform | Bos taurus (Bovine) | PR |
| P42336 | PIK3CA | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform | Homo sapiens (Human) | PR |
| P48736 | PIK3CG | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform | Homo sapiens (Human) | PR |
| Q9UBF8 | PI4KB | Phosphatidylinositol 4-kinase beta | Homo sapiens (Human) | PR |
| P42356 | PI4KA | Phosphatidylinositol 4-kinase alpha | Homo sapiens (Human) | PR |
| O00443 | PIK3C2A | Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha | Homo sapiens (Human) | PR |
| O00329 | PIK3CD | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform | Homo sapiens (Human) | PR |
| P42337 | Pik3ca | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform | Mus musculus (Mouse) | PR |
| Q9JHG7 | Pik3cg | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform | Mus musculus (Mouse) | PR |
| O35904 | Pik3cd | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform | Mus musculus (Mouse) | PR |
| Q8BTI9 | Pik3cb | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform | Mus musculus (Mouse) | PR |
| O02697 | PIK3CG | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform | Sus scrofa (Pig) | PR |
| Q9Z1L0 | Pik3cb | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform | Rattus norvegicus (Rat) | PR |
| Q94125 | age-1 | Phosphatidylinositol 3-kinase age-1 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MCFSFIMPPA | MADILDIWAV | DSQIASDGSI | PVDFLLPTGI | YIQLEVPREA | TISYIKQMLW |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KQVHNYPMFN | LLMDIDSYMF | ACVNQTAVYE | ELEDETRRLC | DVRPFLPVLK | LVTRSCDPGE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KLDSKIGVLI | GKGLHEFDSL | KDPEVNEFRR | KMRKFSEEKI | LSLVGLSWMD | WLKQTYPPEH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EPSIPENLED | KLYGGKLIVA | VHFENCQDVF | SFQVSPNMNP | IKVNELAIQK | RLTIHGKEDE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VSPYDYVLQV | SGRVEYVFGD | HPLIQFQYIR | NCVMNRALPH | FILVECCKIK | KMYEQEMIAI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EAAINRNSSN | LPLPLPPKKT | RIISHVWENN | NPFQIVLVKG | NKLNTEETVK | VHVRAGLFHG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TELLCKTIVS | SEVSGKNDHI | WNEPLEFDIN | ICDLPRMARL | CFAVYAVLDK | VKTKKSTKTI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NPSKYQTIRK | AGKVHYPVAW | VNTMVFDFKG | QLRTGDIILH | SWSSFPDELE | EMLNPMGTVQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TNPYTENATA | LHVKFPENKK | QPYYYPPFDK | IIEKAAEIAS | SDSANVSSRG | GKKFLPVLKE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ILDRDPLSQL | CENEMDLIWT | LRQDCREIFP | QSLPKLLLSI | KWNKLEDVAQ | LQALLQIWPK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LPPREALELL | DFNYPDQYVR | EYAVGCLRQM | SDEELSQYLL | QLVQVLKYEP | FLDCALSRFL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LERALGNRRI | GQFLFWHLRS | EVHIPAVSVQ | FGVILEAYCR | GSVGHMKVLS | KQVEALNKLK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| TLNSLIKLNA | VKLNRAKGKE | AMHTCLKQSA | YREALSDLQS | PLNPCVILSE | LYVEKCKYMD |
| 790 | 800 | 810 | 820 | 830 | 840 |
| SKMKPLWLVY | NNKVFGEDSV | GVIFKNGDDL | RQDMLTLQML | RLMDLLWKEA | GLDLRMLPYG |
| 850 | 860 | 870 | 880 | 890 | 900 |
| CLATGDRSGL | IEVVSTSETI | ADIQLNSSNV | AAAAAFNKDA | LLNWLKEYNS | GDDLDRAIEE |
| 910 | 920 | 930 | 940 | 950 | 960 |
| FTLSCAGYCV | ASYVLGIGDR | HSDNIMVKKT | GQLFHIDFGH | ILGNFKSKFG | IKRERVPFIL |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| TYDFIHVIQQ | GKTGNTEKFG | RFRQCCEDAY | LILRRHGNLF | ITLFALMLTA | GLPELTSVKD |
| 1030 | 1040 | 1050 | 1060 | ||
| IQYLKDSLAL | GKSEEEALKQ | FKQKFDEALR | ESWTTKVNWM | AHTVRKDYRS |