Q08881
EV
Gene name |
ITK (EMT, LYK) |
Protein name |
Tyrosine-protein kinase ITK/TSK |
Names |
EC 2.7.10.2 , Interleukin-2-inducible T-cell kinase , IL-2-inducible T-cell kinase , Kinase EMT , T-cell-specific kinase , Tyrosine-protein kinase Lyk |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3702 |
EC number |
2.7.10.2: Protein-tyrosine kinases |
Protein Class |
TYROSINE-PROTEIN KINASE (PTHR24418) |
Descriptions
ITK is a non-receptor tyrosine kinase that belongs to the TEC family. The five members of the TEC family kinases (BTK, ITK, TEC, TXK, and BMX) are expressed in various hematopoietic cell lineages and relay signals downstream of multiple immunological receptors. When antigen presenting cells (APC) activate T-cell receptor (TCR), a series of phosphorylation leads to the recruitment of ITK to the cell membrane, in the vicinity of the stimulated TCR receptor, where it is phosphorylated by LCK. Phosphorylation leads to ITK autophosphorylation and full activation. Once activated, phosphorylates PLCG1, leading to the activation of this lipase and subsequent cleavage of its substrates.
ITK autoinhibition involves intramolecular interactions that maintain the kinase in an inactive conformation. The regulatory domains involved in ITK autoinhibition include the SH3, SH2, SH2-kinase link, and PH domains. Specific interactions include the binding of the SH3 domain to the SH2-kinase linker, SH2-kinase linker interaction with the kinase domain, and the SH2 domain docking onto the C-lobe of the kinase domain. The PH domain also plays a role by interacting with the kinase domain.
Autoinhibitory domains (AIDs)
Target domain |
363-615 (Kinase domain) |
Relief mechanism |
Partner binding, PTM |
Assay |
Structural analysis |
Target domain |
363-615 (Kinase domain) |
Relief mechanism |
Partner binding, PTM |
Assay |
Structural analysis |
Target domain |
363-615 (Kinase domain) |
Relief mechanism |
Partner binding, Ligand binding, PTM |
Assay |
Structural analysis |
Target domain |
363-615 (Kinase domain) |
Relief mechanism |
|
Assay |
Structural analysis |
Accessory elements
499-523 (Activation loop from InterPro)
Target domain |
363-615 (Kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Kueffer LE et al. (2021) "Reining in BTK: Interdomain Interactions and Their Importance in the Regulatory Control of BTK", Frontiers in cell and developmental biology, 9, 655489
- Joseph RE et al. (2017) "Achieving a Graded Immune Response: BTK Adopts a Range of Active/Inactive Conformations Dictated by Multiple Interdomain Contacts", Structure (London, England : 1993), 25, 1481-1494.e4
- Wang Q et al. (2015) "Autoinhibition of Bruton's tyrosine kinase (Btk) and activation by soluble inositol hexakisphosphate", eLife, 4,
- Nocka LM et al. (2023) "Stimulation of the catalytic activity of the tyrosine kinase Btk by the adaptor protein Grb2", eLife, 12,
- Lowe J et al. (2022) "Conformational switches that control the TEC kinase - PLCγ signaling axis", Journal of structural biology: X, 6, 100061
- Boyken SE et al. (2014) "A conserved isoleucine maintains the inactive state of Bruton's tyrosine kinase", Journal of molecular biology, 426, 3656-69
Autoinhibited structure
Activated structure
37 structures for Q08881
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1SM2 | X-ray | 230 A | A/B | 357-620 | PDB |
| 1SNU | X-ray | 250 A | A/B | 357-620 | PDB |
| 1SNX | X-ray | 320 A | A/B | 357-620 | PDB |
| 2E6I | NMR | - | A | 113-169 | PDB |
| 2LMJ | NMR | - | A | 171-231 | PDB |
| 2YUQ | NMR | - | A | 162-239 | PDB |
| 3MIY | X-ray | 167 A | A/B | 357-620 | PDB |
| 3MJ1 | X-ray | 172 A | A | 357-620 | PDB |
| 3MJ2 | X-ray | 190 A | A | 357-620 | PDB |
| 3QGW | X-ray | 210 A | A/B | 357-620 | PDB |
| 3QGY | X-ray | 210 A | A/B | 357-620 | PDB |
| 3T9T | X-ray | 165 A | A | 354-620 | PDB |
| 3V5J | X-ray | 259 A | A/B | 357-620 | PDB |
| 3V5L | X-ray | 186 A | A/B/C/D | 357-620 | PDB |
| 3V8T | X-ray | 200 A | A/B | 357-620 | PDB |
| 3V8W | X-ray | 227 A | A/B | 357-620 | PDB |
| 4HCT | X-ray | 148 A | A | 354-620 | PDB |
| 4HCU | X-ray | 143 A | A | 354-620 | PDB |
| 4HCV | X-ray | 148 A | A | 354-620 | PDB |
| 4KIO | X-ray | 218 A | A/B/C/D | 357-620 | PDB |
| 4L7S | X-ray | 203 A | A/B | 357-620 | PDB |
| 4M0Y | X-ray | 170 A | A | 354-620 | PDB |
| 4M0Z | X-ray | 200 A | A | 354-620 | PDB |
| 4M12 | X-ray | 215 A | A | 354-620 | PDB |
| 4M13 | X-ray | 185 A | A | 354-620 | PDB |
| 4M14 | X-ray | 155 A | A | 354-620 | PDB |
| 4M15 | X-ray | 152 A | A | 354-620 | PDB |
| 4MF0 | X-ray | 267 A | A/B | 357-620 | PDB |
| 4MF1 | X-ray | 211 A | A/B | 357-620 | PDB |
| 4PP9 | X-ray | 258 A | A/B | 357-620 | PDB |
| 4PPA | X-ray | 267 A | A/B | 357-620 | PDB |
| 4PPB | X-ray | 282 A | A/B | 357-620 | PDB |
| 4PPC | X-ray | 295 A | A/B | 357-620 | PDB |
| 4PQN | X-ray | 171 A | A | 357-620 | PDB |
| 4QD6 | X-ray | 245 A | A/B | 357-620 | PDB |
| 4RFM | X-ray | 210 A | A | 357-620 | PDB |
| AF-Q08881-F1 | Predicted | AlphaFoldDB |
467 variants for Q08881
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1580869283 RCV000791571 CA361966473 |
28 | V>F | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1064916 rs397514261 RCV000054558 CA144697 |
29 | R>H | Lymphoproliferative syndrome 1 (lpfs1) Variant assessed as Somatic; 0.0 impact. endometrium Lymphoproliferative syndrome 1 [Ensembl, NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1753503357 RCV001346786 |
31 | F>L | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001050342 rs1753504528 |
45 | H>L | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs772972728 RCV001061095 CA3532643 |
47 | K>N | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV001155096 rs762768477 CA3532644 |
49 | R>H | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3532646 rs774040719 RCV001068223 |
50 | T>M | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200593448 RCV001221645 CA3532651 |
55 | I>T | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA361947733 RCV001351801 rs1286793954 |
65 | I>T | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001306117 rs1386860362 CA361947956 |
71 | S>N | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1386860362 RCV001212205 CA361947961 |
71 | S>T | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001041943 CA3532692 rs372181411 |
96 | R>C | Variant assessed as Somatic; 0.0 impact. Lymphoproliferative syndrome 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA3532693 rs751865122 COSM94535 RCV001202895 |
96 | R>H | lung Lymphoproliferative syndrome 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002263631 rs751865122 RCV001035764 CA3532694 |
96 | R>P | Autoinflammatory syndrome Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001294213 rs1754188575 |
99 | R>W | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001348760 CA3532699 rs150470437 |
108 | E>G | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
COSM94536 CA3532729 RCV001212763 rs778357395 |
110 | T>M | lung Lymphoproliferative syndrome 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs577305220 CA3532734 RCV001203216 |
119 | K>R | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA361950916 RCV001203322 rs1362373639 |
122 | P>T | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs775741366 CA3532735 CA3532736 RCV001308650 |
126 | M>I | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
CA130138405 rs201959697 RCV001297262 |
129 | K>R | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs540238373 RCV001210029 CA3532739 |
136 | L>P | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001059970 rs75593900 |
137 | E>V | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM3429189 RCV001342923 CA3532746 rs755833813 |
150 | K>N | large_intestine Lymphoproliferative syndrome 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3532769 rs533252659 CA361951679 RCV000810141 |
165 | R>S | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000823562 rs1452423111 CA361952935 |
176 | V>I | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001156750 rs1754451258 |
177 | I>V | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1561657402 RCV000703367 CA361952978 |
180 | Y>C | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs534229766 RCV000801808 CA3532806 |
191 | A>T | Variant assessed as Somatic; 0.0 impact. Lymphoproliferative syndrome 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA3532810 RCV002263632 VAR_051696 RCV000556958 rs17054374 RCV003151042 |
193 | R>Q | Autoinflammatory syndrome Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001037364 rs755761978 CA3532813 |
194 | R>H | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs777670016 COSM207026 RCV001299203 CA3532815 |
196 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium Lymphoproliferative syndrome 1 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001850862 RCV001731622 rs757871566 |
209 | W>missing | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000650367 RCV002531958 CA3532825 RCV000659037 rs142038079 |
211 | V>L | Inborn genetic diseases Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3532849 rs200825710 RCV000815212 |
223 | S>G | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201567966 RCV000796230 CA130145423 |
225 | Y>C | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001267766 rs1754673755 |
240 | Y>C | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3532873 rs761513530 RCV000650365 |
242 | K>R | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001218263 rs1294640313 CA361956251 |
247 | D>E | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1754675255 RCV001309053 |
253 | L>P | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000650366 CA3532879 rs115751349 |
256 | T>I | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001068487 CA3532901 rs753847568 |
264 | V>I | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs780522355 CA3532906 RCV001234120 |
275 | V>M | Variant assessed as Somatic; 0.0 impact. Lymphoproliferative syndrome 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA3532908 RCV000289869 rs202191474 |
282 | V>I | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1580905431 RCV000814446 CA361957824 |
291 | K>N | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000624052 rs1554102738 |
305 | Y>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3532940 RCV001229362 rs138078237 |
314 | D>H | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3532976 rs546493307 RCV001211093 |
335 | R>Q | Lymphoproliferative syndrome 1 (lpfs1) Lymphoproliferative syndrome 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs121908191 CA122669 VAR_063424 RCV000013578 |
335 | R>W | Lymphoproliferative syndrome 1 (lpfs1) Lymphoproliferative syndrome 1 LPFS1; shows nearly undetectable mutant ITK protein consistent with severe protein instability [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA361959006 RCV000802103 rs1421908099 RCV001816862 |
345 | A>V | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs886060326 RCV000347206 CA10621069 |
347 | V>I | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000402272 COSM1696654 rs886060327 CA10619844 |
354 | G>R | Variant assessed as Somatic; 0.0 impact. skin Lymphoproliferative syndrome 1 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
rs142689933 RCV001043162 CA361959730 |
358 | I>M | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001324964 CA361959732 rs760908622 RCV003166902 |
359 | D>H | Inborn genetic diseases Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001214472 rs1031236089 CA130158876 |
361 | S>L | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001151304 rs1754959182 |
364 | T>A | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs773691716 TCGA novel RCV001313374 |
375 | G>V | Variant assessed as Somatic; impact. Lymphoproliferative syndrome 1 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
CA3533013 rs767083015 COSM207030 RCV000702541 |
385 | K>E | Variant assessed as Somatic; 0.0 impact. large_intestine Lymphoproliferative syndrome 1 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1754961162 RCV001151305 |
393 | I>V | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002561729 CA3533016 RCV001210063 rs777757937 |
394 | R>Q | Inborn genetic diseases Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs953401521 CA130159278 RCV001214473 |
412 | K>R | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs150270557 RCV001816849 CA3533049 RCV000794655 |
428 | Q>K | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001345550 rs1754976541 |
428 | Q>R | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001338906 CA3533060 rs143652027 |
448 | R>C | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM3246304 RCV000699807 CA3533061 rs144735141 RCV000762242 |
448 | R>H | Variant assessed as Somatic; 0.0 impact. pancreas Lymphoproliferative syndrome 1 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs200331133 RCV002533480 COSM1435542 RCV000697245 RCV001816717 RCV000788219 CA3533063 |
451 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine Lymphoproliferative syndrome 1 Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001042069 rs1754980034 |
465 | D>A | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001350552 rs1754979969 |
465 | D>N | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3533073 RCV000800474 rs368438364 |
471 | A>T | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs758820629 CA3533101 RCV000536255 |
498 | V>L | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000650364 rs151046132 CA3533103 RCV000998476 |
504 | T>S | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001042378 rs755630347 |
506 | F>L | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs753217800 CA3533141 RCV001331416 |
525 | A>T | Variant assessed as Somatic; 0.0 impact. Lymphoproliferative syndrome 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs756611419 RCV001221644 CA3533142 |
526 | S>Y | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001816870 rs745561238 RCV000804502 CA361962584 |
534 | R>H | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA361962899 RCV000698932 rs1561666191 |
553 | S>N | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000701939 rs142618425 CA3533166 |
562 | R>Q | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs962121468 CA130162580 RCV001349327 |
570 | D>G | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000355187 CA3533173 rs144950783 |
571 | I>V | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs140542010 RCV000551011 CA361963203 |
572 | S>N | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA3533182 RCV001050245 rs548875154 |
581 | R>Q | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA3533181 VAR_041713 RCV000650370 RCV001786380 RCV002263636 rs34482255 |
581 | R>W | Autoinflammatory syndrome Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002263838 CA3533186 RCV000762243 VAR_041714 rs56005928 RCV001821760 RCV000625020 |
587 | V>I | Lymphoproliferative syndrome 1 (lpfs1) Autoinflammatory syndrome Lymphoproliferative syndrome 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM48874 CA144694 rs397514260 RCV000054557 |
588 | Y>* | lung Lymphoproliferative syndrome 1 (lpfs1) Lymphoproliferative syndrome 1 [Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA3533188 rs370632752 RCV001155195 |
588 | Y>H | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001221553 rs1755079116 |
590 | I>M | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001299661 CA3533220 rs748509752 |
602 | R>Q | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA3533224 rs763559802 RCV000824103 |
610 | R>C | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs138438785 COSM150005 RCV000650368 CA3533225 |
610 | R>H | Variant assessed as Somatic; 0.0 impact. stomach Lymphoproliferative syndrome 1 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001208800 CA3533231 rs148858888 |
621 | L>Q | Lymphoproliferative syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA361966108 rs1378999585 |
2 | N>S | No |
ClinGen gnomAD |
|
|
rs776585958 CA3532604 |
3 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA361966115 rs1287758453 |
3 | N>S | No |
ClinGen gnomAD |
|
|
rs1393178996 CA361966120 |
4 | F>L | No |
ClinGen gnomAD |
|
|
CA361966131 rs1325310385 |
5 | I>T | No |
ClinGen gnomAD |
|
|
COSM207024 CA130151052 rs868709834 |
8 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA3532608 rs758061743 |
10 | Q>E | No |
ClinGen ExAC |
|
|
rs751083005 CA361966210 |
12 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1202193739 CA361966273 |
16 | Q>K | No |
ClinGen Ensembl |
|
|
CA3532612 rs781686293 |
17 | Q>* | Lymphoproliferative syndrome 1 (lpfs1) [Ensembl] | No |
ClinGen ExAC gnomAD |
| VAR_041710 | 19 | R>K | a metastatic melanoma sample; somatic mutation [UniProt] | No | UniProt |
| VAR_041711 | 23 | P>L | a metastatic melanoma sample; somatic mutation [UniProt] | No | UniProt |
| TCGA novel | 23 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA130151064 rs111423533 |
24 | S>T | No |
ClinGen Ensembl |
|
|
CA130151086 rs201513154 COSM1435534 |
29 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed |
|
rs756484580 COSM1435535 CA3532614 |
30 | F>L | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 30 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361966534 rs1179937592 |
32 | V>M | No |
ClinGen gnomAD |
|
|
CA3532615 rs778189459 |
36 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 37 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140064341 CA3532617 |
39 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361966641 rs140064341 |
39 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3532618 rs774659403 |
44 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA3532619 rs774659403 |
44 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA3532620 rs201892355 |
44 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1164561019 CA361966762 |
46 | G>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 48 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376961787 CA130136169 |
49 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
rs1297430246 CA361947319 |
51 | L>P | No |
ClinGen TOPMed |
|
|
CA361947418 rs1561652560 |
53 | G>A | No |
ClinGen Ensembl |
|
|
CA3532649 rs752258747 |
54 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3532650 rs760049982 |
55 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754361306 CA3532652 |
56 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA130136186 rs946804846 |
59 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs757740059 COSM175471 CA3532653 |
59 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1432709261 CA361947563 |
60 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs750736839 CA3532655 |
61 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361947627 rs1216454556 |
62 | C>G | No |
ClinGen TOPMed |
|
|
CA361947698 rs1360874103 |
64 | E>V | No |
ClinGen gnomAD |
|
|
rs758696074 CA3532656 |
65 | I>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361947930 rs1360825341 |
70 | I>T | No |
ClinGen gnomAD |
|
|
rs1302681288 CA361947978 |
72 | I>V | No |
ClinGen gnomAD |
|
|
CA3532657 rs780078290 |
73 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs780078290 CA3532658 |
73 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1272674224 CA361947986 |
73 | P>T | No |
ClinGen TOPMed |
|
|
CA3532660 rs777806304 |
76 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA3532662 rs770772353 |
79 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs10039644 CA130137139 |
83 | V>G | No |
ClinGen Ensembl |
|
|
CA130137143 rs761346212 |
85 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361949521 rs1580887018 |
87 | Y>C | No |
ClinGen Ensembl |
|
|
rs1580887015 CA361949489 |
87 | Y>N | No |
ClinGen Ensembl |
|
|
CA361949550 rs1334373357 |
88 | L>H | No |
ClinGen gnomAD |
|
|
CA361949657 rs1232203792 |
93 | A>V | No |
ClinGen gnomAD |
|
|
CA130137150 rs535898832 |
95 | D>G | No |
ClinGen 1000Genomes |
|
|
rs372181411 CA361949723 |
96 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1293136647 COSM449191 CA361949797 |
99 | R>Q | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA361949841 rs1456748977 |
100 | Q>L | No |
ClinGen TOPMed |
|
|
rs767660056 CA3532695 |
101 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs752789103 CA3532696 |
101 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3532698 rs778856924 |
103 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 106 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1273395485 CA361950843 |
111 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3532731 CA3532730 rs748766592 |
112 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA130138386 rs977795457 |
113 | N>S | No |
ClinGen Ensembl |
|
|
CA361950861 rs1204901741 |
114 | N>H | No |
ClinGen TOPMed |
|
|
rs759851827 CA3532733 |
115 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361950891 rs1252936560 |
118 | P>R | No |
ClinGen gnomAD |
|
|
CA361950909 rs1184462360 COSM1696650 |
121 | H>Y | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 122 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 123 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs998574259 CA130138392 |
125 | W>R | No |
ClinGen TOPMed |
|
|
rs747427066 CA130138393 |
126 | M>T | No |
ClinGen Ensembl |
|
|
CA361950954 rs1164090663 |
127 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 129 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 131 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1393642606 CA361951013 COSM3827530 |
135 | Q>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM1435537 rs75593900 CA130138419 |
137 | E>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA3532743 rs372432770 |
145 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3532742 rs372432770 |
145 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1293593266 CA361951090 |
146 | Y>* | No |
ClinGen gnomAD |
|
|
CA361951092 rs1463419892 |
147 | D>H | No |
ClinGen TOPMed |
|
|
CA361951128 rs1417960086 |
150 | K>Q | No |
ClinGen TOPMed |
|
|
CA361951552 rs759542045 |
154 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759542045 CA3532761 |
154 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3532762 rs767495164 |
156 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA3532763 rs752554340 |
158 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs752554340 CA361951597 |
158 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs763687781 CA3532765 |
159 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361951624 rs1489592386 |
161 | P>A | No |
ClinGen gnomAD |
|
|
rs753499830 CA3532767 |
165 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3532768 rs756769858 |
165 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3784748 rs775620207 CA3532800 |
166 | R>* | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs760650238 COSM258607 CA3532801 |
166 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs377443972 CA130142436 |
167 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs377443972 CA361952836 |
167 | P>Q | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 167 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361952846 rs1305111644 |
168 | L>F | No |
ClinGen TOPMed |
|
|
CA3532803 rs776493663 |
171 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA130142450 rs374706544 |
172 | E>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1330269502 CA361952890 |
172 | E>K | No |
ClinGen TOPMed |
|
|
rs1254827359 CA361952911 |
173 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 175 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761462022 CA3532804 |
176 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361952957 rs1289537330 |
178 | A>V | No |
ClinGen TOPMed |
|
|
CA130142456 rs145406639 |
181 | D>E | No |
ClinGen ESP gnomAD |
|
|
rs369289895 CA130142455 |
181 | D>N | No |
ClinGen ESP TOPMed |
|
|
rs1175724581 CA361953003 |
182 | Y>C | No |
ClinGen TOPMed |
|
|
CA361953029 rs1455015135 |
184 | T>I | No |
ClinGen TOPMed |
|
|
rs1561657410 CA361953039 |
185 | N>S | No |
ClinGen Ensembl |
|
|
rs1377414531 CA361953046 |
186 | D>Y | No |
ClinGen TOPMed |
|
|
rs1156578676 CA361953063 |
187 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1410759113 COSM332460 CA361953101 |
190 | L>I | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs377040001 CA130142475 |
191 | A>E | No |
ClinGen Ensembl |
|
|
CA3532807 rs534229766 |
191 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1435539 rs765859749 CA3532808 |
193 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs146738280 CA3532812 |
194 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs755761978 CA361953138 COSM1754152 |
194 | R>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 195 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs908186279 CA130142520 |
195 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA361953149 rs988688399 |
195 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3532816 rs749116685 |
197 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361953167 rs1580894224 |
197 | E>Q | No |
ClinGen Ensembl |
|
|
rs375891139 CA130142535 |
199 | C>R | No |
ClinGen Ensembl |
|
|
CA3532817 rs770931674 |
199 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3532818 rs778995588 |
200 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA3532821 rs776618447 |
203 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA3532822 rs762058624 |
203 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 205 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3532823 rs371700137 |
206 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1404212440 CA361953281 |
208 | W>R | No |
ClinGen gnomAD |
|
|
CA361953308 rs1401689597 |
211 | V>A | No |
ClinGen TOPMed |
|
|
rs1171207787 CA361953314 |
212 | Q>R | No |
ClinGen TOPMed |
|
|
CA130142573 rs369919319 |
214 | R>G | No |
ClinGen Ensembl |
|
|
CA130142574 rs926383104 |
215 | N>S | No |
ClinGen TOPMed |
|
|
rs1014119864 CA130145390 |
218 | E>G | No |
ClinGen Ensembl |
|
|
CA361954464 rs774619675 |
219 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA3532848 rs774619675 |
219 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1011366840 CA361954526 |
222 | P>S | No |
ClinGen TOPMed |
|
|
rs1011366840 CA130145397 |
222 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 223 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 224 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1580897546 CA361954609 |
227 | V>M | No |
ClinGen Ensembl |
|
|
CA361954636 rs1212735628 |
228 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA361954662 rs1250718206 |
229 | K>T | No |
ClinGen TOPMed |
|
|
CA361954699 rs1210243736 |
232 | N>D | No |
ClinGen TOPMed |
|
|
rs753524613 CA361954774 |
236 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3532854 rs753524613 |
236 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 237 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 238 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1215926130 CA361954796 |
238 | E>K | No |
ClinGen gnomAD |
|
|
CA3532872 rs776317714 |
239 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1456788791 CA361956103 |
239 | W>G | No |
ClinGen gnomAD |
|
|
rs575524734 CA130148249 |
241 | N>D | No |
ClinGen Ensembl |
|
|
CA361956162 rs1561660486 |
241 | N>S | No |
ClinGen Ensembl |
|
|
rs1442950018 CA361956180 |
243 | S>C | No |
ClinGen gnomAD |
|
|
rs764814711 CA3532874 |
243 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA361956233 rs1245292885 |
246 | R>* | No |
ClinGen TOPMed |
|
|
rs1230916806 CA361956235 COSM3776469 |
246 | R>Q | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA361956250 rs1239495255 |
247 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs577818321 CA3532876 |
249 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1280985491 CA361956277 |
249 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1314662342 CA361956297 |
250 | E>D | No |
ClinGen TOPMed |
|
|
CA3532877 rs766256818 |
253 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA3532878 rs145877465 |
255 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1379215056 CA361956370 |
256 | T>A | No |
ClinGen TOPMed |
|
|
rs972060964 CA361957133 |
257 | G>C | No |
ClinGen TOPMed |
|
|
rs972060964 CA130155523 |
257 | G>R | No |
ClinGen TOPMed |
|
|
rs1561662471 CA361957134 |
257 | G>V | No |
ClinGen Ensembl |
|
|
CA3532899 rs759419301 |
260 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs767455537 CA3532900 |
261 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 263 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361957172 rs1160403884 |
263 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 266 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1255373100 CA361957228 |
271 | G>E | No |
ClinGen gnomAD |
|
|
rs1169561172 CA361957235 |
272 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 278 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1311334077 CA361957286 |
280 | K>R | No |
ClinGen gnomAD |
|
|
rs202191474 CA3532909 |
282 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766717239 CA3532924 |
284 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs141147698 CA3532926 |
286 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748573843 CA3532928 |
287 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA130156904 rs867418567 |
288 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA3532929 rs756676468 |
289 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA3532930 rs150729024 |
290 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA130156910 rs150729024 |
290 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1450250931 CA361957860 |
294 | H>P | No |
ClinGen TOPMed |
|
|
CA361957893 rs1464355017 |
296 | K>E | No |
ClinGen gnomAD |
|
|
CA361957979 rs1194049024 |
300 | D>G | No |
ClinGen gnomAD |
|
|
CA130156916 rs879199229 |
300 | D>Y | No |
ClinGen Ensembl |
|
|
CA361958009 rs1427060611 |
302 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361958047 rs1380849049 |
303 | K>N | No |
ClinGen TOPMed |
|
|
CA361958036 rs1417215885 |
303 | K>R | No |
ClinGen gnomAD |
|
|
CA3532931 rs748842677 |
304 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 305 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3532932 rs770504605 |
305 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3532936 rs771829181 |
308 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs760485497 CA361958157 CA3532938 |
310 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3532939 rs764110831 |
312 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs138078237 CA361958212 |
314 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3532941 rs763088444 |
316 | I>N | No |
ClinGen ExAC |
|
|
rs1001809076 CA130156944 |
316 | I>V | No |
ClinGen Ensembl |
|
|
CA3532942 rs766625478 |
318 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3532944 rs755292379 |
325 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753127825 CA3532946 |
328 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs746701604 CA3532975 |
333 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA130157848 rs113412663 |
334 | L>P | No |
ClinGen Ensembl |
|
|
CA361958898 rs1344120880 |
336 | Y>C | No |
ClinGen gnomAD |
|
|
rs1398830172 CA361958945 |
340 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 343 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1202690965 COSM3381175 CA361958999 |
345 | A>T | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA361959033 rs1358243764 |
348 | T>R | No |
ClinGen TOPMed |
|
|
CA361959044 rs1485773240 |
349 | A>V | No |
ClinGen gnomAD |
|
|
rs1036041538 CA130157869 |
351 | L>R | No |
ClinGen Ensembl |
|
|
rs774515901 CA3532981 |
353 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361959649 rs1580907931 |
355 | K>* | No |
ClinGen Ensembl |
|
| TCGA novel | 356 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3533000 rs772167595 |
357 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs985783890 CA130158873 |
359 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3533002 rs760908622 |
359 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3533003 rs768780225 |
361 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA361959845 rs1272727560 |
364 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3533005 rs762166678 |
365 | F>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 365 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361959880 rs1228504835 |
366 | V>M | No |
ClinGen gnomAD |
|
|
CA361959968 rs1561664442 |
371 | S>N | No |
ClinGen Ensembl |
|
|
rs773691716 CA3533007 |
375 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1453699268 CA361960115 |
377 | V>A | No |
ClinGen gnomAD |
|
|
CA361960122 rs1246381273 |
378 | H>N | No |
ClinGen gnomAD |
|
|
CA3533010 rs751053755 |
378 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1371428854 CA361960389 |
388 | V>M | No |
ClinGen TOPMed |
|
|
rs1406879932 CA361960429 |
390 | I>V | No |
ClinGen gnomAD |
|
|
CA3533014 rs752466358 |
392 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs202119873 CA361960509 |
394 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3533017 rs777757937 |
394 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202119873 COSM1132226 CA3533015 |
394 | R>W | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3533018 rs757172605 |
396 | G>E | No |
ClinGen ExAC TOPMed |
|
|
rs1280975705 CA361960536 |
396 | G>R | No |
ClinGen gnomAD |
|
|
rs1289799228 CA361960555 |
397 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1289799228 CA361960547 |
397 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs780129014 CA3533019 |
399 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA3533020 rs567914627 |
400 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA361960655 rs1561664502 |
401 | E>Q | No |
ClinGen Ensembl |
|
|
rs1266552256 CA361960732 |
404 | I>V | No |
ClinGen gnomAD |
|
|
CA3533021 rs199801289 |
407 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361960831 rs1208457819 |
409 | V>I | No |
ClinGen gnomAD |
|
|
CA361960832 rs1208457819 COSM1064925 |
409 | V>L | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs776824188 CA3533022 |
410 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1244964821 CA361960887 |
411 | M>T | No |
ClinGen TOPMed |
|
| TCGA novel | 411 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3533042 rs748333897 |
414 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA361961062 rs748333897 |
414 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 414 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 415 | H>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1449853934 CA361961109 |
417 | K>N | No |
ClinGen gnomAD |
|
|
rs1391284200 CA361961102 |
417 | K>T | No |
ClinGen TOPMed |
|
|
rs796503412 CA130159288 |
418 | L>V | No |
ClinGen Ensembl |
|
|
CA361961151 rs1170207383 |
420 | Q>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361961210 rs1303038175 |
423 | G>W | No |
ClinGen gnomAD |
|
|
rs1366470006 CA361961265 |
427 | E>Q | No |
ClinGen gnomAD |
|
|
CA361961271 rs1413869668 |
427 | E>V | No |
ClinGen TOPMed |
|
|
CA3533050 rs775170349 |
429 | A>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 431 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361961322 rs1418454466 |
432 | C>R | No |
ClinGen gnomAD |
|
| TCGA novel | 433 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1234292410 CA361961362 |
434 | V>G | No |
ClinGen gnomAD |
|
|
rs753598675 CA3533053 |
435 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 436 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199876568 CA361961383 |
436 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1199876568 CA361961385 |
436 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA130159321 rs889573145 |
438 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs761505225 CA3533054 |
439 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs139927533 CA361961459 |
440 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361961473 rs1213589953 |
441 | G>S | No |
ClinGen TOPMed |
|
|
CA3533059 rs752788773 |
445 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs564166795 CA3533058 |
445 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3533062 rs144735141 |
448 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144735141 CA361961576 |
448 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA16622011 rs1437960174 |
450 | Q>H | No |
ClinGen gnomAD |
|
|
CA361961605 rs1390044627 |
450 | Q>L | No |
ClinGen gnomAD |
|
|
CA3533064 COSM20531 VAR_041712 rs779372373 |
451 | R>Q | stomach Variant assessed as Somatic; 4.622e-05 impact. a gastric adenocarcinoma sample; somatic mutation [Cosmic, NCI-TCGA, UniProt] | No |
ClinGen cosmic curated UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1580908657 CA361961632 |
452 | G>A | No |
ClinGen Ensembl |
|
|
rs1387693656 CA361961643 |
453 | L>P | No |
ClinGen gnomAD |
|
|
CA3533065 rs746321007 |
457 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159610636 CA361961721 |
458 | T>N | No |
ClinGen TOPMed |
|
|
CA3533066 rs772726821 |
460 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3533068 rs775078320 |
464 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 468 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1580908718 CA361961881 |
469 | G>S | No |
ClinGen Ensembl |
|
|
CA3533072 rs764904457 |
470 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs762823760 CA3533074 |
472 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 475 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3533075 rs766310222 |
475 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA130159390 rs148915151 |
475 | E>K | No |
ClinGen Ensembl |
|
|
CA3533076 rs751565550 |
477 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1458355048 CA361961987 |
478 | V>I | No |
ClinGen gnomAD |
|
|
CA3533079 rs142788740 |
483 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361962065 rs1469011110 |
485 | A>S | No |
ClinGen gnomAD |
|
|
CA361962084 rs1228858272 |
487 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 488 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361962113 rs1314764667 |
492 | E>* | No |
ClinGen gnomAD |
|
|
CA3533100 rs750736762 |
492 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 502 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3533102 rs780612149 |
503 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 503 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3533127 rs777307182 |
507 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA3533126 rs777307182 |
507 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3533128 rs770592423 |
508 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3533129 rs778621770 |
510 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3533132 rs775482163 |
513 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1269237978 CA361962395 |
517 | G>S | No |
ClinGen gnomAD |
|
|
CA3533136 rs763213676 |
518 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs751900483 CA3533138 |
520 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs759932471 CA3533139 |
521 | P>L | Lymphoproliferative syndrome 1 (lpfs1) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759932471 CA361962446 |
521 | P>R | Lymphoproliferative syndrome 1 (lpfs1) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
| TCGA novel | 522 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361962459 rs1375598682 |
523 | K>Q | No |
ClinGen TOPMed |
|
|
rs1449427771 CA361962524 |
529 | V>I | No |
ClinGen Ensembl |
|
|
CA3533143 rs777213383 |
530 | F>S | No |
ClinGen ExAC |
|
|
CA361962555 rs1446693055 |
531 | S>F | No |
ClinGen TOPMed |
|
|
CA3533145 rs756835896 |
532 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA3533147 rs745561238 |
534 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA130160607 rs886713435 |
540 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361962679 rs1398771248 |
542 | W>* | No |
ClinGen gnomAD |
|
|
rs1462298221 CA361962689 |
543 | S>P | No |
ClinGen TOPMed |
|
|
CA361962821 rs1309265847 |
546 | V>G | No |
ClinGen gnomAD |
|
|
CA361962839 rs1184747777 |
548 | M>T | No |
ClinGen TOPMed |
|
|
CA361962835 rs1370312134 |
548 | M>V | No |
ClinGen TOPMed |
|
|
CA361962860 rs1239045369 |
550 | E>* | No |
ClinGen gnomAD |
|
|
rs1207540324 CA361963040 RCV001091684 |
562 | R>* | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| TCGA novel | 563 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746787301 CA3533167 |
565 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA3533169 rs781266811 |
568 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1161396558 CA361963156 |
569 | E>G | No |
ClinGen gnomAD |
|
|
rs1430047012 CA361963165 |
570 | D>N | No |
ClinGen gnomAD |
|
|
rs144950783 CA361963184 |
571 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1335459963 CA361963188 |
571 | I>T | No |
ClinGen gnomAD |
|
|
rs772195553 CA3533174 |
572 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA3533175 rs140542010 |
572 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772195553 CA361963195 |
572 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA130162607 rs140542010 |
572 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777096641 CA361963240 |
574 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3533178 rs777096641 |
574 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3533179 rs762344567 |
576 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA130162630 rs200508398 |
576 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs972999696 CA361963846 |
578 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA130162677 rs972999696 |
578 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs764684422 CA3533180 |
579 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361963863 rs1462558122 |
580 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs34482255 CA361963873 |
581 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200077959 CA3533183 |
583 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1190124755 CA361963906 |
585 | T>A | No |
ClinGen gnomAD |
|
|
rs1561666282 CA361963912 |
585 | T>I | No |
ClinGen Ensembl |
|
|
rs751288025 CA3533184 |
586 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA3533187 rs748059245 |
587 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs554375207 CA3533189 |
590 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA130162768 rs1042872017 |
590 | I>S | No |
ClinGen TOPMed |
|
|
CA361963989 rs1366452228 |
592 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs781268135 CA130162782 |
593 | H>Q | No |
ClinGen Ensembl |
|
|
rs768887325 CA3533218 |
599 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA361964232 rs748509752 |
602 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA3533219 rs781475918 |
602 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1276005388 CA361964250 |
604 | A>D | No |
ClinGen TOPMed |
|
|
CA361964283 rs1458679815 |
607 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1458679815 CA361964285 |
607 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA361964306 rs763559802 |
610 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3533227 rs759209198 |
611 | Q>E | No |
ClinGen ExAC |
|
|
CA361964322 rs1007738422 |
612 | L>M | No |
ClinGen TOPMed |
|
|
rs1404434133 CA361964338 |
614 | E>K | No |
ClinGen gnomAD |
|
|
rs1416056644 CA361964360 |
615 | I>M | No |
ClinGen TOPMed |
|
|
CA361964358 rs1409466375 |
615 | I>S | No |
ClinGen Ensembl |
|
|
CA3533228 rs767280421 |
616 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752462162 CA3533229 |
616 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs571357595 CA3533230 |
617 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361964380 rs1452339937 |
617 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 618 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1304772098 CA361964405 |
620 | L>F | No |
ClinGen gnomAD |
|
|
CA3533232 rs753686927 |
621 | L>W | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q08881
[MIM: 616576]: Immunodeficiency, common variable, 12, with autoimmunity (CVID12)
A primary immunodeficiency characterized by hypogammaglobulinemia and recurrent bacterial infections. About half of patients develop autoimmune features, including cytopenia, as well as generalized inflammation and lymphoproliferation manifest as lymphadenopathy or hepatosplenomegaly. {ECO:0000269|PubMed:26279205}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A primary immunodeficiency characterized by hypogammaglobulinemia and recurrent bacterial infections. About half of patients develop autoimmune features, including cytopenia, as well as generalized inflammation and lymphoproliferation manifest as lymphadenopathy or hepatosplenomegaly. {ECO:0000269|PubMed:26279205}. Note=The disease is caused by variants affecting the gene represented in this entry.
10 regional properties for Q08881
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | FERM domain | 5 - 295 | IPR000299 |
| domain | Ezrin/radixin/moesin, C-terminal | 511 - 586 | IPR011259 |
| domain | FERM, N-terminal | 9 - 68 | IPR018979 |
| domain | FERM, C-terminal PH-like domain | 210 - 299 | IPR018980 |
| conserved_site | FERM conserved site | 58 - 88 | IPR019747-1 |
| conserved_site | FERM conserved site | 176 - 205 | IPR019747-2 |
| domain | FERM central domain | 91 - 206 | IPR019748 |
| domain | Band 4.1 domain | 1 - 206 | IPR019749 |
| domain | ERM family, FERM domain C-lobe | 200 - 296 | IPR041789 |
| domain | Ezrin/radixin/moesin, alpha-helical domain | 337 - 456 | IPR046810 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.10.2 | Protein-tyrosine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR24418 | TYROSINE-PROTEIN KINASE |
| PANTHER Subfamily | PTHR24418:SF61 | TYROSINE-PROTEIN KINASE ITK_TSK |
| PANTHER Protein Class | non-receptor tyrosine protein kinase | |
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell-cell junction | A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| metal ion binding | Binding to a metal ion. |
| non-membrane spanning protein tyrosine kinase activity | Catalysis of the reaction |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of phospholipase C activity | The initiation of the activity of the inactive enzyme phospolipase C as the result of The series of molecular signals generated as a consequence of a G protein-coupled receptor binding to its physiological ligand. |
| adaptive immune response | An immune response mediated by cells expressing specific receptors for antigens produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). |
| B cell receptor signaling pathway | The series of molecular signals initiated by the cross-linking of an antigen receptor on a B cell. |
| cellular defense response | A defense response that is mediated by cells. |
| gamma-delta T cell activation | The change in morphology and behavior of a gamma-delta T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. |
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| NK T cell differentiation | The process in which a precursor cell type acquires the specialized features of a NK T cell. |
| 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. |
| positive regulation of cytokine production | Any process that activates or increases the frequency, rate or extent of production of a cytokine. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| T cell activation | The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. |
| T cell receptor signaling pathway | The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell. |
86 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A0JNB0 | FYN | Tyrosine-protein kinase Fyn | Bos taurus (Bovine) | SS |
| Q0VBZ0 | CSK | Tyrosine-protein kinase CSK | Bos taurus (Bovine) | SS |
| Q3ZC95 | BTK | Tyrosine-protein kinase | Bos taurus (Bovine) | EV SS |
| P42683 | LCK | Proto-oncogene tyrosine-protein kinase LCK | Gallus gallus (Chicken) | SS |
| P41239 | CSK | Tyrosine-protein kinase CSK | Gallus gallus (Chicken) | SS |
| P00523 | SRC | Proto-oncogene tyrosine-protein kinase Src | Gallus gallus (Chicken) | EV |
| Q02977 | YRK | Proto-oncogene tyrosine-protein kinase Yrk | Gallus gallus (Chicken) | SS |
| Q8JH64 | BTK | Tyrosine-protein kinase BTK | Gallus gallus (Chicken) | SS |
| P09324 | YES1 | Tyrosine-protein kinase Yes | Gallus gallus (Chicken) | SS |
| Q05876 | FYN | Tyrosine-protein kinase Fyn | Gallus gallus (Chicken) | SS |
| Q75R65 | JAK2 | Tyrosine-protein kinase JAK2 | Gallus gallus (Chicken) | SS |
| Q24592 | hop | Tyrosine-protein kinase hopscotch | Drosophila melanogaster (Fruit fly) | PR |
| Q9V9J3 | Src42A | Tyrosine-protein kinase Src42A | Drosophila melanogaster (Fruit fly) | SS |
| P00528 | Src64B | Tyrosine-protein kinase Src64B | Drosophila melanogaster (Fruit fly) | SS |
| P08630 | Btk | Tyrosine-protein kinase Btk | Drosophila melanogaster (Fruit fly) | SS |
| P23458 | JAK1 | Tyrosine-protein kinase JAK1 | Homo sapiens (Human) | SS |
| O60674 | JAK2 | Tyrosine-protein kinase JAK2 | Homo sapiens (Human) | EV |
| P52333 | JAK3 | Tyrosine-protein kinase JAK3 | Homo sapiens (Human) | SS |
| P29597 | TYK2 | Non-receptor tyrosine-protein kinase TYK2 | Homo sapiens (Human) | EV |
| P07947 | YES1 | Tyrosine-protein kinase Yes | Homo sapiens (Human) | SS |
| P09769 | FGR | Tyrosine-protein kinase Fgr | Homo sapiens (Human) | SS |
| P41240 | CSK | Tyrosine-protein kinase CSK | Homo sapiens (Human) | SS |
| P42680 | TEC | Tyrosine-protein kinase Tec | Homo sapiens (Human) | SS |
| P51451 | BLK | Tyrosine-protein kinase Blk | Homo sapiens (Human) | SS |
| P51813 | BMX | Cytoplasmic tyrosine-protein kinase BMX | Homo sapiens (Human) | SS |
| P43405 | SYK | Tyrosine-protein kinase SYK | Homo sapiens (Human) | EV |
| P43403 | ZAP70 | Tyrosine-protein kinase ZAP-70 | Homo sapiens (Human) | EV |
| Q13882 | PTK6 | Protein-tyrosine kinase 6 | Homo sapiens (Human) | EV |
| P07948 | LYN | Tyrosine-protein kinase Lyn | Homo sapiens (Human) | SS |
| P06241 | FYN | Tyrosine-protein kinase Fyn | Homo sapiens (Human) | SS |
| P12931 | SRC | Proto-oncogene tyrosine-protein kinase Src | Homo sapiens (Human) | EV |
| P06239 | LCK | Tyrosine-protein kinase Lck | Homo sapiens (Human) | EV |
| P08631 | HCK | Tyrosine-protein kinase HCK | Homo sapiens (Human) | EV |
| P42685 | FRK | Tyrosine-protein kinase FRK | Homo sapiens (Human) | EV |
| Q06187 | BTK | Tyrosine-protein kinase BTK | Homo sapiens (Human) | EV |
| P42679 | MATK | Megakaryocyte-associated tyrosine-protein kinase | Homo sapiens (Human) | SS |
| Q14289 | PTK2B | Protein-tyrosine kinase 2-beta | Homo sapiens (Human) | PR |
| Q05397 | PTK2 | Focal adhesion kinase 1 | Homo sapiens (Human) | EV |
| Q13470 | TNK1 | Non-receptor tyrosine-protein kinase TNK1 | Homo sapiens (Human) | PR |
| Q07912 | TNK2 | Activated CDC42 kinase 1 | Homo sapiens (Human) | EV |
| P16591 | FER | Tyrosine-protein kinase Fer | Homo sapiens (Human) | PR |
| Q6J9G0 | STYK1 | Tyrosine-protein kinase STYK1 | Homo sapiens (Human) | PR |
| P42684 | ABL2 | Tyrosine-protein kinase ABL2 | Homo sapiens (Human) | SS |
| P00519 | ABL1 | Tyrosine-protein kinase ABL1 | Homo sapiens (Human) | EV |
| Q9R117 | Tyk2 | Non-receptor tyrosine-protein kinase TYK2 | Mus musculus (Mouse) | SS |
| P08103 | Hck | Tyrosine-protein kinase HCK | Mus musculus (Mouse) | SS |
| P16277 | Blk | Tyrosine-protein kinase Blk | Mus musculus (Mouse) | SS |
| Q62270 | Srms | Tyrosine-protein kinase Srms | Mus musculus (Mouse) | SS |
| Q64434 | Ptk6 | Protein-tyrosine kinase 6 | Mus musculus (Mouse) | SS |
| P05480 | Src | Proto-oncogene tyrosine-protein kinase Src | Mus musculus (Mouse) | EV |
| P14234 | Fgr | Tyrosine-protein kinase Fgr | Mus musculus (Mouse) | SS |
| P35991 | Btk | Tyrosine-protein kinase BTK | Mus musculus (Mouse) | EV |
| P41241 | Csk | Tyrosine-protein kinase CSK | Mus musculus (Mouse) | EV |
| P25911 | Lyn | Tyrosine-protein kinase Lyn | Mus musculus (Mouse) | EV |
| Q62137 | Jak3 | Tyrosine-protein kinase JAK3 | Mus musculus (Mouse) | SS |
| Q62120 | Jak2 | Tyrosine-protein kinase JAK2 | Mus musculus (Mouse) | EV |
| P06240 | Lck | Proto-oncogene tyrosine-protein kinase LCK | Mus musculus (Mouse) | SS |
| P24604 | Tec | Tyrosine-protein kinase Tec | Mus musculus (Mouse) | SS |
| Q04736 | Yes1 | Tyrosine-protein kinase Yes | Mus musculus (Mouse) | SS |
| P39688 | Fyn | Tyrosine-protein kinase Fyn | Mus musculus (Mouse) | SS |
| P52332 | Jak1 | Tyrosine-protein kinase JAK1 | Mus musculus (Mouse) | SS |
| P41242 | Matk | Megakaryocyte-associated tyrosine-protein kinase | Mus musculus (Mouse) | SS |
| Q922K9 | Frk | Tyrosine-protein kinase FRK | Mus musculus (Mouse) | SS |
| Q03526 | Itk | Tyrosine-protein kinase ITK/TSK | Mus musculus (Mouse) | SS |
| A1Y2K1 | FYN | Tyrosine-protein kinase Fyn | Sus scrofa (Pig) | SS |
| O19064 | JAK2 | Tyrosine-protein kinase JAK2 | Sus scrofa (Pig) | SS |
| Q62662 | Frk | Tyrosine-protein kinase FRK | Rattus norvegicus (Rat) | SS |
| Q62844 | Fyn | Tyrosine-protein kinase Fyn | Rattus norvegicus (Rat) | SS |
| Q07014 | Lyn | Tyrosine-protein kinase Lyn | Rattus norvegicus (Rat) | SS |
| P50545 | Hck | Tyrosine-protein kinase HCK | Rattus norvegicus (Rat) | SS |
| Q9WUD9 | Src | Proto-oncogene tyrosine-protein kinase Src | Rattus norvegicus (Rat) | SS |
| Q01621 | Lck | Proto-oncogene tyrosine-protein kinase LCK | Rattus norvegicus (Rat) | SS |
| Q6P6U0 | Fgr | Tyrosine-protein kinase Fgr | Rattus norvegicus (Rat) | SS |
| Q62689 | Jak2 | Tyrosine-protein kinase JAK2 | Rattus norvegicus (Rat) | SS |
| Q63272 | Jak3 | Tyrosine-protein kinase JAK3 | Rattus norvegicus (Rat) | SS |
| P32577 | Csk | Tyrosine-protein kinase CSK | Rattus norvegicus (Rat) | SS |
| P41243 | Matk | Megakaryocyte-associated tyrosine-protein kinase | Rattus norvegicus (Rat) | SS |
| F1LM93 | Yes1 | Tyrosine-protein kinase Yes | Rattus norvegicus (Rat) | SS |
| O45539 | src-2 | Tyrosine protein-kinase src-2 | Caenorhabditis elegans | SS |
| G5ECJ6 | csk-1 | Tyrosine-protein kinase csk-1 | Caenorhabditis elegans | SS |
| G5EE56 | src-1 | Tyrosine protein-kinase src-1 | Caenorhabditis elegans | SS |
| A1A5H8 | yes1 | Tyrosine-protein kinase yes | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| F1RDG9 | fynb | Tyrosine-protein kinase fynb | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| O12990 | jak1 | Tyrosine-protein kinase JAK1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q1JPZ3 | src | Proto-oncogene tyrosine-protein kinase Src | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q6EWH2 | fyna | Tyrosine-protein kinase fyna | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNNFILLEEQ | LIKKSQQKRR | TSPSNFKVRF | FVLTKASLAY | FEDRHGKKRT | LKGSIELSRI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KCVEIVKSDI | SIPCHYKYPF | QVVHDNYLLY | VFAPDRESRQ | RWVLALKEET | RNNNSLVPKY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HPNFWMDGKW | RCCSQLEKLA | TGCAQYDPTK | NASKKPLPPT | PEDNRRPLWE | PEETVVIALY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DYQTNDPQEL | ALRRNEEYCL | LDSSEIHWWR | VQDRNGHEGY | VPSSYLVEKS | PNNLETYEWY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NKSISRDKAE | KLLLDTGKEG | AFMVRDSRTA | GTYTVSVFTK | AVVSENNPCI | KHYHIKETND |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NPKRYYVAEK | YVFDSIPLLI | NYHQHNGGGL | VTRLRYPVCF | GRQKAPVTAG | LRYGKWVIDP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SELTFVQEIG | SGQFGLVHLG | YWLNKDKVAI | KTIREGAMSE | EDFIEEAEVM | MKLSHPKLVQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LYGVCLEQAP | ICLVFEFMEH | GCLSDYLRTQ | RGLFAAETLL | GMCLDVCEGM | AYLEEACVIH |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RDLAARNCLV | GENQVIKVSD | FGMTRFVLDD | QYTSSTGTKF | PVKWASPEVF | SFSRYSSKSD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VWSFGVLMWE | VFSEGKIPYE | NRSNSEVVED | ISTGFRLYKP | RLASTHVYQI | MNHCWKERPE |
| 610 | |||||
| DRPAFSRLLR | QLAEIAESGL |