Q02763
Gene name |
TEK (TIE2, VMCM, VMCM1) |
Protein name |
Angiopoietin-1 receptor |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7010 |
EC number |
2.7.10.1: Protein-tyrosine kinases |
Protein Class |
|

Descriptions
TEK is an endothelial cell receptor tyrosine kinase that induces signal transduction pathways involved in cell migration upon angiopoietin-1 (Ang1) stimulation.
The juxtamembrane region (769-805) inhibits the kinase domain like other receptor tyrosine kinases. Deletion of the C-terminal tail increases the kinase activity of TEK. The end of the C-terminal tail could block access to the substrate binding site.
Unlike other RTKs, in which the activation loop (A-loop, 982-1008) obstructs substrate or ATP binding in the inactive state, the A-loop of TEK assumes an active-like conformation, which would appear to facilitate substrate binding. However, the nucleotide binding loop adopts an apparent inhibitory conformation, with the side chains of several residues in this loop occupying the ATP binding site.
Autoinhibitory domains (AIDs)
Target domain |
824-1096 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Target domain |
824-1096 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Target domain |
824-1096 (Protein kinase domain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
981-1003 (Activation loop from InterPro)
Target domain |
824-1096 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Shewchuk LM et al. (2000) "Structure of the Tie2 RTK domain: self-inhibition by the nucleotide binding loop, activation loop, and C-terminal tail", Structure (London, England : 1993), 8, 1105-13
- Niu XL et al. (2002) "Deletion of the carboxyl terminus of Tie2 enhances kinase activity, signaling, and function. Evidence for an autoinhibitory mechanism", The Journal of biological chemistry, 277, 31768-73
- Uchikawa E et al. (2019) "Activation mechanism of the insulin receptor revealed by cryo-EM structure of the fully liganded receptor-ligand complex", eLife, 8,
- Nielsen J et al. (2022) "Structural Investigations of Full-Length Insulin Receptor Dynamics and Signalling", Journal of molecular biology, 434, 167458
- Chen YS et al. (2021) "Insertion of a synthetic switch into insulin provides metabolite-dependent regulation of hormone-receptor activation", Proceedings of the National Academy of Sciences of the United States of America, 118,
- Craddock BP et al. (2007) "Autoinhibition of the insulin-like growth factor I receptor by the juxtamembrane region", FEBS letters, 581, 3235-40
- Huang X et al. (2009) "Structural insights into the inhibited states of the Mer receptor tyrosine kinase", Journal of structural biology, 165, 88-96
Autoinhibited structure

Activated structure

17 structures for Q02763
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
1FVR | X-ray | 220 A | A/B | 808-1124 | PDB |
2GY5 | X-ray | 290 A | A | 23-445 | PDB |
2GY7 | X-ray | 370 A | B | 23-445 | PDB |
2OO8 | X-ray | 220 A | X | 808-1124 | PDB |
2OSC | X-ray | 280 A | A | 808-1124 | PDB |
2P4I | X-ray | 250 A | A/B | 808-1124 | PDB |
2WQB | X-ray | 295 A | A | 802-1124 | PDB |
3BEA | X-ray | 202 A | A | 917-935 | PDB |
3L8P | X-ray | 240 A | A | 808-1124 | PDB |
4K0V | X-ray | 451 A | A | 23-542 | PDB |
4X3J | X-ray | 250 A | A | 802-1122 | PDB |
5MYA | X-ray | 290 A | A/B | 443-742 | PDB |
5MYB | X-ray | 260 A | A/B | 443-742 | PDB |
5UTK | X-ray | 250 A | A/B | 442-741 | PDB |
6MWE | X-ray | 205 A | A/B | 808-1124 | PDB |
7E72 | X-ray | 209 A | E/F | 541-735 | PDB |
AF-Q02763-F1 | Predicted | AlphaFoldDB |
772 variants for Q02763
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
RCV001167530 rs146485295 CA5015809 |
4 | L>F | Multiple cutaneous and mucosal venous malformations [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
RCV001167531 CA5015870 rs764880845 |
89 | K>N | Multiple cutaneous and mucosal venous malformations [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
rs572527340 RCV001514048 CA5015873 RCV000389443 |
103 | E>D | Multiple cutaneous and mucosal venous malformations [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
RCV000415600 CA16043930 rs753021890 |
150 | E>* | Glaucoma 3, primary congenital, E [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
RCV001168161 rs752000002 CA5015941 |
162 | I>F | Multiple cutaneous and mucosal venous malformations [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
RCV000991222 rs1587545234 CA373123325 |
193 | Y>C | Glaucoma 3, primary congenital, E [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
VAR_041856 CA5015983 rs35814893 RCV000292023 |
226 | A>V | Multiple cutaneous and mucosal venous malformations [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs138708761 RCV001168163 CA5016019 |
259 | T>M | Multiple cutaneous and mucosal venous malformations [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
CA5016039 rs146169480 VAR_078047 RCV001168164 |
294 | K>N | Multiple cutaneous and mucosal venous malformations GLC3E; unknown pathological significance; 10-fold decrease of Tyr-1102 phosphorylation; no effect on membrane location [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
CA16043929 RCV000415569 rs541217363 |
307 | Y>* | Glaucoma 3, primary congenital, E [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
RCV001198609 rs752184169 CA5016069 |
308 | G>R | Glaucoma 3, primary congenital, E [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
RCV001166087 rs1824476725 |
363 | S>G | Multiple cutaneous and mucosal venous malformations [ClinVar] | Yes |
ClinVar dbSNP |
VAR_048003 RCV000391730 rs34032300 CA5016136 |
391 | T>I | Multiple cutaneous and mucosal venous malformations [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
CA5016164 rs573051752 RCV001168304 |
400 | H>R | Multiple cutaneous and mucosal venous malformations [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
RCV000756770 rs189543659 CA5016199 RCV001168306 |
438 | N>S | Multiple cutaneous and mucosal venous malformations [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs200857533 CA5016224 RCV000378512 |
463 | I>V | Multiple cutaneous and mucosal venous malformations [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
rs746069957 CA5016225 RCV000284143 |
464 | N>H | Multiple cutaneous and mucosal venous malformations [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
RCV000375749 CA5016280 RCV002058795 rs138894008 |
522 | R>L | Multiple cutaneous and mucosal venous malformations [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV000336197 rs780560474 CA10633362 |
565 | P>R | Multiple cutaneous and mucosal venous malformations [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
CA5016326 RCV000296318 rs35030851 RCV001653762 VAR_041857 |
600 | V>L | Multiple cutaneous and mucosal venous malformations [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs1306527531 VAR_078048 CA373113665 |
611 | Y>C | GLC3E; reduced response to ligand; loss of ligand-induced phosphorylation; no effect on basal membrane location [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
rs764571511 RCV000351251 CA5016336 |
612 | V>M | Multiple cutaneous and mucosal venous malformations [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
rs1825075746 RCV001168373 |
629 | L>F | Multiple cutaneous and mucosal venous malformations [ClinVar] | Yes |
ClinVar dbSNP |
RCV001000606 CA5016345 RCV000311560 VAR_041858 rs35378598 |
634 | L>F | Multiple cutaneous and mucosal venous malformations [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs886063822 COSM129654 CA10629859 RCV000404627 |
658 | S>Y | upper_aerodigestive_tract Multiple cutaneous and mucosal venous malformations [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
RCV001169122 rs1825275848 |
709 | Q>K | Multiple cutaneous and mucosal venous malformations [ClinVar] | Yes |
ClinVar dbSNP |
RCV001166201 rs767813511 CA5016447 |
743 | G>R | Multiple cutaneous and mucosal venous malformations [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
rs777012163 RCV000359712 CA10629860 |
815 | I>T | Multiple cutaneous and mucosal venous malformations [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
rs376225163 CA5016511 RCV001253976 |
849 | R>Q | Multiple cutaneous and mucosal venous malformations [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
CA340900 rs80338908 COSM1228889 VAR_006352 |
849 | R>W | VMCM; increased ligand-independent autophosphorylation and kinase activation; no effect on location at membrane large_intestine [UniProt, Cosmic] | Yes |
ClinGen cosmic curated UniProt TOPMed dbSNP gnomAD |
RCV001265074 rs1825511679 |
893 | E>V | Multiple cutaneous and mucosal venous malformations [ClinVar] | Yes |
ClinVar dbSNP |
RCV001327971 rs80338909 RCV000022955 VAR_066606 CA259741 RCV000756767 |
897 | Y>C | VMCM; increased ligand-independent autophosphorylation and kinase activation Multiple cutaneous and mucosal venous malformations [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
VAR_008716 CA340902 rs80338909 RCV000009877 |
897 | Y>S | VMCM; also found in a patient with solitary sporadic venous malformations; increased ligand-independent autophosphorylation and kinase activation Multiple cutaneous and mucosal venous malformations [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
RCV001327973 rs1825682849 RCV001799752 |
914 | L>F | Bockenheimer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
rs387906745 VAR_066607 CA259743 RCV000022956 |
915 | R>H | Multiple cutaneous and mucosal venous malformations VMCM; strongly increased ligand-independent autophosphorylation and kinase activation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
RCV001196199 CA5016579 rs138463877 |
925 | A>T | Glaucoma 3, primary congenital, E [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
rs143080429 CA5016593 RCV001166700 |
943 | H>Y | Multiple cutaneous and mucosal venous malformations [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
rs1564115375 RCV000778880 |
1085 | F>missing | Multiple cutaneous and mucosal venous malformations [ClinVar] | Yes |
ClinVar dbSNP |
RCV000680123 rs1564116253 CA373131413 |
1116 | I>T | Multiple cutaneous and mucosal venous malformations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
CA191324959 rs977092623 |
2 | D>E | No |
ClinGen TOPMed gnomAD |
|
CA373118392 rs1167183814 |
5 | A>G | No |
ClinGen TOPMed |
|
COSM455790 rs745710118 COSM1489915 CA5015810 |
9 | L>F | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1156587696 CA373118485 |
9 | L>P | No |
ClinGen gnomAD |
|
rs769386115 CA5015811 |
10 | C>Y | No |
ClinGen ExAC gnomAD |
|
CA373118515 rs1253878620 |
12 | V>I | No |
ClinGen gnomAD |
|
rs201171013 CA5015812 |
13 | S>I | No |
ClinGen ExAC gnomAD |
|
rs1158070915 CA373118557 |
14 | L>W | No |
ClinGen gnomAD |
|
rs1564028920 CA373118585 |
16 | L>F | No |
ClinGen Ensembl |
|
rs149096702 CA5015813 |
17 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA373118604 rs149096702 |
17 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs143178677 CA5015827 |
20 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5015826 rs202051322 |
20 | V>M | No |
ClinGen ExAC gnomAD |
|
rs1332564163 CA373118152 |
22 | G>C | No |
ClinGen TOPMed |
|
rs1416661592 CA373118223 |
27 | I>T | No |
ClinGen TOPMed |
|
rs757194893 CA5015829 |
28 | L>W | No |
ClinGen ExAC gnomAD |
|
CA5015833 rs779625499 |
34 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA191314651 rs779625499 |
34 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754655302 CA5015835 |
35 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373118423 rs1195201762 |
36 | S>C | No |
ClinGen gnomAD |
|
CA373118514 rs1587530870 |
39 | E>V | No |
ClinGen Ensembl |
|
rs932882162 CA191314673 |
40 | T>I | No |
ClinGen TOPMed gnomAD |
|
CA5015836 rs778457323 |
41 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1564066061 CA373118611 |
42 | L>V | No |
ClinGen Ensembl |
|
CA5015839 rs777314139 |
46 | A>T | No |
ClinGen ExAC gnomAD |
|
CA5015840 rs200755526 |
46 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs998969484 CA191314693 |
47 | S>C | No |
ClinGen TOPMed |
|
rs775700953 CA5015843 |
50 | R>C | No |
ClinGen ExAC gnomAD |
|
CA5015844 COSM277643 rs764269402 |
50 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA5015846 rs140406342 |
51 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5015848 rs750372594 |
52 | H>R | No |
ClinGen ExAC gnomAD |
|
rs1564066113 CA373118778 |
52 | H>Y | No |
ClinGen Ensembl |
|
CA5015849 rs763083737 |
53 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766158671 CA5015850 |
54 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5015851 rs753618196 |
54 | P>H | No |
ClinGen ExAC gnomAD |
|
CA373118806 rs766158671 |
54 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5015852 rs754637849 |
55 | I>M | No |
ClinGen ExAC gnomAD |
|
CA373118826 rs1228700109 |
56 | T>I | No |
ClinGen TOPMed gnomAD |
|
CA5015853 rs778455109 |
56 | T>P | No |
ClinGen ExAC gnomAD |
|
rs769044139 CA191314755 |
57 | I>V | No |
ClinGen TOPMed |
|
CA373118835 rs1272264375 |
58 | G>R | No |
ClinGen gnomAD |
|
rs747657032 CA5015854 |
59 | R>W | No |
ClinGen ExAC gnomAD |
|
rs1053247340 CA191314765 |
60 | D>Y | No |
ClinGen TOPMed |
|
CA5015855 rs369048700 |
63 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
rs1282805932 CA373118868 |
63 | A>T | No |
ClinGen TOPMed |
|
CA5015857 rs746368893 |
65 | M>I | No |
ClinGen ExAC gnomAD |
|
CA373118883 rs1190326490 |
65 | M>T | No |
ClinGen gnomAD |
|
CA5015856 rs373772509 |
65 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5015858 rs770461384 |
66 | N>S | No |
ClinGen ExAC gnomAD |
|
CA373118895 rs1164319547 |
67 | Q>E | No |
ClinGen gnomAD |
|
CA5015859 rs775899168 |
69 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA5015860 rs749635911 |
70 | D>G | No |
ClinGen ExAC gnomAD |
|
CA5015861 rs144348052 |
71 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1445190259 CA373118937 |
73 | E>A | No |
ClinGen TOPMed |
|
CA5015863 rs761822823 |
75 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1316259184 CA373118957 |
76 | Q>R | No |
ClinGen gnomAD |
|
CA5015865 rs146302981 |
78 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs575190843 CA5015864 |
78 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1332500045 CA373118977 |
79 | T>S | No |
ClinGen gnomAD |
|
rs766278026 CA5015867 |
82 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1349425817 CA373119013 |
84 | K>I | No |
ClinGen gnomAD |
|
COSM1237950 COSM1237951 CA373119027 rs1257598929 |
85 | K>N | thyroid [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs753623288 CA5015868 |
85 | K>R | No |
ClinGen ExAC gnomAD |
|
CA5015869 rs759283621 |
86 | V>I | No |
ClinGen ExAC gnomAD |
|
rs758187604 CA5015872 |
91 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1554691653 RCV000599209 CA658797190 |
91 | E>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
CA373119155 rs1364627600 |
93 | A>S | No |
ClinGen gnomAD |
|
CA5015874 rs751162215 |
105 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760650172 CA191314887 |
106 | V>I | No |
ClinGen TOPMed gnomAD |
|
CA5015875 rs370256501 |
107 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1236479837 CA373119502 |
109 | E>Q | No |
ClinGen gnomAD |
|
rs563802185 CA191314913 |
109 | E>V | No |
ClinGen Ensembl |
|
CA5015877 rs749598237 |
111 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768915163 CA373119616 |
113 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768915163 CA5015878 |
113 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1302331916 CA373119626 |
114 | R>* | No |
ClinGen gnomAD |
|
CA5015879 rs760573137 |
114 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5015880 rs201999962 |
116 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1484952425 CA373119755 |
118 | M>T | No |
ClinGen gnomAD |
|
rs772321726 CA5015881 |
119 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773256013 CA5015882 COSM1624887 COSM1624886 |
119 | R>H | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA191314959 rs940125132 |
121 | Q>E | No |
ClinGen Ensembl |
|
CA373122410 rs1340549276 |
123 | S>F | No |
ClinGen TOPMed |
|
CA5015907 rs776834033 |
125 | L>I | No |
ClinGen ExAC gnomAD |
|
CA5015911 rs539107517 |
127 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5015910 rs539107517 |
127 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5015914 rs201071647 |
130 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1490436976 CA373122453 |
131 | M>V | No |
ClinGen TOPMed gnomAD |
|
CA191323518 rs1003139562 |
135 | K>Q | No |
ClinGen TOPMed |
|
CA191323523 COSM136703 COSM136704 rs868349346 |
137 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
rs1213348161 CA373122501 |
138 | N>D | No |
ClinGen gnomAD |
|
rs1466318448 CA373122519 |
140 | N>I | No |
ClinGen gnomAD |
|
CA373122528 rs1410657220 |
141 | I>M | No |
ClinGen TOPMed |
|
CA373122529 rs568787338 |
142 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5015917 rs568787338 |
142 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1260992609 CA373122546 |
144 | K>R | No |
ClinGen gnomAD |
|
rs894186550 CA191323533 |
146 | V>L | No |
ClinGen Ensembl |
|
rs35969327 VAR_041855 CA5015918 |
148 | I>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5015919 rs753021890 |
150 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1175513951 CA373122608 |
153 | A>P | No |
ClinGen gnomAD |
|
rs1315371549 CA373122726 |
159 | G>D | No |
ClinGen TOPMed gnomAD |
|
rs1315371549 CA373122729 |
159 | G>V | No |
ClinGen TOPMed gnomAD |
|
rs757369820 CA5015942 |
162 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373122897 rs1224579622 |
167 | R>G | No |
ClinGen gnomAD |
|
CA5015945 rs573385848 |
167 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA191324061 rs1050993601 |
168 | H>R | No |
ClinGen TOPMed |
|
COSM1700999 CA191324088 rs866968099 COSM1700998 |
169 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
CA191324102 rs891063377 |
172 | D>H | No |
ClinGen TOPMed gnomAD |
|
CA5015947 rs749232854 |
173 | I>N | No |
ClinGen ExAC gnomAD |
|
CA373123111 rs1188288779 |
177 | H>N | No |
ClinGen TOPMed |
|
rs1485283183 CA373123116 |
177 | H>P | No |
ClinGen gnomAD |
|
rs1482491209 CA373123123 |
178 | L>M | No |
ClinGen TOPMed |
|
CA191324106 rs991526480 |
183 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA373123239 rs1176335288 |
186 | A>S | No |
ClinGen gnomAD |
|
rs778829843 CA5015949 |
190 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373123301 rs1376615443 |
191 | A>D | No |
ClinGen gnomAD |
|
CA373123304 rs1376615443 |
191 | A>V | No |
ClinGen gnomAD |
|
rs1224499253 CA373123379 |
197 | N>S | No |
ClinGen gnomAD |
|
CA373123393 rs1434692077 |
198 | L>H | No |
ClinGen gnomAD |
|
rs1564073304 CA373123388 |
198 | L>I | No |
ClinGen Ensembl |
|
CA5015951 rs540914328 |
201 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA373123425 rs1231966439 |
201 | S>T | No |
ClinGen TOPMed |
|
rs776194252 CA5015955 |
205 | R>G | No |
ClinGen ExAC gnomAD |
|
rs751826780 CA5015958 |
208 | V>I | No |
ClinGen ExAC gnomAD |
|
rs775884054 COSM95318 CA191324161 |
209 | R>Q | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
CA5015959 rs762239847 |
209 | R>W | No |
ClinGen ExAC gnomAD |
|
rs757042677 CA5015980 |
210 | R>S | No |
ClinGen ExAC gnomAD |
|
rs1397738049 CA373124212 |
215 | K>R | No |
ClinGen TOPMed |
|
CA191325704 rs778827548 |
217 | G>E | No |
ClinGen Ensembl |
|
rs1320313686 CA373124260 |
218 | P>S | No |
ClinGen gnomAD |
|
rs993639918 CA191325708 |
221 | N>K | No |
ClinGen TOPMed |
|
rs144378392 CA5015982 |
222 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA373124399 rs1268337363 |
225 | T>I | No |
ClinGen gnomAD |
|
rs374382893 CA373124422 |
228 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs374382893 CA5015986 |
228 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5015985 rs758337448 |
228 | M>V | No |
ClinGen ExAC gnomAD |
|
rs746860160 CA373124474 |
234 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746860160 CA373124476 |
234 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746860160 CA5015987 |
234 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373124497 rs910332944 |
236 | D>N | No |
ClinGen TOPMed gnomAD |
|
rs910332944 CA191325733 |
236 | D>Y | No |
ClinGen TOPMed gnomAD |
|
rs1189042559 CA373124589 |
241 | I>T | No |
ClinGen gnomAD |
|
rs1824004002 RCV001200496 |
243 | P>L | No |
ClinVar dbSNP |
|
rs745322448 CA5015990 |
245 | G>E | No |
ClinGen ExAC gnomAD |
|
rs1046808932 CA191325747 |
247 | M>T | No |
ClinGen Ensembl |
|
CA5015991 rs769331590 |
249 | R>G | No |
ClinGen ExAC gnomAD |
|
CA5015992 rs774928388 |
250 | T>M | No |
ClinGen ExAC gnomAD |
|
rs367963556 CA191325761 |
252 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
rs1236280412 CA373125042 |
256 | E>D | No |
ClinGen gnomAD |
|
CA373125101 rs138708761 |
259 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs775578346 CA5016022 |
263 | T>A | No |
ClinGen ExAC gnomAD |
|
rs774361560 CA191326048 |
267 | R>M | No |
ClinGen Ensembl |
|
CA5016024 rs764047256 |
269 | S>I | No |
ClinGen ExAC gnomAD |
|
rs372307879 CA5016025 |
270 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5016026 rs757228426 |
271 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs1172998434 CA373125410 |
272 | E>K | No |
ClinGen gnomAD |
|
CA373125443 rs1364054872 |
273 | G>E | No |
ClinGen TOPMed |
|
rs1289366546 CA373125473 |
274 | C>* | No |
ClinGen TOPMed |
|
rs767297984 CA5016027 |
277 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767297984 CA373125539 |
277 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs572299128 CA5016029 |
279 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs753348341 CA5016031 |
280 | C>Y | No |
ClinGen ExAC gnomAD |
|
rs1439442871 CA373125687 |
285 | Y>C | No |
ClinGen gnomAD |
|
rs778613365 CA5016033 |
286 | G>R | No |
ClinGen ExAC gnomAD |
|
rs1230096564 CA373125827 |
290 | A>G | No |
ClinGen gnomAD |
|
CA5016036 rs781677642 |
294 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5016037 rs781677642 |
294 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5016038 rs770021561 |
294 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373125958 rs1430287098 |
296 | L>V | No |
ClinGen gnomAD |
|
rs768693441 CA5016041 |
299 | N>D | No |
ClinGen ExAC gnomAD |
|
CA373126081 rs1372354897 |
299 | N>I | No |
ClinGen TOPMed gnomAD |
|
CA373126083 rs1372354897 |
299 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA191326101 rs867378828 |
300 | E>K | No |
ClinGen gnomAD |
|
CA373128525 rs1564080006 |
303 | H>R | No |
ClinGen Ensembl |
|
rs760714202 CA5016064 |
304 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5016065 rs533028014 |
304 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs760714202 CA373128546 |
304 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1483032110 CA373128747 |
312 | K>E | No |
ClinGen gnomAD |
|
rs1196633186 CA373128792 |
314 | R>G | No |
ClinGen TOPMed |
|
rs763749051 CA5016071 |
314 | R>S | No |
ClinGen ExAC gnomAD |
|
CA373128844 rs1157685615 |
316 | S>T | No |
ClinGen TOPMed gnomAD |
|
COSM3745957 COSM3745958 CA373128888 rs1269117894 |
318 | N>D | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
CA5016072 rs559473908 |
318 | N>S | No |
ClinGen ExAC gnomAD |
|
rs944559197 CA191329749 |
319 | N>D | No |
ClinGen gnomAD |
|
rs756713430 CA5016073 |
319 | N>S | No |
ClinGen ExAC gnomAD |
|
CA373128965 rs1301321963 |
321 | E>K | No |
ClinGen gnomAD |
|
CA5016075 rs749678742 |
322 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755127644 CA5016076 |
325 | R>C | No |
ClinGen ExAC gnomAD |
|
CA373129077 COSM1107968 rs1286718039 |
325 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
rs748176673 CA5016078 |
333 | P>R | No |
ClinGen ExAC gnomAD |
|
CA373129258 rs1225402185 |
333 | P>S | No |
ClinGen TOPMed |
|
CA373129265 rs1236494921 |
334 | G>R | No |
ClinGen gnomAD |
|
CA5016079 rs772115655 |
336 | Q>P | No |
ClinGen ExAC gnomAD |
|
rs1485231950 CA373129315 |
337 | G>A | No |
ClinGen gnomAD |
|
rs1324583954 CA373129308 |
337 | G>R | No |
ClinGen TOPMed |
|
rs1234286915 CA373129336 |
339 | Q>R | No |
ClinGen gnomAD |
|
rs776229235 CA373129377 |
341 | E>D | No |
ClinGen ExAC gnomAD |
|
CA5016084 rs373027386 |
342 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
rs373027386 CA5016085 |
342 | R>T | No |
ClinGen ESP ExAC gnomAD |
|
rs753116146 CA5016112 |
346 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5016114 rs682632 |
346 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
VAR_048002 rs682632 CA5016113 |
346 | Q>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs682632 CA373129747 |
346 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5016116 rs200235356 |
347 | R>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5016117 rs781173340 |
348 | M>I | No |
ClinGen ExAC gnomAD |
|
CA373129770 rs1418374590 |
348 | M>V | No |
ClinGen TOPMed |
|
rs1370820069 CA373129785 |
349 | T>A | No |
ClinGen gnomAD |
|
rs1478357889 CA373129791 |
349 | T>S | No |
ClinGen gnomAD |
|
CA5016118 rs745799653 |
351 | K>N | No |
ClinGen ExAC gnomAD |
|
rs558150627 CA191331635 |
351 | K>R | No |
ClinGen gnomAD |
|
rs769912564 CA5016119 |
352 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373129843 rs1587563955 |
354 | D>N | No |
ClinGen Ensembl |
|
CA191331640 rs898517468 |
356 | P>T | No |
ClinGen Ensembl |
|
CA373129916 rs1403618103 |
358 | H>R | No |
ClinGen gnomAD |
|
CA5016120 rs779939521 |
358 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA5016121 rs749100650 |
359 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5016122 rs372811397 |
359 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA373129928 rs749100650 |
359 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5016124 rs541940165 |
363 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA5016125 rs771578973 |
368 | P>L | No |
ClinGen ExAC TOPMed |
|
CA373130150 rs771578973 |
368 | P>R | No |
ClinGen ExAC TOPMed |
|
rs868328598 CA191331664 |
368 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs1025520252 CA191331698 |
369 | I>S | No |
ClinGen Ensembl |
|
rs1286994139 CA373130161 |
369 | I>V | No |
ClinGen gnomAD |
|
CA373130186 rs1488875745 |
370 | C>F | No |
ClinGen gnomAD |
|
rs527402232 CA5016128 |
372 | A>T | No |
ClinGen 1000Genomes ExAC |
|
rs752991071 CA5016129 |
372 | A>V | No |
ClinGen ExAC gnomAD |
|
COSM290852 CA373130330 rs1368043969 |
377 | L>P | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA5016133 rs368494167 |
379 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1160319844 CA373130349 |
380 | N>D | No |
ClinGen gnomAD |
|
CA373130351 rs1408779439 |
380 | N>S | No |
ClinGen gnomAD |
|
CA373130355 rs1296261695 |
381 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs146464819 CA191331736 |
382 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA373130388 rs1329480679 |
385 | L>P | No |
ClinGen TOPMed |
|
rs979217618 CA191331761 |
388 | P>L | No |
ClinGen gnomAD |
|
rs979217618 CA373130407 |
388 | P>Q | No |
ClinGen gnomAD |
|
rs1442085234 CA373130414 |
389 | D>V | No |
ClinGen gnomAD |
|
CA373130411 rs1276566506 |
389 | D>Y | No |
ClinGen gnomAD |
|
CA191331768 rs1039895878 |
392 | V>E | No |
ClinGen TOPMed |
|
CA373130437 rs780173078 |
393 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373130440 rs1482245810 |
393 | L>R | No |
ClinGen gnomAD |
|
rs780173078 CA5016137 |
393 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373130464 rs1310047403 |
395 | P>Q | No |
ClinGen TOPMed |
|
rs1254840237 CA373130475 |
397 | D>N | No |
ClinGen gnomAD |
|
rs770402439 CA5016162 |
397 | D>V | No |
ClinGen ExAC gnomAD |
|
rs1254840237 CA373130477 |
397 | D>Y | No |
ClinGen gnomAD |
|
CA373130498 rs1233592203 |
400 | H>Y | No |
ClinGen TOPMed |
|
rs769059911 CA5016165 |
401 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762117974 CA5016167 |
403 | H>L | No |
ClinGen ExAC gnomAD |
|
CA5016170 rs761019104 |
406 | V>L | No |
ClinGen ExAC gnomAD |
|
CA5016174 rs765089230 |
410 | T>A | No |
ClinGen ExAC gnomAD |
|
CA373130577 rs1229985406 |
411 | I>S | No |
ClinGen gnomAD |
|
CA373130581 rs1279116842 |
412 | H>Y | No |
ClinGen gnomAD |
|
CA5016176 rs534867466 |
413 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA373130593 rs1196960973 |
413 | R>Q | No |
ClinGen gnomAD |
|
rs534867466 RCV000756766 CA5016175 |
413 | R>W | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs369394656 CA5016177 RCV000594522 |
414 | I>L | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA373130608 rs1417765647 |
415 | L>F | No |
ClinGen TOPMed |
|
CA5016179 rs149712446 |
417 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1303503826 CA373130647 |
417 | P>R | No |
ClinGen gnomAD |
|
rs149712446 CA373130638 |
417 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs149712446 CA5016180 |
417 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs149842646 CA191332659 |
420 | G>R | No |
ClinGen Ensembl |
|
rs995858394 CA191332665 |
423 | V>F | No |
ClinGen TOPMed gnomAD |
|
rs774742672 CA5016183 |
425 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373130810 rs1476656901 |
425 | S>R | No |
ClinGen TOPMed gnomAD |
|
CA373130843 rs1564083581 |
427 | N>T | No |
ClinGen Ensembl |
|
CA5016185 rs772536310 |
430 | A>S | No |
ClinGen ExAC gnomAD |
|
CA373130901 rs1489568835 |
430 | A>V | No |
ClinGen TOPMed |
|
rs1293462439 CA373130908 |
431 | G>R | No |
ClinGen gnomAD |
|
CA5016189 rs75365911 |
432 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5016190 rs776705446 |
432 | M>R | No |
ClinGen ExAC gnomAD |
|
CA5016188 rs75365911 |
432 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759561940 CA5016191 |
433 | V>G | No |
ClinGen ExAC gnomAD |
|
rs765169315 CA5016192 |
434 | E>G | No |
ClinGen ExAC |
|
CA5016194 rs372461928 |
435 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5016193 rs372461928 |
435 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA191332695 rs148891712 |
436 | P>A | No |
ClinGen ESP TOPMed |
|
CA5016196 rs751371541 |
436 | P>L | No |
ClinGen ExAC gnomAD |
|
CA191332697 rs148891712 |
436 | P>S | No |
ClinGen ESP TOPMed |
|
rs780743521 CA373131036 |
437 | F>L | No |
ClinGen ExAC gnomAD |
|
CA5016197 rs756840280 |
437 | F>S | No |
ClinGen ExAC gnomAD |
|
CA5016200 rs755557875 |
439 | I>T | No |
ClinGen ExAC gnomAD |
|
CA373131076 rs1217204389 |
440 | S>F | No |
ClinGen gnomAD |
|
CA373131072 rs1217204389 |
440 | S>Y | No |
ClinGen gnomAD |
|
rs1262284788 CA373131084 |
441 | V>G | No |
ClinGen gnomAD |
|
rs779657608 CA5016201 |
442 | K>E | No |
ClinGen ExAC gnomAD |
|
CA5016202 rs748662110 |
443 | V>I | No |
ClinGen ExAC gnomAD |
|
CA373131599 rs1426305167 |
444 | L>F | No |
ClinGen Ensembl |
|
rs753410363 CA5016219 |
447 | P>S | No |
ClinGen ExAC gnomAD |
|
CA5016220 rs149684174 |
449 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5016221 rs45607336 |
452 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
COSM1107975 COSM1107974 CA5016223 rs373235916 |
453 | V>M | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs1220853156 CA373131733 |
454 | I>T | No |
ClinGen TOPMed gnomAD |
|
rs1311385307 CA373131764 |
457 | G>V | No |
ClinGen gnomAD |
|
CA191334269 rs1023592101 |
458 | H>P | No |
ClinGen TOPMed gnomAD |
|
rs1227294393 CA373131825 |
462 | V>L | No |
ClinGen TOPMed |
|
rs746069957 CA373131837 |
464 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5016226 rs770072224 |
466 | S>G | No |
ClinGen ExAC gnomAD |
|
rs775484004 CA5016227 |
467 | S>C | No |
ClinGen ExAC gnomAD |
|
CA373131867 rs1193419868 |
468 | E>G | No |
ClinGen gnomAD |
|
rs1426379249 CA373131875 |
469 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs1431625003 CA373131896 |
472 | G>A | No |
ClinGen gnomAD |
|
rs578107670 CA191334290 |
476 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5016230 rs578107670 |
476 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1330823411 CA373131924 |
477 | K>E | No |
ClinGen gnomAD |
|
CA373131923 rs1330823411 |
477 | K>Q | No |
ClinGen gnomAD |
|
CA5016231 rs761850097 |
478 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5016232 rs141586254 |
479 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA191334306 rs147057883 |
481 | L>F | No |
ClinGen ESP TOPMed |
|
CA373131957 rs1275357194 |
482 | L>V | No |
ClinGen gnomAD |
|
CA373131962 rs1159159226 |
483 | Y>H | No |
ClinGen TOPMed |
|
CA373131977 rs1217201158 |
485 | P>S | No |
ClinGen gnomAD |
|
rs1197581101 CA373131986 |
486 | V>A | No |
ClinGen gnomAD |
|
rs1197581101 CA373131987 |
486 | V>G | No |
ClinGen gnomAD |
|
CA5016235 VAR_024578 rs1334811 |
486 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs941983896 CA191334319 |
487 | N>Y | No |
ClinGen TOPMed gnomAD |
|
CA5016236 rs753357357 |
489 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764885666 CA5016238 |
490 | E>A | No |
ClinGen ExAC gnomAD |
|
rs1564086813 CA373132010 |
490 | E>K | No |
ClinGen Ensembl |
|
rs1189792557 CA373132019 |
491 | A>S | No |
ClinGen gnomAD |
|
CA373132028 rs1463435290 |
492 | W>L | No |
ClinGen TOPMed |
|
CA5016240 rs757847270 |
493 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA5016239 rs752077973 |
493 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs1448053519 CA373132047 |
495 | I>F | No |
ClinGen TOPMed gnomAD |
|
rs562870152 CA191334333 |
496 | Q>E | No |
ClinGen Ensembl |
|
rs1205194428 CA373132056 |
496 | Q>R | No |
ClinGen TOPMed |
|
rs1217375894 CA373132061 |
497 | V>L | No |
ClinGen TOPMed gnomAD |
|
CA191287503 rs888785247 |
499 | N>H | No |
ClinGen Ensembl |
|
CA373111228 rs1156663575 |
500 | E>D | No |
ClinGen gnomAD |
|
CA5016263 rs754055188 |
502 | V>I | No |
ClinGen ExAC gnomAD |
|
CA5016265 rs200574110 |
503 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs748262199 CA5016266 |
503 | T>I | No |
ClinGen ExAC gnomAD |
|
rs748262199 CA5016268 |
503 | T>K | No |
ClinGen ExAC gnomAD |
|
CA5016267 rs748262199 |
503 | T>R | No |
ClinGen ExAC gnomAD |
|
rs973683738 CA191287562 |
505 | N>H | No |
ClinGen TOPMed gnomAD |
|
CA373111286 rs1240033514 |
505 | N>K | No |
ClinGen TOPMed gnomAD |
|
rs1240033514 CA373111285 |
505 | N>K | No |
ClinGen TOPMed gnomAD |
|
CA373111277 rs973683738 |
505 | N>Y | No |
ClinGen TOPMed gnomAD |
|
CA5016270 rs770814923 |
509 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373111334 rs770814923 |
509 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373111329 rs770814923 |
509 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776631444 CA5016271 |
510 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1464003209 CA373111361 |
510 | R>W | No |
ClinGen gnomAD |
|
rs769580471 CA373111394 |
511 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5016273 rs769580471 |
511 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769580471 CA373111391 |
511 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1586994566 CA373111417 |
512 | E>A | No |
ClinGen Ensembl |
|
CA5016274 rs774826137 |
513 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA191287645 rs150236410 |
516 | C>F | No |
ClinGen ESP ExAC gnomAD |
|
CA5016276 rs150236410 |
516 | C>Y | No |
ClinGen ESP ExAC gnomAD |
|
CA373111500 rs1478200447 |
517 | V>M | No |
ClinGen TOPMed gnomAD |
|
CA5016278 rs761238130 |
520 | V>L | No |
ClinGen ExAC gnomAD |
|
CA373111584 rs1403394649 |
521 | R>C | No |
ClinGen gnomAD |
|
rs766717660 CA5016279 |
521 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1331501009 CA373111595 COSM136706 COSM136705 |
522 | R>C | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs138894008 CA5016281 |
522 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1241289440 CA373111626 |
523 | G>R | No |
ClinGen TOPMed |
|
rs752669279 CA5016283 |
524 | E>K | No |
ClinGen ExAC gnomAD |
|
rs758481469 CA5016284 |
525 | G>A | No |
ClinGen ExAC gnomAD |
|
rs1186603557 CA373111662 |
525 | G>R | No |
ClinGen gnomAD |
|
rs758481469 CA373111670 |
525 | G>V | No |
ClinGen ExAC gnomAD |
|
CA5016286 rs746958138 |
526 | G>R | No |
ClinGen ExAC gnomAD |
|
CA191287716 rs879044076 |
527 | E>Q | No |
ClinGen Ensembl |
|
rs367917552 CA191287721 |
528 | G>W | No |
ClinGen ESP |
|
rs781074237 CA5016288 |
530 | P>L | No |
ClinGen ExAC gnomAD |
|
CA373111777 rs1443704227 |
531 | G>A | No |
ClinGen TOPMed |
|
CA5016289 COSM1107985 rs539332352 COSM1107986 |
535 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs769524871 CA5016290 COSM247782 |
535 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA373111872 rs1426916828 |
536 | F>L | No |
ClinGen gnomAD |
|
rs1380805303 CA373111889 |
537 | T>A | No |
ClinGen TOPMed |
|
CA373111918 rs1387415583 |
539 | A>V | No |
ClinGen TOPMed |
|
rs1478623945 CA373111934 |
540 | S>F | No |
ClinGen gnomAD |
|
CA5016291 rs201629688 |
541 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5016293 COSM1461869 rs768209145 COSM1461870 |
542 | G>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA373111953 COSM1461869 rs768209145 COSM1461870 |
542 | G>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs963330863 CA191292057 |
544 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA373112709 rs1198721013 |
547 | R>S | No |
ClinGen TOPMed |
|
rs1439398603 CA373112730 |
548 | G>D | No |
ClinGen gnomAD |
|
rs1380005385 CA373112745 |
550 | N>H | No |
ClinGen TOPMed gnomAD |
|
rs1312855889 CA373112810 |
553 | P>S | No |
ClinGen gnomAD |
|
rs1379082172 CA373112840 |
555 | S>N | No |
ClinGen gnomAD |
|
CA373112878 rs1587001241 |
556 | Q>H | No |
ClinGen Ensembl |
|
CA373112885 rs1240743213 |
557 | T>N | No |
ClinGen gnomAD |
|
rs1283376594 CA373112900 |
559 | L>I | No |
ClinGen TOPMed gnomAD |
|
CA373112901 rs1283376594 |
559 | L>V | No |
ClinGen TOPMed gnomAD |
|
CA373112921 rs35357088 |
560 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1211813067 CA373112914 |
560 | N>S | No |
ClinGen gnomAD |
|
rs1340307338 CA373112943 |
562 | T>I | No |
ClinGen TOPMed |
|
CA373112965 rs1251038300 |
564 | Q>L | No |
ClinGen gnomAD |
|
rs1587001298 CA373113012 |
568 | P>L | No |
ClinGen Ensembl |
|
rs190513747 CA191292128 |
569 | S>T | No |
ClinGen 1000Genomes TOPMed |
|
rs771377363 CA5016313 COSM3433085 COSM3433084 |
570 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA373113036 rs1239447063 |
570 | S>P | No |
ClinGen gnomAD |
|
rs954227920 CA191292137 |
571 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs1417648283 CA373113082 |
573 | D>Y | No |
ClinGen gnomAD |
|
rs760075260 CA5016315 |
575 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA191292169 rs867018293 |
580 | R>K | No |
ClinGen Ensembl |
|
CA373113238 rs1402541491 |
582 | S>P | No |
ClinGen gnomAD |
|
rs1447497076 CA373113293 |
585 | K>N | No |
ClinGen gnomAD |
|
CA5016318 rs763173969 |
586 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373113304 rs1463371511 |
586 | S>T | No |
ClinGen Ensembl |
|
CA5016319 rs373551083 |
587 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs748343404 CA191292197 |
587 | D>N | No |
ClinGen gnomAD |
|
rs1322459100 CA373113372 |
591 | I>V | No |
ClinGen gnomAD |
|
rs751643260 CA5016320 |
593 | V>I | No |
ClinGen ExAC gnomAD |
|
rs757393856 CA5016321 |
594 | P>A | No |
ClinGen ExAC gnomAD |
|
rs767748648 CA5016322 |
594 | P>Q | No |
ClinGen ExAC gnomAD |
|
rs757393856 CA373113411 |
594 | P>T | No |
ClinGen ExAC gnomAD |
|
rs1003721502 CA191292232 |
596 | N>K | No |
ClinGen Ensembl |
|
CA5016324 rs756064806 |
599 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA191292336 rs914823043 |
600 | V>A | No |
ClinGen TOPMed gnomAD |
|
CA5016327 rs35030851 |
600 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5016329 rs747845143 |
604 | N>T | No |
ClinGen ExAC gnomAD |
|
CA5016331 rs376770384 |
606 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5016332 rs376770384 |
606 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5016330 rs771538956 |
606 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA191292386 rs980201141 |
609 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs980201141 CA373113618 |
609 | E>Q | No |
ClinGen TOPMed gnomAD |
|
rs762196494 CA5016338 COSM1107991 COSM1107992 |
614 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA5016340 rs750544688 |
615 | A>T | No |
ClinGen ExAC gnomAD |
|
CA373113769 rs927503138 |
619 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs927503138 CA191292449 |
619 | T>S | No |
ClinGen TOPMed gnomAD |
|
CA373113783 rs1302771890 |
620 | K>N | No |
ClinGen gnomAD |
|
CA373113772 rs1406046117 |
620 | K>Q | No |
ClinGen gnomAD |
|
rs760595005 CA5016341 |
621 | A>S | No |
ClinGen ExAC gnomAD |
|
rs760595005 CA373113785 |
621 | A>T | No |
ClinGen ExAC gnomAD |
|
CA5016343 rs753621515 |
622 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1165171292 CA373113810 |
622 | Q>R | No |
ClinGen TOPMed |
|
CA373113883 rs1394233793 |
626 | S>R | No |
ClinGen Ensembl |
|
rs1181437010 CA373113890 |
627 | E>K | No |
ClinGen TOPMed |
|
CA373113958 rs1265557781 |
631 | A>S | No |
ClinGen gnomAD |
|
rs867429615 CA191292482 |
632 | W>* | No |
ClinGen Ensembl |
|
rs1587001662 CA373113984 |
633 | T>P | No |
ClinGen Ensembl |
|
rs779357479 CA373114870 |
638 | L>F | No |
ClinGen ExAC gnomAD |
|
CA5016373 rs779357479 |
638 | L>V | No |
ClinGen ExAC gnomAD |
|
CA191297433 rs977561226 |
639 | P>H | No |
ClinGen Ensembl |
|
rs772374479 CA5016375 |
640 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1382751796 CA373114960 |
642 | P>A | No |
ClinGen TOPMed gnomAD |
|
CA373114959 rs1382751796 |
642 | P>T | No |
ClinGen TOPMed gnomAD |
|
CA5016376 rs773286289 |
644 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1373898272 COSM184309 COSM3848288 CA373115123 |
646 | K>N | large_intestine breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1311993136 CA373115106 |
646 | K>R | No |
ClinGen gnomAD |
|
rs1351843336 CA373115145 |
647 | I>T | No |
ClinGen gnomAD |
|
CA373115174 rs1431839307 |
648 | S>A | No |
ClinGen gnomAD |
|
rs1204774906 CA373115178 |
648 | S>F | No |
ClinGen gnomAD |
|
rs760995397 CA5016377 |
649 | N>D | No |
ClinGen ExAC gnomAD |
|
rs960097042 CA191297495 |
650 | I>T | No |
ClinGen Ensembl |
|
rs1442774267 CA373115293 |
651 | T>I | No |
ClinGen gnomAD |
|
rs776825926 CA5016379 |
652 | H>L | No |
ClinGen ExAC gnomAD |
|
COSM1228892 rs759328878 CA5016380 |
654 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA373115376 rs1403854529 |
655 | A>S | No |
ClinGen gnomAD |
|
rs915911279 CA191297516 |
656 | V>M | No |
ClinGen TOPMed |
|
rs775224047 CA5016382 |
657 | I>V | No |
ClinGen ExAC |
|
rs1470335918 CA373115475 |
659 | W>G | No |
ClinGen TOPMed |
|
CA5016384 rs555832316 |
660 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA5016385 rs751169842 |
663 | D>N | No |
ClinGen ExAC gnomAD |
|
rs1166371609 CA373115750 |
668 | S>Y | No |
ClinGen TOPMed |
|
CA373115797 rs1333874645 |
670 | I>L | No |
ClinGen gnomAD |
|
CA373115844 rs1476478574 |
671 | T>I | No |
ClinGen TOPMed |
|
rs766880665 CA5016387 |
672 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5016388 rs749958421 |
673 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5016389 COSM1554766 rs772637203 COSM1554767 |
673 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA5016390 rs779589176 |
675 | K>Q | No |
ClinGen ExAC gnomAD |
|
rs56367117 CA191297598 VAR_041859 |
676 | V>I | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
rs56367117 CA373115951 |
676 | V>L | No |
ClinGen TOPMed gnomAD |
|
CA373115967 rs748717101 |
677 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5016391 rs748717101 |
677 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758802336 CA5016392 |
678 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1459986467 CA373116029 |
679 | K>N | No |
ClinGen gnomAD |
|
CA373116044 rs1200471425 |
680 | N>D | No |
ClinGen gnomAD |
|
rs1251094590 CA373116060 |
680 | N>K | No |
ClinGen gnomAD |
|
CA5016393 rs112475919 |
682 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA5016394 rs112475919 |
682 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA5016395 rs771194504 |
683 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373116153 rs771194504 |
683 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs35818764 CA373116203 |
684 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA191297672 rs35818764 |
684 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1379131208 CA373116168 |
684 | H>Y | No |
ClinGen TOPMed gnomAD |
|
CA5016397 rs745978641 |
685 | V>I | No |
ClinGen ExAC gnomAD |
|
CA191297730 rs1057067878 |
686 | D>G | No |
ClinGen TOPMed |
|
rs1453924397 CA373116311 |
688 | K>M | No |
ClinGen TOPMed |
|
rs769669218 CA5016398 |
689 | I>M | No |
ClinGen ExAC gnomAD |
|
rs775381887 CA5016399 |
693 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5016400 rs141769154 RCV000497383 |
693 | T>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs774209662 CA5016402 |
694 | I>M | No |
ClinGen ExAC gnomAD |
|
CA373116483 rs1327344153 |
695 | T>I | No |
ClinGen gnomAD |
|
CA373116699 rs1564095215 |
703 | E>D | No |
ClinGen Ensembl |
|
rs1168331105 CA373116717 |
704 | P>L | No |
ClinGen TOPMed |
|
rs749855784 CA5016405 |
704 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs866200806 CA191297777 |
705 | E>K | No |
ClinGen Ensembl |
|
CA5016406 rs755666325 |
708 | Y>H | No |
ClinGen ExAC gnomAD |
|
CA373116860 rs1251934221 |
710 | V>A | No |
ClinGen gnomAD |
|
rs1220504722 CA373116850 |
710 | V>M | No |
ClinGen gnomAD |
|
rs1338723356 CA373116939 |
714 | A>V | No |
ClinGen gnomAD |
|
CA191297818 rs764976128 |
715 | E>D | No |
ClinGen gnomAD |
|
CA373117021 rs1198254073 |
718 | I>M | No |
ClinGen gnomAD |
|
rs753249243 CA5016408 |
719 | G>R | No |
ClinGen ExAC gnomAD |
|
CA191297834 rs1010947710 |
721 | S>R | No |
ClinGen Ensembl |
|
rs759976151 CA5016409 |
722 | N>S | No |
ClinGen ExAC gnomAD |
|
rs747400050 CA5016411 |
723 | P>S | No |
ClinGen ExAC gnomAD |
|
rs4631561 VAR_041860 CA5016412 |
724 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA373117182 rs1367866328 |
726 | S>F | No |
ClinGen gnomAD |
|
CA191297903 rs996007909 |
727 | H>P | No |
ClinGen TOPMed |
|
CA5016413 rs373793318 |
727 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
rs1343917388 CA373117244 |
730 | V>L | No |
ClinGen gnomAD |
|
CA5016415 rs769832160 |
732 | L>V | No |
ClinGen ExAC gnomAD |
|
rs564379441 CA5016416 |
736 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed |
|
rs771889665 CA5016439 |
738 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771889665 CA373118032 |
738 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373118034 rs1421190789 |
739 | A>P | No |
ClinGen gnomAD |
|
rs561507573 CA5016440 |
739 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs759108843 CA5016443 |
740 | D>E | No |
ClinGen ExAC gnomAD |
|
rs776237947 CA5016442 |
740 | D>Y | No |
ClinGen ExAC gnomAD |
|
CA5016446 rs181093425 |
742 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA5016445 rs141520692 COSM1643804 COSM1643805 |
742 | G>R | stomach [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA5016449 rs202131936 |
743 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5016451 rs202131936 |
743 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA373118054 rs767813511 |
743 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5016450 rs202131936 |
743 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5016448 rs767813511 |
743 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs923057858 CA191299948 |
744 | G>E | No |
ClinGen TOPMed gnomAD |
|
rs752502743 CA5016454 |
745 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5016455 rs771913589 |
747 | L>P | No |
ClinGen ExAC gnomAD |
|
rs1350083768 CA373118097 |
749 | I>M | No |
ClinGen TOPMed |
|
rs1307247439 CA373118101 |
750 | A>T | No |
ClinGen TOPMed |
|
CA373118105 rs1407763523 |
750 | A>V | No |
ClinGen TOPMed |
|
rs45510599 CA5016456 |
752 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746826748 CA5016457 |
754 | S>C | No |
ClinGen ExAC gnomAD |
|
rs1308575431 CA373118191 |
757 | M>T | No |
ClinGen TOPMed |
|
CA373118226 rs1178178451 |
759 | C>F | No |
ClinGen gnomAD |
|
CA373118221 rs1178178451 |
759 | C>S | No |
ClinGen gnomAD |
|
rs1411046304 CA373118246 |
761 | T>S | No |
ClinGen TOPMed |
|
CA5016458 rs770657714 |
762 | V>A | No |
ClinGen ExAC gnomAD |
|
CA373118258 rs1417614132 |
763 | L>M | No |
ClinGen TOPMed gnomAD |
|
rs550587484 CA5016459 |
765 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA5016460 rs370492416 |
768 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373118400 rs1174230775 |
769 | I>T | No |
ClinGen gnomAD |
|
CA5016461 rs145334606 |
769 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA191300094 rs555137213 |
777 | V>E | No |
ClinGen 1000Genomes |
|
rs149152469 CA5016465 |
779 | R>G | No |
ClinGen ESP ExAC |
|
rs1283461881 CA373118703 |
781 | M>V | No |
ClinGen gnomAD |
|
CA373118753 rs1322241171 |
784 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA373118805 rs1340991331 |
788 | V>A | No |
ClinGen Ensembl |
|
rs374265341 CA191300107 |
788 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
rs374265341 CA191300110 |
788 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
CA5016485 rs201024056 |
789 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs759734452 CA5016486 |
789 | R>K | No |
ClinGen ExAC gnomAD |
|
CA373119586 rs759734452 |
789 | R>M | No |
ClinGen ExAC gnomAD |
|
rs201024056 CA5016484 |
789 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs765405804 CA5016487 |
790 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA191301897 rs899733222 |
791 | E>D | No |
ClinGen TOPMed gnomAD |
|
CA373119692 rs1164027603 |
794 | V>G | No |
ClinGen TOPMed gnomAD |
|
rs752769971 CA5016488 |
794 | V>M | No |
ClinGen ExAC gnomAD |
|
CA5016489 rs758529426 |
795 | Q>P | No |
ClinGen ExAC gnomAD |
|
rs1422430410 CA373119727 |
796 | F>S | No |
ClinGen gnomAD |
|
CA191301919 rs143314314 |
797 | N>S | No |
ClinGen ESP |
|
rs1391746633 CA373119786 |
798 | S>L | No |
ClinGen gnomAD |
|
rs1311026554 CA373119762 |
798 | S>T | No |
ClinGen TOPMed |
|
CA5016490 rs764309451 |
799 | G>V | No |
ClinGen ExAC gnomAD |
|
rs751536503 CA5016491 |
800 | T>P | No |
ClinGen ExAC gnomAD |
|
CA5016494 rs745683853 |
804 | N>I | No |
ClinGen ExAC gnomAD |
|
CA373119929 rs1587013983 |
804 | N>K | No |
ClinGen Ensembl |
|
rs1375573130 CA373119942 |
806 | K>E | No |
ClinGen TOPMed |
|
CA373119961 rs1316256258 |
806 | K>R | No |
ClinGen gnomAD |
|
rs749014021 CA5016497 |
807 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5016496 rs779551623 |
807 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768154983 CA5016498 |
808 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778454536 CA5016499 |
809 | N>S | No |
ClinGen ExAC gnomAD |
|
CA373120057 rs747459353 |
811 | P>S | No |
ClinGen ExAC gnomAD |
|
CA5016500 rs747459353 |
811 | P>T | No |
ClinGen ExAC gnomAD |
|
CA373120094 rs1193383157 |
812 | D>E | No |
ClinGen TOPMed |
|
CA5016502 rs777012163 |
815 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs546234201 CA5016501 |
815 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA373120266 rs1226699871 |
818 | V>L | No |
ClinGen gnomAD |
|
CA191302008 rs1030030598 |
820 | D>H | No |
ClinGen TOPMed gnomAD |
|
rs928209019 CA191302013 |
822 | N>D | No |
ClinGen TOPMed |
|
CA373120495 rs1442482528 |
825 | K>R | No |
ClinGen TOPMed gnomAD |
|
rs532313466 CA373120589 |
828 | D>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5016504 rs532313466 |
828 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs775542431 CA5016505 |
830 | I>V | No |
ClinGen ExAC gnomAD |
|
rs980242485 CA191302043 |
832 | E>D | No |
ClinGen Ensembl |
|
rs764254208 CA5016507 |
841 | A>V | No |
ClinGen ExAC gnomAD |
|
COSM3413574 CA5016509 COSM3413573 rs147231791 |
842 | R>C | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs200750146 CA5016510 |
842 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA373120905 rs200750146 |
842 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA373120930 rs1291186227 |
844 | K>R | No |
ClinGen TOPMed |
|
CA191302093 rs779255150 |
846 | D>N | No |
ClinGen gnomAD |
|
rs927009197 CA191302101 |
847 | G>V | No |
ClinGen Ensembl |
|
rs755835455 CA5016512 |
856 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA191302138 rs373458643 |
858 | K>R | No |
ClinGen Ensembl |
|
CA5016539 rs746347646 |
860 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs780498000 CA5016541 |
862 | S>C | No |
ClinGen ExAC gnomAD |
|
CA5016542 rs749694269 |
865 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769193766 CA5016543 |
866 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748449440 CA5016545 |
870 | A>V | No |
ClinGen ExAC gnomAD |
|
rs773360033 CA5016547 |
874 | E>* | No |
ClinGen ExAC |
|
CA191304613 rs978999358 |
875 | V>A | No |
ClinGen TOPMed |
|
CA191304621 rs201842573 COSM3848289 COSM3848290 |
881 | H>Y | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes |
CA373122104 COSM20663 VAR_041861 rs1490428165 |
883 | P>A | ovary an ovarian serous carcinoma sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt TOPMed dbSNP gnomAD |
CA373122108 rs1221271188 |
883 | P>L | No |
ClinGen gnomAD |
|
rs1490428165 CA373122105 |
883 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs1264655347 CA373122111 |
884 | N>H | No |
ClinGen gnomAD |
|
CA373122118 rs1195979036 |
885 | I>V | No |
ClinGen gnomAD |
|
CA5016549 rs766367343 |
886 | I>N | No |
ClinGen ExAC gnomAD |
|
CA5016548 rs760465316 |
886 | I>V | No |
ClinGen ExAC gnomAD |
|
rs776358378 CA5016550 |
887 | N>S | No |
ClinGen ExAC |
|
CA373122169 rs1564099624 |
893 | E>K | No |
ClinGen Ensembl |
|
rs1425543527 CA373122185 |
895 | R>G | No |
ClinGen gnomAD |
|
rs765053701 CA5016552 |
895 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373122687 rs1587026471 |
899 | Y>S | No |
ClinGen Ensembl |
|
CA5016573 rs763838582 |
902 | I>M | No |
ClinGen ExAC gnomAD |
|
CA191308689 rs527539252 |
902 | I>T | No |
ClinGen Ensembl |
|
rs1259635917 CA373122797 |
906 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA191308693 rs763860066 |
907 | H>R | No |
ClinGen TOPMed gnomAD |
|
rs1368396917 CA373122838 |
908 | G>A | No |
ClinGen gnomAD |
|
rs1825683100 RCV001327972 |
918 | R>C | No |
ClinVar dbSNP |
|
CA373123039 RCV001706660 rs1554701458 RCV000519290 RCV001327974 |
918 | R>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
rs754385594 CA5016577 |
922 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1291636206 CA373123150 |
925 | A>V | No |
ClinGen TOPMed |
|
rs1455660810 CA373123207 |
929 | A>V | No |
ClinGen gnomAD |
|
CA373123234 rs1587026588 |
932 | T>P | No |
ClinGen Ensembl |
|
rs1307510192 CA373123247 COSM184310 |
933 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
rs199701926 CA191308815 |
933 | A>V | No |
ClinGen Ensembl |
|
rs775106474 CA5016588 |
936 | L>V | No |
ClinGen ExAC gnomAD |
|
rs774050237 CA5016591 |
939 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA5016595 rs760084463 |
945 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765871870 CA5016596 |
946 | A>T | No |
ClinGen ExAC gnomAD |
|
rs906836493 CA191308899 |
947 | D>N | No |
ClinGen TOPMed |
|
CA5016599 rs559941890 |
948 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA373123441 COSM1228893 rs1178015088 |
948 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs751789573 CA5016600 |
949 | A>V | No |
ClinGen ExAC gnomAD |
|
CA5016601 rs376285577 |
950 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA373123463 rs1201741867 |
950 | R>W | No |
ClinGen gnomAD |
|
CA373123519 rs1173801085 |
954 | Y>H | No |
ClinGen gnomAD |
|
rs1356088614 CA373123552 |
957 | Q>E | No |
ClinGen gnomAD |
|
rs776014609 CA5016631 |
972 | V>A | No |
ClinGen ExAC gnomAD |
|
rs763449420 CA5016632 |
973 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373123700 rs1388103911 |
973 | G>C | No |
ClinGen gnomAD |
|
rs763449420 CA191309868 |
973 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764539097 CA5016633 |
974 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1427762794 CA373123725 |
976 | Y>C | No |
ClinGen TOPMed |
|
rs547805462 CA373123745 |
978 | A>P | No |
ClinGen 1000Genomes TOPMed |
|
CA191309894 rs547805462 |
978 | A>S | No |
ClinGen 1000Genomes TOPMed |
|
rs746131741 CA191309902 |
978 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA5016634 rs774649395 |
981 | A>T | No |
ClinGen ExAC gnomAD |
|
rs867553064 CA191309915 |
987 | R>* | No |
ClinGen Ensembl |
|
rs940964074 CA191309920 |
988 | G>D | No |
ClinGen TOPMed gnomAD |
|
rs940964074 CA373123876 |
988 | G>V | No |
ClinGen TOPMed gnomAD |
|
CA191309945 rs370591821 |
997 | M>I | No |
ClinGen ESP |
|
rs778698155 CA5016642 |
997 | M>T | No |
ClinGen ExAC gnomAD |
|
rs200011475 CA5016641 |
997 | M>V | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
CA5016672 rs748589440 |
1002 | V>A | No |
ClinGen ExAC gnomAD |
|
rs1564105728 CA373126016 |
1002 | V>L | No |
ClinGen Ensembl |
|
COSM2154292 rs772600804 COSM2154291 CA5016673 |
1003 | R>C | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs773518368 CA5016674 COSM3788251 COSM3788250 |
1003 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA373126052 rs773518368 |
1003 | R>L | No |
ClinGen ExAC gnomAD |
|
CA5016675 rs368457184 |
1007 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA373126148 rs1409424508 |
1008 | E>K | No |
ClinGen gnomAD |
|
rs1042628209 CA191314767 |
1011 | N>S | No |
ClinGen TOPMed |
|
CA373126410 rs1347397840 |
1016 | T>A | No |
ClinGen gnomAD |
|
CA373126417 rs1233910639 |
1016 | T>I | No |
ClinGen gnomAD |
|
CA5016677 rs776718341 |
1017 | T>P | No |
ClinGen ExAC gnomAD |
|
rs775661158 CA373127327 |
1024 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775661158 CA5016710 |
1024 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373127444 rs1167066833 |
1033 | S>N | No |
ClinGen gnomAD |
|
CA373127649 rs1473681158 |
1036 | G>D | No |
ClinGen gnomAD |
|
CA373127679 rs1471571855 |
1039 | Y>* | No |
ClinGen gnomAD |
|
rs780622660 CA5016751 |
1041 | G>R | No |
ClinGen ExAC gnomAD |
|
rs955187413 CA191318066 |
1042 | M>I | No |
ClinGen Ensembl |
|
CA5016754 rs778810650 |
1043 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373127775 rs748239410 |
1046 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5016755 rs748239410 |
1046 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5016756 rs772087232 |
1048 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA373127858 rs1313264330 |
1049 | E>D | No |
ClinGen gnomAD |
|
rs1313264330 CA373127861 |
1049 | E>D | No |
ClinGen gnomAD |
|
rs760667841 CA5016758 |
1049 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5016761 rs201502264 |
1053 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5016763 rs757635191 |
1057 | L>H | No |
ClinGen ExAC |
|
rs768746682 CA191318123 |
1057 | L>R | No |
ClinGen Ensembl |
|
CA191318145 rs910961031 |
1061 | L>R | No |
ClinGen TOPMed gnomAD |
|
rs1180979541 CA373128164 |
1064 | D>H | No |
ClinGen TOPMed |
|
CA5016766 rs762495403 |
1066 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763579590 CA5016767 |
1067 | V>M | No |
ClinGen ExAC gnomAD |
|
CA5016795 rs779199653 |
1068 | Y>N | No |
ClinGen ExAC gnomAD |
|
CA5016796 rs752902883 |
1070 | L>I | No |
ClinGen ExAC gnomAD |
|
rs550879968 CA5016797 |
1071 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1320314975 CA373130713 |
1072 | R>K | No |
ClinGen TOPMed gnomAD |
|
CA5016799 rs747117388 |
1075 | W>C | No |
ClinGen ExAC gnomAD |
|
rs1450494405 CA373130782 |
1075 | W>L | No |
ClinGen gnomAD |
|
rs536255448 CA5016801 |
1076 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5016800 rs757379347 COSM375912 |
1076 | R>W | lung endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1183802346 CA373130818 |
1077 | E>G | No |
ClinGen TOPMed |
|
rs745861773 CA5016802 |
1079 | P>A | No |
ClinGen ExAC gnomAD |
|
rs745861773 CA5016803 |
1079 | P>S | No |
ClinGen ExAC gnomAD |
|
rs775161615 CA373130873 |
1080 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs1207956745 CA373130867 |
1080 | Y>H | No |
ClinGen gnomAD |
|
CA5016804 rs775161615 |
1080 | Y>S | No |
ClinGen ExAC gnomAD |
|
CA373130900 rs1236576738 |
1081 | E>D | No |
ClinGen gnomAD |
|
rs1443880196 CA373130886 |
1081 | E>K | No |
ClinGen gnomAD |
|
rs1210421879 CA373130894 |
1081 | E>V | No |
ClinGen gnomAD |
|
CA373130956 rs1483739145 |
1085 | F>V | No |
ClinGen TOPMed |
|
CA5016806 rs548612956 |
1088 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA5016805 rs748930375 |
1088 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747798649 CA191333665 |
1089 | L>F | No |
ClinGen Ensembl |
|
rs774194740 CA5016807 |
1090 | V>L | No |
ClinGen ExAC gnomAD |
|
rs774194740 CA373131040 |
1090 | V>M | No |
ClinGen ExAC gnomAD |
|
rs1564115424 CA373131059 |
1091 | S>C | No |
ClinGen Ensembl |
|
CA373131087 rs1010364099 |
1093 | N>K | No |
ClinGen TOPMed gnomAD |
|
rs1386891182 CA373131095 |
1094 | R>I | No |
ClinGen gnomAD |
|
CA5016809 rs767200674 |
1095 | M>K | No |
ClinGen ExAC |
|
CA373131122 rs1587063954 |
1096 | L>S | No |
ClinGen Ensembl |
|
rs377406447 CA191333677 |
1097 | E>D | No |
ClinGen Ensembl |
|
rs1826418572 RCV001327975 |
1099 | R>* | No |
ClinVar dbSNP |
|
rs759970580 CA373131144 |
1099 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5016811 rs759970580 |
1099 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759946610 CA5016829 |
1101 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373131239 rs1252785127 |
1102 | Y>H | No |
ClinGen gnomAD |
|
CA373131277 rs1391070636 |
1104 | N>I | No |
ClinGen TOPMed gnomAD |
|
rs751768682 CA5016833 COSM43022 COSM2150485 |
1106 | T>M | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1826462356 RCV001327976 |
1108 | Y>* | No |
ClinVar dbSNP |
|
CA5016836 rs750490158 |
1108 | Y>F | No |
ClinGen ExAC gnomAD |
|
rs756265363 COSM95321 CA5016837 |
1109 | E>D | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA5016838 rs779823718 |
1110 | K>R | No |
ClinGen ExAC gnomAD |
|
rs753878707 CA5016839 |
1112 | T>A | No |
ClinGen ExAC gnomAD |
|
CA373131398 rs1587065866 |
1114 | A>P | No |
ClinGen Ensembl |
|
RCV001327977 rs1826463406 |
1115 | G>* | No |
ClinVar dbSNP |
|
rs1364520799 CA373131406 |
1115 | G>E | No |
ClinGen TOPMed |
|
COSM1648129 COSM753698 rs1298050036 CA373131417 |
1117 | D>H | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA5016840 rs754804694 |
1118 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5016842 rs747733324 |
1120 | A>V | No |
ClinGen ExAC gnomAD |
|
rs369356295 CA191334224 |
1123 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
rs775859042 CA5016847 |
1124 | A>D | No |
ClinGen ExAC gnomAD |
No associated diseases with Q02763
6 regional properties for Q02763
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Protein kinase domain | 98 - 366 | IPR000719 |
domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 98 - 357 | IPR001245 |
domain | SH3 domain | 16 - 81 | IPR001452 |
active_site | Serine/threonine-protein kinase, active site | 218 - 230 | IPR008271 |
binding_site | Protein kinase, ATP binding site | 104 - 125 | IPR017441 |
domain | MLK1-3, SH3 domain | 20 - 76 | IPR035779 |
Functions
Description | ||
---|---|---|
EC Number | 2.7.10.1 | Protein-tyrosine kinases |
Subcellular Localization |
|
|
PANTHER Family | ||
PANTHER Subfamily | ||
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
14 GO annotations of cellular component
Name | Definition |
---|---|
apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
basal plasma membrane | The region of the plasma membrane located at the basal end of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
cell surface | The external part of the cell wall and/or plasma membrane. |
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. |
centriolar satellite | A small (70-100 nm) cytoplasmic granule that contains a number of centrosomal proteins; centriolar satellites traffic toward microtubule minus ends and are enriched near the centrosome. |
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
membrane raft | Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. |
microvillus | Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
receptor complex | Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
7 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
identical protein binding | Binding to an identical protein or proteins. |
protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
protein serine/threonine/tyrosine kinase activity | Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
protein tyrosine kinase activity | Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
signaling receptor activity | Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. |
transmembrane receptor protein tyrosine kinase activity | Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate. |
34 GO annotations of biological process
Name | Definition |
---|---|
angiogenesis | Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. |
cell-cell signaling | Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions. |
definitive hemopoiesis | A second wave of blood cell production that, in vertebrates, generates long-term hemopoietic stem cells that continously provide erythroid, myeloid and lymphoid lineages throughout adulthood. |
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. |
glomerulus vasculature development | The biological process whose specific outcome is the progression of a glomerulus vasculature from an initial condition to its mature state. This process begins with the formation of the glomerulus vasculature and ends with the mature structure. The glomerulus vasculature is composed of the tubule structures that carry blood or lymph in the glomerulus. |
heart development | The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. |
heart trabecula formation | The process of creating a trabecula in the heart. A trabecula is a tissue element in the form of a small beam, strut or rod. |
negative regulation of angiogenesis | Any process that stops, prevents, or reduces the frequency, rate or extent of angiogenesis. |
negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
negative regulation of endothelial cell apoptotic process | Any process that stops, prevents or reduces the frequency, rate or extent of endothelial cell apoptotic process. |
negative regulation of inflammatory response | Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response. |
peptidyl-tyrosine phosphorylation | The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine. |
positive regulation of actin cytoskeleton reorganization | Any process that activates or increases the frequency, rate or extent of actin cytoskeleton reorganization. |
positive regulation of angiogenesis | Any process that activates or increases angiogenesis. |
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 endothelial cell proliferation | Any process that activates or increases the rate or extent of endothelial cell proliferation. |
positive regulation of ERK1 and ERK2 cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
positive regulation of focal adhesion assembly | Any process that activates or increases the frequency, rate or extent of focal adhesion assembly, the establishment and maturation of focal adhesions. |
positive regulation of intracellular signal transduction | Any process that activates or increases the frequency, rate or extent of intracellular signal transduction. |
positive regulation of kinase activity | Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. |
positive regulation of MAPK cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade. |
positive regulation of phosphatidylinositol 3-kinase activity | Any process that activates or increases the frequency, rate or extent of phosphatidylinositol 3-kinase activity. |
positive regulation of phosphatidylinositol 3-kinase signaling | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade. |
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 protein phosphorylation | Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein. |
protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
regulation of endothelial cell apoptotic process | Any process that modulates the frequency, rate or extent of endothelial cell apoptotic process. |
regulation of establishment or maintenance of cell polarity | Any process that modulates the frequency, rate or extent of the specification, formation or maintenance of anisotropic intracellular organization or cell growth patterns. |
regulation of vascular permeability | Any process that modulates the extent to which blood vessels can be pervaded by fluid. |
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. |
sprouting angiogenesis | The extension of new blood vessels from existing vessels into avascular tissues, this process includes the specialization of endothelial cells into leading tip and stalk cells, proliferation and migration of the endothelial cells and cell adhesion resulting in angiogenic sprout fusion or lumen formation. |
substrate adhesion-dependent cell spreading | The morphogenetic process that results in flattening of a cell as a consequence of its adhesion to a substrate. |
Tie signaling pathway | The series of molecular signals initiated by an angiopoietin binding to the Tie receptor, 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. |
118 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
P43481 | KIT | Mast/stem cell growth factor receptor Kit | Bos taurus (Bovine) | SS |
Q06805 | TIE1 | Tyrosine-protein kinase receptor Tie-1 | Bos taurus (Bovine) | PR |
Q06807 | TEK | Angiopoietin-1 receptor | Bos taurus (Bovine) | SS |
Q28889 | KIT | Mast/stem cell growth factor receptor Kit | Felis catus (Cat) (Felis silvestris catus) | SS |
P13369 | CSF1R | Macrophage colony-stimulating factor 1 receptor | Felis catus (Cat) (Felis silvestris catus) | SS |
P18460 | FGFR3 | Fibroblast growth factor receptor 3 | Gallus gallus (Chicken) | SS |
P21804 | FGFR1 | Fibroblast growth factor receptor 1 | Gallus gallus (Chicken) | SS |
Q9PUF6 | PDGFRA | Platelet-derived growth factor receptor alpha | Gallus gallus (Chicken) | SS |
Q08156 | KIT | Mast/stem cell growth factor receptor Kit | Gallus gallus (Chicken) | SS |
Q8QHL3 | FLT1 | Vascular endothelial growth factor receptor 1 | Gallus gallus (Chicken) | SS |
P18461 | FGFR2 | Fibroblast growth factor receptor 2 | Gallus gallus (Chicken) | SS |
Q07407 | htl | Fibroblast growth factor receptor homolog 1 | Drosophila melanogaster (Fruit fly) | PR |
Q6J9G0 | STYK1 | Tyrosine-protein kinase STYK1 | Homo sapiens (Human) | PR |
P07949 | RET | Proto-oncogene tyrosine-protein kinase receptor Ret | Homo sapiens (Human) | EV |
O15146 | MUSK | Muscle, skeletal receptor tyrosine-protein kinase | Homo sapiens (Human) | EV |
Q01974 | ROR2 | Tyrosine-protein kinase transmembrane receptor ROR2 | Homo sapiens (Human) | EV |
Q01973 | ROR1 | Inactive tyrosine-protein kinase transmembrane receptor ROR1 | Homo sapiens (Human) | PR |
Q16832 | DDR2 | Discoidin domain-containing receptor 2 | Homo sapiens (Human) | SS |
Q08345 | DDR1 | Epithelial discoidin domain-containing receptor 1 | Homo sapiens (Human) | EV |
Q16620 | NTRK2 | BDNF/NT-3 growth factors receptor | Homo sapiens (Human) | EV |
P04629 | NTRK1 | High affinity nerve growth factor receptor | Homo sapiens (Human) | EV |
Q16288 | NTRK3 | NT-3 growth factor receptor | Homo sapiens (Human) | SS |
P35916 | FLT4 | Vascular endothelial growth factor receptor 3 | Homo sapiens (Human) | SS |
P17948 | FLT1 | Vascular endothelial growth factor receptor 1 | Homo sapiens (Human) | SS |
P35968 | KDR | Vascular endothelial growth factor receptor 2 | Homo sapiens (Human) | EV |
P29317 | EPHA2 | Ephrin type-A receptor 2 | Homo sapiens (Human) | SS |
P21709 | EPHA1 | Ephrin type-A receptor 1 | Homo sapiens (Human) | SS |
P54760 | EPHB4 | Ephrin type-B receptor 4 | Homo sapiens (Human) | SS |
P29376 | LTK | Leukocyte tyrosine kinase receptor | Homo sapiens (Human) | SS |
Q9UM73 | ALK | ALK tyrosine kinase receptor | Homo sapiens (Human) | EV |
P08922 | ROS1 | Proto-oncogene tyrosine-protein kinase ROS | Homo sapiens (Human) | SS |
P14616 | INSRR | Insulin receptor-related protein | Homo sapiens (Human) | SS |
P08069 | IGF1R | Insulin-like growth factor 1 receptor | Homo sapiens (Human) | EV |
P06213 | INSR | Insulin receptor | Homo sapiens (Human) | EV |
P11362 | FGFR1 | Fibroblast growth factor receptor 1 | Homo sapiens (Human) | EV |
P21802 | FGFR2 | Fibroblast growth factor receptor 2 | Homo sapiens (Human) | EV |
P22455 | FGFR4 | Fibroblast growth factor receptor 4 | Homo sapiens (Human) | SS |
P22607 | FGFR3 | Fibroblast growth factor receptor 3 | Homo sapiens (Human) | EV |
Q12866 | MERTK | Tyrosine-protein kinase Mer | Homo sapiens (Human) | EV |
Q04912 | MST1R | Macrophage-stimulating protein receptor | Homo sapiens (Human) | EV |
P30530 | AXL | Tyrosine-protein kinase receptor UFO | Homo sapiens (Human) | PR |
Q06418 | TYRO3 | Tyrosine-protein kinase receptor TYRO3 | Homo sapiens (Human) | SS |
P08581 | MET | Hepatocyte growth factor receptor | Homo sapiens (Human) | EV |
P04626 | ERBB2 | Receptor tyrosine-protein kinase erbB-2 | Homo sapiens (Human) | SS |
Q15303 | ERBB4 | Receptor tyrosine-protein kinase erbB-4 | Homo sapiens (Human) | SS |
P21860 | ERBB3 | Receptor tyrosine-protein kinase erbB-3 | Homo sapiens (Human) | SS |
P00533 | EGFR | Epidermal growth factor receptor | Homo sapiens (Human) | EV |
P34925 | RYK | Tyrosine-protein kinase RYK | Homo sapiens (Human) | PR |
P35590 | TIE1 | Tyrosine-protein kinase receptor Tie-1 | Homo sapiens (Human) | PR |
P10721 | KIT | Mast/stem cell growth factor receptor Kit | Homo sapiens (Human) | EV |
P09619 | PDGFRB | Platelet-derived growth factor receptor beta | Homo sapiens (Human) | EV |
P07333 | CSF1R | Macrophage colony-stimulating factor 1 receptor | Homo sapiens (Human) | SS |
P16234 | PDGFRA | Platelet-derived growth factor receptor alpha | Homo sapiens (Human) | EV |
P36888 | FLT3 | Receptor-type tyrosine-protein kinase FLT3 | Homo sapiens (Human) | EV |
Q03142 | Fgfr4 | Fibroblast growth factor receptor 4 | Mus musculus (Mouse) | PR |
P05532 | Kit | Mast/stem cell growth factor receptor Kit | Mus musculus (Mouse) | PR |
Q91V87 | Fgfrl1 | Fibroblast growth factor receptor-like 1 | Mus musculus (Mouse) | PR |
P35917 | Flt4 | Vascular endothelial growth factor receptor 3 | Mus musculus (Mouse) | SS |
P05622 | Pdgfrb | Platelet-derived growth factor receptor beta | Mus musculus (Mouse) | SS |
P09581 | Csf1r | Macrophage colony-stimulating factor 1 receptor | Mus musculus (Mouse) | SS |
P35969 | Flt1 | Vascular endothelial growth factor receptor 1 | Mus musculus (Mouse) | SS |
P35546 | Ret | Proto-oncogene tyrosine-protein kinase receptor Ret | Mus musculus (Mouse) | SS |
Q00342 | Flt3 | Receptor-type tyrosine-protein kinase FLT3 | Mus musculus (Mouse) | SS |
Q6J9G1 | Styk1 | Tyrosine-protein kinase STYK1 | Mus musculus (Mouse) | PR |
P16092 | Fgfr1 | Fibroblast growth factor receptor 1 | Mus musculus (Mouse) | SS |
Q61851 | Fgfr3 | Fibroblast growth factor receptor 3 | Mus musculus (Mouse) | PR |
P35918 | Kdr | Vascular endothelial growth factor receptor 2 | Mus musculus (Mouse) | PR |
P21803 | Fgfr2 | Fibroblast growth factor receptor 2 | Mus musculus (Mouse) | SS |
P26618 | Pdgfra | Platelet-derived growth factor receptor alpha | Mus musculus (Mouse) | SS |
Q06806 | Tie1 | Tyrosine-protein kinase receptor Tie-1 | Mus musculus (Mouse) | SS |
Q02858 | Tek | Angiopoietin-1 receptor | Mus musculus (Mouse) | SS |
Q2HWD6 | KIT | Mast/stem cell growth factor receptor Kit | Sus scrofa (Pig) | SS |
Q7TQM3 | Fgfrl1 | Fibroblast growth factor receptor-like 1 | Rattus norvegicus (Rat) | PR |
P53767 | Flt1 | Vascular endothelial growth factor receptor 1 | Rattus norvegicus (Rat) | PR |
P20786 | Pdgfra | Platelet-derived growth factor receptor alpha | Rattus norvegicus (Rat) | SS |
Q91ZT1 | Flt4 | Vascular endothelial growth factor receptor 3 | Rattus norvegicus (Rat) | SS |
Q04589 | Fgfr1 | Fibroblast growth factor receptor 1 | Rattus norvegicus (Rat) | SS |
G3V9H8 | Ret | Proto-oncogene tyrosine-protein kinase receptor Ret | Rattus norvegicus (Rat) | SS |
Q498D6 | Fgfr4 | Fibroblast growth factor receptor 4 | Rattus norvegicus (Rat) | PR |
Q05030 | Pdgfrb | Platelet-derived growth factor receptor beta | Rattus norvegicus (Rat) | SS |
O08775 | Kdr | Vascular endothelial growth factor receptor 2 | Rattus norvegicus (Rat) | SS |
Q17833 | old-1 | Tyrosine-protein kinase receptor old-1 | Caenorhabditis elegans | PR |
Q19238 | F09A5.2 | Putative tyrosine-protein kinase F09A5.2 | Caenorhabditis elegans | SS |
Q10656 | egl-15 | Myoblast growth factor receptor egl-15 | Caenorhabditis elegans | PR |
P34892 | kin-16 | Receptor-like tyrosine-protein kinase kin-16 | Caenorhabditis elegans | PR |
G5ED65 | ver-1 | Protein ver-1 | Caenorhabditis elegans | PR |
Q9LPZ9 | SD113 | G-type lectin S-receptor-like serine/threonine-protein kinase SD1-13 | Arabidopsis thaliana (Mouse-ear cress) | SS |
Q9SXB5 | At1g11303 | G-type lectin S-receptor-like serine/threonine-protein kinase At1g11303 | Arabidopsis thaliana (Mouse-ear cress) | PR |
O64783 | At1g61370 | G-type lectin S-receptor-like serine/threonine-protein kinase At1g61370 | Arabidopsis thaliana (Mouse-ear cress) | SS |
Q9SY95 | At1g61550 | G-type lectin S-receptor-like serine/threonine-protein kinase At1g61550 | Arabidopsis thaliana (Mouse-ear cress) | SS |
O64782 | SD129 | G-type lectin S-receptor-like serine/threonine-protein kinase SD1-29 | Arabidopsis thaliana (Mouse-ear cress) | SS |
O64774 | At1g61460 | G-type lectin S-receptor-like serine/threonine-protein kinase At1g61460 | Arabidopsis thaliana (Mouse-ear cress) | PR |
O64778 | At1g61420 | G-type lectin S-receptor-like serine/threonine-protein kinase At1g61420 | Arabidopsis thaliana (Mouse-ear cress) | SS |
O81833 | SD11 | G-type lectin S-receptor-like serine/threonine-protein kinase SD1-1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9LW83 | CES101 | G-type lectin S-receptor-like serine/threonine-protein kinase CES101 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9SXB4 | At1g11300 | G-type lectin S-receptor-like serine/threonine-protein kinase At1g11300 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9SYA0 | At1g61500 | G-type lectin S-receptor-like serine/threonine-protein kinase At1g61500 | Arabidopsis thaliana (Mouse-ear cress) | SS |
O64770 | At1g61490 | G-type lectin S-receptor-like serine/threonine-protein kinase At1g61490 | Arabidopsis thaliana (Mouse-ear cress) | SS |
O64477 | At2g19130 | G-type lectin S-receptor-like serine/threonine-protein kinase At2g19130 | Arabidopsis thaliana (Mouse-ear cress) | SS |
O64776 | At1g61440 | G-type lectin S-receptor-like serine/threonine-protein kinase At1g61440 | Arabidopsis thaliana (Mouse-ear cress) | SS |
O64780 | At1g61400 | G-type lectin S-receptor-like serine/threonine-protein kinase At1g61400 | Arabidopsis thaliana (Mouse-ear cress) | SS |
Q8RWZ5 | SD25 | G-type lectin S-receptor-like serine/threonine-protein kinase SD2-5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q94AG2 | SERK1 | Somatic embryogenesis receptor kinase 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q3E991 | PRK6 | Pollen receptor-like kinase 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
O64793 | At1g67520 | G-type lectin S-receptor-like serine/threonine-protein kinase At1g67520 | Arabidopsis thaliana (Mouse-ear cress) | PR |
O64784 | At1g61360 | G-type lectin S-receptor-like serine/threonine-protein kinase At1g61360 | Arabidopsis thaliana (Mouse-ear cress) | SS |
Q39203 | SD22 | G-type lectin S-receptor-like serine/threonine-protein kinase SD2-2 | Arabidopsis thaliana (Mouse-ear cress) | SS |
Q9FXF2 | RKF1 | Probable LRR receptor-like serine/threonine-protein kinase RFK1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q8AXB3 | kdrl | Vascular endothelial growth factor receptor kdr-like | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
Q5GIT4 | kdr | Vascular endothelial growth factor receptor 2 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
Q90Z00 | fgfr1a | Fibroblast growth factor receptor 1-A | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
Q8JG38 | fgfr2 | Fibroblast growth factor receptor 2 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
Q9I8N6 | csf1r | Macrophage colony-stimulating factor 1 receptor | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
Q90413 | fgfr4 | Fibroblast growth factor receptor 4 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
Q9DE49 | pdgfra | Platelet-derived growth factor receptor alpha | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
Q8JFR5 | kita | Mast/stem cell growth factor receptor kita | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
Q5MD89 | flt4 | Vascular endothelial growth factor receptor 3 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
O73791 | tek | Angiopoietin-1 receptor | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MDSLASLVLC | GVSLLLSGTV | EGAMDLILIN | SLPLVSDAET | SLTCIASGWR | PHEPITIGRD |
70 | 80 | 90 | 100 | 110 | 120 |
FEALMNQHQD | PLEVTQDVTR | EWAKKVVWKR | EKASKINGAY | FCEGRVRGEA | IRIRTMKMRQ |
130 | 140 | 150 | 160 | 170 | 180 |
QASFLPATLT | MTVDKGDNVN | ISFKKVLIKE | EDAVIYKNGS | FIHSVPRHEV | PDILEVHLPH |
190 | 200 | 210 | 220 | 230 | 240 |
AQPQDAGVYS | ARYIGGNLFT | SAFTRLIVRR | CEAQKWGPEC | NHLCTACMNN | GVCHEDTGEC |
250 | 260 | 270 | 280 | 290 | 300 |
ICPPGFMGRT | CEKACELHTF | GRTCKERCSG | QEGCKSYVFC | LPDPYGCSCA | TGWKGLQCNE |
310 | 320 | 330 | 340 | 350 | 360 |
ACHPGFYGPD | CKLRCSCNNG | EMCDRFQGCL | CSPGWQGLQC | EREGIQRMTP | KIVDLPDHIE |
370 | 380 | 390 | 400 | 410 | 420 |
VNSGKFNPIC | KASGWPLPTN | EEMTLVKPDG | TVLHPKDFNH | TDHFSVAIFT | IHRILPPDSG |
430 | 440 | 450 | 460 | 470 | 480 |
VWVCSVNTVA | GMVEKPFNIS | VKVLPKPLNA | PNVIDTGHNF | AVINISSEPY | FGDGPIKSKK |
490 | 500 | 510 | 520 | 530 | 540 |
LLYKPVNHYE | AWQHIQVTNE | IVTLNYLEPR | TEYELCVQLV | RRGEGGEGHP | GPVRRFTTAS |
550 | 560 | 570 | 580 | 590 | 600 |
IGLPPPRGLN | LLPKSQTTLN | LTWQPIFPSS | EDDFYVEVER | RSVQKSDQQN | IKVPGNLTSV |
610 | 620 | 630 | 640 | 650 | 660 |
LLNNLHPREQ | YVVRARVNTK | AQGEWSEDLT | AWTLSDILPP | QPENIKISNI | THSSAVISWT |
670 | 680 | 690 | 700 | 710 | 720 |
ILDGYSISSI | TIRYKVQGKN | EDQHVDVKIK | NATITQYQLK | GLEPETAYQV | DIFAENNIGS |
730 | 740 | 750 | 760 | 770 | 780 |
SNPAFSHELV | TLPESQAPAD | LGGGKMLLIA | ILGSAGMTCL | TVLLAFLIIL | QLKRANVQRR |
790 | 800 | 810 | 820 | 830 | 840 |
MAQAFQNVRE | EPAVQFNSGT | LALNRKVKNN | PDPTIYPVLD | WNDIKFQDVI | GEGNFGQVLK |
850 | 860 | 870 | 880 | 890 | 900 |
ARIKKDGLRM | DAAIKRMKEY | ASKDDHRDFA | GELEVLCKLG | HHPNIINLLG | ACEHRGYLYL |
910 | 920 | 930 | 940 | 950 | 960 |
AIEYAPHGNL | LDFLRKSRVL | ETDPAFAIAN | STASTLSSQQ | LLHFAADVAR | GMDYLSQKQF |
970 | 980 | 990 | 1000 | 1010 | 1020 |
IHRDLAARNI | LVGENYVAKI | ADFGLSRGQE | VYVKKTMGRL | PVRWMAIESL | NYSVYTTNSD |
1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
VWSYGVLLWE | IVSLGGTPYC | GMTCAELYEK | LPQGYRLEKP | LNCDDEVYDL | MRQCWREKPY |
1090 | 1100 | 1110 | 1120 | ||
ERPSFAQILV | SLNRMLEERK | TYVNTTLYEK | FTYAGIDCSA | EEAA |