P43403
EV
Gene name |
ZAP70 (SRK) |
Protein name |
Tyrosine-protein kinase ZAP-70 |
Names |
70 kDa zeta-chain associated protein, Syk-related tyrosine kinase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7535 |
EC number |
2.7.10.2: Protein-tyrosine kinases |
Protein Class |
TYROSINE-PROTEIN KINASE (PTHR24418) |
Descriptions
ZAP-70, a Syk family cytoplasmic protein tyrosine kinase (PTK), is required to couple the activated T-cell antigen receptor (TCR) to downstream signaling pathways. It contains two tandem SH2 domains that bind to phosphorylated TCR subunits and a C-terminal catalytic domain. The region connecting the SH2 domains with the kinase domain (interdomain B) has previously been shown to have regulatory effects on ZAP-70 function by interacting with interdomain A.
Autoinhibitory domains (AIDs)
Target domain |
338-600 (Protein kinase domain) |
Relief mechanism |
Partner binding, PTM |
Assay |
Mutagenesis experiment, Deletion assay, Structural analysis |
Target domain |
338-600 (Protein kinase domain) |
Relief mechanism |
Partner binding, PTM |
Assay |
Mutagenesis experiment, Deletion assay, Structural analysis |
Accessory elements
478-504 (Activation loop from InterPro)
Target domain |
338-600 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Brdicka T et al. (2005) "Intramolecular regulatory switch in ZAP-70: analogy with receptor tyrosine kinases", Molecular and cellular biology, 25, 4924-33
- Deindl S et al. (2007) "Structural basis for the inhibition of tyrosine kinase activity of ZAP-70", Cell, 129, 735-46
- Yan Q et al. (2013) "Structural basis for activation of ZAP-70 by phosphorylation of the SH2-kinase linker", Molecular and cellular biology, 33, 2188-201
- Bond PJ et al. (2011) "Molecular mechanism of selective recruitment of Syk kinases by the membrane antigen-receptor complex", The Journal of biological chemistry, 286, 25872-81
Autoinhibited structure
Activated structure
16 structures for P43403
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1FBV | X-ray | 290 A | B | 289-297 | PDB |
| 1M61 | X-ray | 250 A | A | 1-256 | PDB |
| 1U59 | X-ray | 230 A | A | 327-606 | PDB |
| 2CBL | X-ray | 210 A | B | 286-297 | PDB |
| 2OQ1 | X-ray | 190 A | A | 3-256 | PDB |
| 2OZO | X-ray | 260 A | A | 1-606 | PDB |
| 2Y1N | X-ray | 200 A | B/D | 286-297 | PDB |
| 3ZNI | X-ray | 221 A | B/F/J/N | 286-297 | PDB |
| 4A4B | X-ray | 279 A | B | 286-297 | PDB |
| 4A4C | X-ray | 270 A | B | 286-297 | PDB |
| 4K2R | X-ray | 300 A | A | 1-606 | PDB |
| 4XZ0 | X-ray | 200 A | A | 1-259 | PDB |
| 4XZ1 | X-ray | 280 A | A | 1-259 | PDB |
| 5O76 | X-ray | 247 A | B/D | 286-297 | PDB |
| 7SIY | X-ray | 148 A | Z | 292-296 | PDB |
| AF-P43403-F1 | Predicted | AlphaFoldDB |
500 variants for P43403
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA52553094 RCV000647918 rs1009114725 |
3 | D>H | ZAP70-Related Severe Combined Immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001139373 CA1790034 rs745420613 |
67 | G>C | Combined immunodeficiency due to ZAP70 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs113994172 RCV001852638 CA343167 RCV000032162 |
80 | P>Q | Combined immunodeficiency due to ZAP70 deficiency ZAP70-Related Severe Combined Immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001226679 rs200679671 |
87 | Y>* | ZAP70-Related Severe Combined Immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001027642 CA347790444 rs1573262398 |
95 | P>S | Combined immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs368446882 CA1790096 RCV001329566 |
147 | P>L | Autoimmune disease, multisystem, infantile-onset, 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs145955907 RCV000647922 CA1790098 |
155 | T>M | ZAP70-Related Severe Combined Immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1266171275 RCV001141988 |
156 | T>R | Combined immunodeficiency due to ZAP70 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_077137 rs199840952 RCV001853323 RCV000227350 RCV001559120 RCV000208562 CA070999 |
192 | R>W | Autoimmune disease, multisystem, infantile-onset, 2 Combined immunodeficiency ADMIO2; decreases interaction with phosphorylated CD247; decreases ZAP70 phosphorylation; no effect on subcellular localization of CD69 at the cell surface Combined immunodeficiency due to ZAP70 deficiency ZAP70-Related Severe Combined Immunodeficiency [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000706557 CA1790156 RCV000658874 rs141564129 |
207 | T>M | ZAP70-Related Severe Combined Immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001143801 rs200295650 CA1790164 |
219 | G>S | Combined immunodeficiency due to ZAP70 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM1179161 RCV001335607 rs141613906 RCV001760438 CA1790170 |
231 | T>M | Autoimmune disease, multisystem, infantile-onset, 2 prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs199502727 RCV000685456 CA1790244 |
276 | T>M | ZAP70-Related Severe Combined Immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs762428344 RCV000693510 CA1790319 |
305 | P>L | ZAP70-Related Severe Combined Immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1291553 RCV001856754 rs201386206 RCV001137244 CA1790323 |
307 | P>L | haematopoietic_and_lymphoid_tissue Combined immunodeficiency due to ZAP70 deficiency ZAP70-Related Severe Combined Immunodeficiency [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000822297 RCV000788289 CA1790330 rs200679935 |
314 | V>M | ZAP70-Related Severe Combined Immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000707711 rs201605654 CA1790336 |
327 | D>E | ZAP70-Related Severe Combined Immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA347800584 rs1254428002 VAR_065623 |
337 | L>R | IMD48 [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
RCV000596304 rs142702703 CA1790343 RCV000405371 RCV000548850 |
342 | I>T | Combined immunodeficiency due to ZAP70 deficiency ZAP70-Related Severe Combined Immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_077138 rs869025224 RCV001559121 CA352138 RCV000233631 RCV000208547 |
360 | R>P | Autoimmune disease, multisystem, infantile-onset, 2 ADMIO2; no effect on interaction with phosphorylated CD247; increases TCR-induced Y-319 and Y-493 phosphorylation of ZAP70 and phosphorylation of LAT and LCP2; increases subcellular localization of CD69 at the cell surface; weakly decreases autoinhibition conformation Combined immunodeficiency Combined immunodeficiency due to ZAP70 deficiency [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV000687243 rs1559328006 |
416 | M>missing | ZAP70-Related Severe Combined Immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000032160 CA343162 VAR_065624 rs113994174 |
465 | R>C | IMD48 Combined immunodeficiency due to ZAP70 deficiency [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000033214 CA261254 VAR_015538 COSM1024104 rs137853201 |
465 | R>H | large_intestine endometrium IMD48 Combined immunodeficiency due to ZAP70 deficiency [Cosmic, UniProt, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000647919 rs758807149 CA1790453 |
472 | R>Q | ZAP70-Related Severe Combined Immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1559329401 CA347803656 RCV000694595 |
477 | I>V | ZAP70-Related Severe Combined Immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs149765220 CA1790487 RCV000699346 |
497 | S>L | ZAP70-Related Severe Combined Immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000014164 rs730880319 |
504 | K>missing | Combined immunodeficiency due to ZAP70 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_006351 RCV000033208 CA261252 rs104893674 |
518 | S>R | IMD48 Combined immunodeficiency due to ZAP70 deficiency [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA347804498 RCV000687834 rs1559329735 |
531 | E>K | ZAP70-Related Severe Combined Immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000297141 rs150950017 CA1790529 |
549 | M>V | Combined immunodeficiency due to ZAP70 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA343164 RCV000032161 rs113994175 |
572 | M>L | Combined immunodeficiency due to ZAP70 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA347806303 rs1559330813 RCV000689774 |
586 | F>S | ZAP70-Related Severe Combined Immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1790585 RCV000330929 rs371359430 |
611 | T>I | Combined immunodeficiency due to ZAP70 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1559319752 RCV000722857 |
1 | M>I | No |
ClinVar dbSNP |
|
|
rs201017088 CA52553081 |
2 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs201017088 CA347786598 |
2 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs747992447 CA1790009 |
4 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1463285003 CA347786658 |
4 | P>S | No |
ClinGen TOPMed |
|
|
rs1458452246 CA347786700 |
5 | A>V | No |
ClinGen gnomAD |
|
|
rs765386540 CA52553113 |
6 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1790010 rs765386540 |
6 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1573261600 CA347786814 |
7 | H>P | No |
ClinGen Ensembl |
|
|
rs202216858 CA1790011 |
7 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1790012 rs746909186 |
9 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA52553143 rs867147272 |
12 | Y>* | No |
ClinGen Ensembl |
|
|
rs1340607126 CA347787061 |
13 | G>R | No |
ClinGen gnomAD |
|
|
rs1559319806 CA347787104 |
14 | S>N | No |
ClinGen Ensembl |
|
|
rs1342560587 CA347787234 |
16 | S>L | No |
ClinGen TOPMed |
|
|
CA347787268 rs1225966715 |
17 | R>C | No |
ClinGen TOPMed |
|
|
CA347787277 rs1246320051 |
17 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1246320051 CA347787287 |
17 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs770495620 CA1790014 |
20 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA347787407 rs1275740537 |
21 | E>* | No |
ClinGen gnomAD |
|
|
rs1315183954 CA347787643 |
26 | L>V | No |
ClinGen TOPMed |
|
|
rs373708142 CA1790016 |
27 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201125862 CA1790015 |
27 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA347787749 rs1424537060 |
29 | M>T | No |
ClinGen gnomAD |
|
|
rs201941891 CA52553161 |
30 | A>E | No |
ClinGen Ensembl |
|
|
CA52553163 rs201941891 |
30 | A>V | No |
ClinGen Ensembl |
|
|
rs1371279634 CA347787890 |
32 | G>R | No |
ClinGen gnomAD |
|
|
CA347787942 rs1475005133 |
33 | L>F | No |
ClinGen gnomAD |
|
|
CA347788050 rs1372126744 |
35 | L>R | No |
ClinGen gnomAD |
|
|
rs56077145 CA52553172 |
36 | L>V | No |
ClinGen Ensembl |
|
|
rs1573261820 CA347788105 |
37 | R>G | No |
ClinGen Ensembl |
|
|
rs1311937867 CA347788126 |
37 | R>H | No |
ClinGen gnomAD |
|
|
CA1790020 rs762308963 |
38 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
RCV000578778 CA347788238 rs897972295 |
39 | C>* | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs767957548 CA1790021 |
41 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs767957548 CA347788307 |
41 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA52553189 rs200207787 |
43 | L>Q | No |
ClinGen Ensembl |
|
|
CA347788427 rs1232545576 |
44 | G>D | No |
ClinGen gnomAD |
|
|
rs1483668148 CA347788440 |
45 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA347788436 rs1483668148 |
45 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1790024 rs766487707 |
46 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA347788525 rs1371503399 |
48 | L>V | No |
ClinGen TOPMed |
|
|
CA52553199 rs201525133 |
49 | S>L | No |
ClinGen Ensembl |
|
|
CA1790025 rs753930352 |
51 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA347788621 rs1464403880 |
51 | V>L | No |
ClinGen gnomAD |
|
|
CA347788655 rs1391918526 |
52 | H>P | No |
ClinGen gnomAD |
|
|
rs138447206 CA347788663 |
52 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA52553210 rs377195771 |
52 | H>Y | No |
ClinGen Ensembl |
|
|
rs1377860088 CA347788690 |
54 | V>M | No |
ClinGen gnomAD |
|
|
CA347788727 rs752880934 |
55 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA1790029 rs758219921 |
55 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA1790028 rs752880934 |
55 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA347788970 rs1422665524 |
61 | I>N | No |
ClinGen TOPMed |
|
|
rs1253501517 CA347789007 |
62 | E>G | No |
ClinGen TOPMed |
|
|
CA347788995 rs1439174498 |
62 | E>K | No |
ClinGen gnomAD |
|
|
CA347789001 rs1439174498 |
62 | E>Q | No |
ClinGen gnomAD |
|
|
CA347789021 rs1300937876 |
63 | R>C | No |
ClinGen gnomAD |
|
|
rs1313032320 CA347789032 COSM95554 |
63 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs770705407 CA1790032 |
64 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA52553241 rs770705407 RCV000498370 |
64 | Q>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1235629943 CA347789073 |
64 | Q>R | No |
ClinGen gnomAD |
|
|
rs781177968 CA347789140 |
66 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA52553243 rs200701137 |
66 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs749246243 CA52553242 |
66 | N>Y | No |
ClinGen Ensembl |
|
|
rs745420613 CA347789185 |
67 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1467042851 CA347789249 |
68 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1790035 rs138628302 |
68 | T>S | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA347789233 rs1467042851 |
68 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1790036 rs201924061 |
70 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs982662914 CA52553256 |
73 | G>C | No |
ClinGen TOPMed |
|
|
rs982662914 CA347789438 |
73 | G>R | No |
ClinGen TOPMed |
|
|
rs982662914 CA347789435 |
73 | G>S | No |
ClinGen TOPMed |
|
|
rs1002450853 CA52553279 |
74 | G>C | No |
ClinGen TOPMed |
|
|
rs1410760446 CA347789619 |
77 | H>R | No |
ClinGen gnomAD |
|
|
rs767405698 CA52553291 |
78 | C>R | No |
ClinGen gnomAD |
|
|
CA347789711 rs1428158220 |
79 | G>V | No |
ClinGen TOPMed |
|
|
CA347789720 rs1391474757 |
80 | P>S | No |
ClinGen gnomAD |
|
|
CA52553321 rs937789882 |
81 | A>G | No |
ClinGen gnomAD |
|
|
rs867541716 CA347789741 |
81 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA52553312 rs867541716 |
81 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA347789802 rs937789882 |
81 | A>V | No |
ClinGen gnomAD |
|
|
CA347789812 rs1388859022 |
82 | E>K | No |
ClinGen gnomAD |
|
|
rs1388859022 CA347789821 |
82 | E>Q | No |
ClinGen gnomAD |
|
|
rs201106827 CA52553327 |
84 | C>R | No |
ClinGen Ensembl |
|
|
CA347790007 rs1305217788 |
85 | E>K | No |
ClinGen gnomAD |
|
|
CA347790005 rs1305217788 |
85 | E>Q | No |
ClinGen gnomAD |
|
|
rs1229106707 CA347790139 |
87 | Y>H | No |
ClinGen gnomAD |
|
|
rs1054793684 CA52553337 |
88 | S>L | No |
ClinGen TOPMed |
|
|
rs1332610325 CA347790273 |
89 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA347790288 rs1332610325 |
89 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs759571835 CA1790043 |
91 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1265925158 CA347790350 |
91 | P>T | No |
ClinGen gnomAD |
|
|
CA52553374 rs930274911 |
92 | D>Y | No |
ClinGen Ensembl |
|
|
CA52553379 rs1047650227 |
93 | G>E | No |
ClinGen Ensembl |
|
|
rs765316566 CA1790044 |
95 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1790046 rs758557607 |
99 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1183754253 CA347790548 |
99 | R>H | No |
ClinGen gnomAD |
|
|
rs1183754253 CA347790549 |
99 | R>P | No |
ClinGen gnomAD |
|
|
rs1573262435 CA347790599 |
101 | P>Q | No |
ClinGen Ensembl |
|
|
CA347790605 rs1414958584 |
102 | C>S | No |
ClinGen gnomAD |
|
|
rs56264206 CA52553393 |
103 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA52553399 rs55845489 |
103 | N>K | No |
ClinGen Ensembl |
|
|
CA1790047 rs56264206 |
103 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs55679020 CA52553402 |
104 | R>P | No |
ClinGen Ensembl |
|
|
rs781033785 CA1790050 |
106 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347790765 rs745778680 |
107 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA1790051 rs745778680 |
107 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA347790825 rs1355877484 |
109 | E>G | No |
ClinGen TOPMed |
|
|
rs559342309 CA52553411 |
109 | E>K | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1263938808 CA347790872 |
110 | P>L | No |
ClinGen TOPMed |
|
|
CA347790860 rs1353682044 |
110 | P>T | No |
ClinGen gnomAD |
|
|
CA347790900 rs1313419932 |
112 | P>L | No |
ClinGen gnomAD |
|
|
CA52553436 rs111771234 |
115 | F>I | No |
ClinGen Ensembl |
|
|
rs1266626102 CA347791077 |
117 | C>R | No |
ClinGen Ensembl |
|
|
rs1472217674 CA347791184 |
121 | A>P | No |
ClinGen gnomAD |
|
|
rs1228028458 CA347791196 |
121 | A>V | No |
ClinGen gnomAD |
|
|
CA347791256 rs1181926950 |
123 | V>A | No |
ClinGen gnomAD |
|
|
rs774131317 CA1790056 |
124 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747379748 CA1790057 |
124 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA347791297 rs1370381457 |
125 | D>N | No |
ClinGen gnomAD |
|
|
CA1790058 rs200514384 |
126 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1310156774 CA347791416 |
127 | V>A | No |
ClinGen gnomAD |
|
|
CA347791509 rs1447408552 |
130 | T>M | No |
ClinGen gnomAD |
|
|
rs1357628018 CA347791493 |
130 | T>S | No |
ClinGen gnomAD |
|
|
CA347791609 rs1381290076 |
134 | E>Q | No |
ClinGen gnomAD |
|
|
CA1790091 rs778513394 |
137 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA1790090 rs754563357 |
137 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1790092 rs752305377 COSM273479 |
138 | L>P | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1402343539 CA347792121 |
142 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs201206711 CA52553885 |
143 | I>F | No |
ClinGen Ensembl |
|
|
CA52553888 rs202119308 |
144 | S>G | No |
ClinGen Ensembl |
|
|
CA347792266 rs1311654602 |
146 | A>T | No |
ClinGen TOPMed |
|
|
CA347792281 rs1363566836 |
146 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs746301498 CA1790095 |
147 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA347792507 rs1470870960 |
152 | L>V | No |
ClinGen gnomAD |
|
|
CA347792645 rs1266171275 |
156 | T>M | No |
ClinGen gnomAD |
|
|
CA1790102 rs56404668 |
158 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs56404668 CA347792708 |
158 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347792757 rs1263533157 |
159 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA347792724 rs1263533157 |
159 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1197780352 CA347792809 |
160 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1197780352 CA347792811 COSM199054 |
160 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs773287941 CA1790103 |
160 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA52553957 rs921816880 |
162 | P>H | No |
ClinGen gnomAD |
|
|
rs1573264701 CA347793005 |
164 | Y>D | No |
ClinGen Ensembl |
|
|
rs563362950 CA1790104 |
166 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1177542120 CA347793057 |
166 | S>T | No |
ClinGen gnomAD |
|
|
CA52553978 rs201480172 |
168 | L>Q | No |
ClinGen Ensembl |
|
|
rs1387121068 CA347793126 |
169 | T>M | No |
ClinGen gnomAD |
|
|
rs1321776015 CA347793134 |
170 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA1790106 rs199631517 |
171 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1790108 rs764657700 |
174 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1790110 rs752318274 |
175 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs752318274 CA1790109 |
175 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs55964305 CA347793217 |
175 | R>H | No |
ClinGen gnomAD |
|
|
CA52554004 rs55964305 VAR_041846 |
175 | R>L | No |
ClinGen UniProt dbSNP gnomAD |
|
|
rs752318274 CA52553994 |
175 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs777528648 CA1790111 |
176 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs756495134 CA1790113 |
179 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs749801885 CA1790115 |
181 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347793375 rs1481187788 |
185 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1573278256 CA347796516 |
190 | R>G | No |
ClinGen Ensembl |
|
|
rs745705250 CA1790140 |
190 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM722805 CA1790142 rs56403250 VAR_041847 |
191 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
|
CA347796590 rs56403250 |
191 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347796581 rs1352577409 |
191 | P>S | No |
ClinGen TOPMed |
|
|
rs200950204 CA1790144 |
192 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1790146 rs767210412 |
194 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1085307460 CA347796778 RCV000488997 |
197 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA347796784 rs1573278361 |
198 | Y>N | No |
ClinGen Ensembl |
|
|
CA347796823 rs1172768882 |
199 | A>S | No |
ClinGen gnomAD |
|
|
rs372504093 CA1790150 |
200 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758760631 CA1790151 |
202 | L>F | No |
ClinGen ExAC |
|
|
rs751747318 CA1790153 |
203 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs757387976 CA1790154 |
204 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA52558400 rs775411958 |
207 | T>A | No |
ClinGen gnomAD |
|
|
CA347797092 rs1276040105 |
208 | V>A | No |
ClinGen gnomAD |
|
|
rs972240380 CA52558407 |
210 | H>P | No |
ClinGen Ensembl |
|
|
rs1573278519 CA347797153 |
211 | Y>S | No |
ClinGen Ensembl |
|
|
CA1790160 rs768536920 |
213 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA347797293 rs539122081 |
214 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1790161 rs539122081 |
214 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA52558474 rs201082521 |
215 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1488118538 CA347797346 |
215 | Q>R | No |
ClinGen TOPMed |
|
|
rs761356923 CA1790162 |
216 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA347797452 rs76059124 |
218 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1790163 rs76059124 |
218 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1790166 rs201752492 |
224 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA347797700 rs760183161 |
224 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs760183161 CA1790165 |
224 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs144692859 COSM1233089 CA52558516 |
225 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
CA347797763 rs1331433365 |
226 | G>D | No |
ClinGen TOPMed |
|
|
rs1366382162 CA347797825 |
228 | K>R | No |
ClinGen gnomAD |
|
|
rs141613906 CA1790169 |
231 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA52558567 rs201643850 |
232 | L>F | No |
ClinGen ExAC |
|
|
rs201643850 CA1790173 |
232 | L>I | No |
ClinGen ExAC |
|
|
CA347798083 rs1326428934 |
234 | Q>H | No |
ClinGen gnomAD |
|
|
CA1790193 rs754055723 |
243 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199874724 CA1790196 |
245 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347798488 rs1425056615 |
248 | Y>C | No |
ClinGen gnomAD |
|
|
CA52558716 rs986312759 |
248 | Y>H | No |
ClinGen Ensembl |
|
|
CA347798578 rs1389260580 |
252 | E>K | No |
ClinGen TOPMed |
|
|
rs770442214 CA1790200 |
254 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs982668677 CA52558752 |
255 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1573279210 CA347798714 |
257 | S>N | No |
ClinGen Ensembl |
|
|
rs769148384 CA347798766 |
260 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769148384 CA1790204 |
260 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1790205 rs200035151 |
261 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1359245245 CA347798788 |
261 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1359245245 CA347798786 |
261 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs768188594 CA1790207 |
262 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA347798859 rs1324339707 |
264 | G>A | No |
ClinGen gnomAD |
|
|
CA1790208 rs572701573 |
264 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779887992 CA347798864 |
265 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs779887992 CA1790240 |
265 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1485459282 CA347798870 |
265 | A>V | No |
ClinGen gnomAD |
|
|
CA347798883 rs1205433722 |
267 | A>T | No |
ClinGen gnomAD |
|
|
CA347798894 rs1263424588 |
268 | P>S | No |
ClinGen gnomAD |
|
|
rs1573279835 CA347798912 |
269 | T>P | No |
ClinGen Ensembl |
|
|
rs1429425867 CA347798929 |
270 | L>P | No |
ClinGen gnomAD |
|
|
rs1179297779 CA347798945 |
272 | A>T | No |
ClinGen gnomAD |
|
|
CA347798961 rs1573279890 |
273 | H>P | No |
ClinGen Ensembl |
|
|
CA347798959 rs1410316068 |
273 | H>Y | No |
ClinGen gnomAD |
|
|
rs955067565 CA52559049 |
275 | S>P | No |
ClinGen Ensembl |
|
|
CA347799034 rs1244767669 |
278 | T>I | No |
ClinGen gnomAD |
|
|
CA347799045 rs759650270 |
279 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1790247 rs759650270 |
279 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201776628 CA1790246 |
279 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760626189 CA1790277 |
280 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760626189 CA1790278 |
280 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753453013 CA1790279 |
281 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs754420169 CA1790280 |
283 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA347799256 rs764977425 |
283 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA1790281 rs764977425 |
283 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1790284 rs781477800 COSM1233086 |
285 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA52559320 rs200126170 RCV000788288 |
289 | S>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA52559327 rs909677452 |
293 | T>S | No |
ClinGen Ensembl |
|
|
CA347799539 rs1573280624 |
294 | P>A | No |
ClinGen Ensembl |
|
|
CA1790287 rs780517718 |
295 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA52559339 rs201225206 |
296 | P>S | No |
ClinGen Ensembl |
|
|
CA52560310 rs200214533 |
298 | R>C | No |
ClinGen Ensembl |
|
|
rs201560822 CA52560311 |
298 | R>H | No |
ClinGen Ensembl |
|
|
CA347800260 rs1317877867 |
299 | I>M | No |
ClinGen gnomAD |
|
|
rs769350009 CA1790316 |
300 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1573282556 CA347800267 |
301 | S>P | No |
ClinGen Ensembl |
|
|
CA347800273 rs1559327026 |
302 | P>A | No |
ClinGen Ensembl |
|
|
rs574174678 CA1790318 |
302 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347800284 rs1200167356 |
303 | D>E | No |
ClinGen gnomAD |
|
|
rs1490208855 COSM73325 CA347800281 |
303 | D>G | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA347800291 rs1573282601 |
304 | K>N | No |
ClinGen Ensembl |
|
|
rs762428344 CA1790320 |
305 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347800294 rs1453010410 |
305 | P>S | No |
ClinGen TOPMed |
|
|
CA347800299 rs1157897539 |
306 | R>P | No |
ClinGen gnomAD |
|
|
CA1790321 rs200510184 |
306 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1270671 rs903840321 CA52560389 |
312 | T>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA347800347 rs1333449768 |
313 | S>I | No |
ClinGen gnomAD |
|
|
rs145218891 CA1790328 |
313 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1790327 rs145218891 |
313 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770861777 CA1790331 |
316 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA347800382 rs1573282754 |
318 | P>L | No |
ClinGen Ensembl |
|
|
CA347800385 rs1559327119 |
319 | Y>H | No |
ClinGen Ensembl |
|
|
CA52560435 rs199993140 |
321 | D>H | No |
ClinGen TOPMed |
|
|
CA347800400 rs199993140 |
321 | D>N | No |
ClinGen TOPMed |
|
|
rs200511463 CA1790335 |
325 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1294092617 CA347800435 |
326 | K>E | No |
ClinGen gnomAD |
|
|
CA347800437 rs1437082261 |
326 | K>R | No |
ClinGen TOPMed |
|
|
rs1376561896 CA347800443 |
327 | D>N | No |
ClinGen TOPMed |
|
|
rs1233378293 CA347800483 |
329 | K>R | No |
ClinGen gnomAD |
|
|
CA1790337 rs371574765 |
330 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200119693 CA52560480 |
334 | R>H | No |
ClinGen gnomAD |
|
|
rs1186682126 CA347800538 |
334 | R>S | No |
ClinGen TOPMed |
|
|
rs1424948927 CA347800556 |
335 | D>E | No |
ClinGen gnomAD |
|
|
rs767197242 CA1790340 |
336 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1573282936 CA347800563 |
336 | N>T | No |
ClinGen Ensembl |
|
|
rs754217622 CA1790341 |
337 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1790342 rs201221859 |
338 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347800595 rs1328780961 |
339 | I>T | No |
ClinGen gnomAD |
|
|
rs1559327232 CA347800597 |
340 | A>T | No |
ClinGen Ensembl |
|
|
CA52560519 rs199863426 |
343 | E>* | No |
ClinGen Ensembl |
|
|
rs948337308 CA52560533 |
346 | C>R | No |
ClinGen TOPMed |
|
|
CA347800684 COSM2152996 rs1337608513 |
347 | G>S | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA347800696 rs1195234572 |
348 | N>D | No |
ClinGen gnomAD |
|
|
CA347800756 rs1273641941 |
353 | R>S | No |
ClinGen gnomAD |
|
|
rs113310375 CA52560579 |
356 | V>A | No |
ClinGen Ensembl |
|
|
rs1242353145 CA347800821 |
356 | V>M | No |
ClinGen gnomAD |
|
|
CA347800844 rs1573283113 |
357 | Y>S | No |
ClinGen Ensembl |
|
|
rs202131881 CA1790347 |
358 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1790348 rs757486529 |
359 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA1790349 rs781463009 |
360 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235187213 CA347801209 |
362 | K>N | No |
ClinGen gnomAD |
|
|
rs1205411655 CA347801283 |
365 | D>E | No |
ClinGen gnomAD |
|
|
CA347801278 rs1208694003 |
365 | D>G | No |
ClinGen TOPMed |
|
|
rs1349649637 CA347801270 |
365 | D>H | No |
ClinGen gnomAD |
|
|
CA347801290 rs1264869571 |
366 | V>M | No |
ClinGen gnomAD |
|
|
CA347801335 rs1353718347 |
368 | I>V | No |
ClinGen TOPMed |
|
|
rs1573284622 CA347801419 |
372 | K>T | No |
ClinGen Ensembl |
|
|
CA1790379 rs746618369 |
373 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs770061572 CA1790380 |
374 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1178844697 CA347801449 |
374 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM477791 rs776066014 CA1790381 |
375 | T>M | kidney large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA347801473 rs776066014 |
375 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA1790383 rs764746969 |
376 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA347801516 rs921796161 |
378 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1790384 rs774959464 |
378 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA52561479 rs921796161 |
378 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA347801545 rs1573284696 |
380 | T>M | No |
ClinGen Ensembl |
|
|
CA1790387 rs199944085 |
385 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559327875 CA347801619 |
385 | R>H | No |
ClinGen Ensembl |
|
|
rs199944085 CA1790388 |
385 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347801631 rs1335015444 |
386 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA347801628 rs1335015444 |
386 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA52561551 rs1000673530 |
387 | A>V | No |
ClinGen Ensembl |
|
|
rs146721343 CA52561566 |
392 | Q>H | No |
ClinGen ESP |
|
|
rs201949417 CA52561556 |
392 | Q>K | No |
ClinGen Ensembl |
|
|
rs754732382 CA1790391 |
395 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1790392 rs200097002 |
397 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752635149 CA1790393 |
398 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752635149 CA1790394 |
398 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777273862 CA1790395 |
399 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347801789 rs1177191144 |
400 | R>Q | No |
ClinGen TOPMed |
|
|
CA1790396 rs746499029 |
401 | L>F | No |
ClinGen ExAC |
|
|
rs770766093 CA1790397 |
402 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1382435617 CA347801831 |
403 | G>D | No |
ClinGen gnomAD |
|
|
rs150323148 CA52561620 |
409 | A>S | No |
ClinGen ESP gnomAD |
|
|
CA1790398 rs780970275 |
409 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201100932 CA1790401 |
410 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201100932 CA1790400 |
410 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1024102 rs201293673 CA1790402 |
413 | V>I | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs1032106214 CA52561670 |
416 | M>V | No |
ClinGen Ensembl |
|
|
CA347802108 rs1296384937 |
417 | A>V | No |
ClinGen gnomAD |
|
|
rs772452475 CA1790403 |
418 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs1380264429 CA347802135 |
419 | G>D | No |
ClinGen gnomAD |
|
|
CA347802132 rs1197809501 |
419 | G>S | No |
ClinGen TOPMed |
|
|
rs760646899 CA1790405 |
420 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs766625540 CA1790406 COSM3783452 |
421 | P>L | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs759353566 CA1790408 |
423 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764958623 CA1790409 |
425 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764958623 RCV001328422 CA1790410 |
425 | F>Y | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV000482821 rs1064793340 |
427 | V>missing | No |
ClinVar dbSNP |
|
|
rs1443145518 CA347802229 |
427 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
CA52561710 rs149448335 |
428 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA52561702 rs149448335 |
428 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1790413 rs149448335 |
428 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781013132 CA1790415 |
430 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1214000974 CA347803229 |
432 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs747461254 CA1790440 |
436 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747461254 CA347803252 |
436 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201906752 CA1790442 |
440 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA52564024 rs199775081 |
441 | L>M | No |
ClinGen Ensembl |
|
|
CA1790444 rs770105318 |
442 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA52564033 rs373787406 |
445 | V>M | No |
ClinGen Ensembl |
|
|
rs775546124 CA1790445 |
447 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347803406 rs1300700279 |
456 | N>S | No |
ClinGen gnomAD |
|
|
rs1344287196 CA347803419 |
457 | F>S | No |
ClinGen gnomAD |
|
|
CA347803452 rs1436454526 |
460 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1275947613 CA347803454 |
460 | R>H | No |
ClinGen gnomAD |
|
|
CA1790448 rs774434467 |
463 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA347803487 rs774434467 COSM1532891 |
463 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1219039007 CA347803498 |
464 | A>G | No |
ClinGen gnomAD |
|
|
CA1790451 rs766082644 |
467 | V>I | No |
ClinGen ExAC gnomAD |
|
|
RCV000454753 rs1060499918 CA16609720 |
470 | V>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1176359520 CA347803572 |
471 | N>S | No |
ClinGen gnomAD |
|
|
rs201266526 COSM3739993 CA1790452 |
472 | R>W | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA347803591 rs1364472395 |
473 | H>P | No |
ClinGen gnomAD |
|
|
rs199994054 CA1790455 |
475 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199994054 CA52564165 |
475 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201117726 CA1790457 |
478 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559329419 CA347803750 |
482 | L>F | No |
ClinGen Ensembl |
|
|
rs775805179 CA1790460 |
485 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA347803824 rs1291960553 |
487 | G>D | No |
ClinGen gnomAD |
|
|
rs200914614 CA1790462 |
489 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347803841 rs1238614221 |
489 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1790464 rs56059280 |
490 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1164453696 CA347803942 |
494 | T>I | No |
ClinGen gnomAD |
|
|
rs770902102 CA1790485 |
496 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs150631046 COSM2153520 CA1790486 |
496 | R>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs150631046 CA347803989 |
496 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA52564438 rs867742833 |
502 | P>S | No |
ClinGen Ensembl |
|
|
CA1790491 rs767813141 |
505 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA347804106 rs1231599043 |
505 | W>* | No |
ClinGen TOPMed |
|
|
rs767813141 CA52564508 |
505 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA347804123 rs1573289714 |
506 | Y>D | No |
ClinGen Ensembl |
|
|
rs1490601314 COSM3695679 CA347804141 |
507 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA347804175 rs1413652168 |
509 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs550812644 CA1790493 COSM1024106 |
509 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
COSM199058 rs1264564157 CA347804254 |
514 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA347804256 rs1479110292 COSM1233087 |
514 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1479110292 CA347804260 |
514 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs780586765 CA1790495 |
517 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs959265564 CA52564591 |
519 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs201003454 CA1790497 |
519 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1024110 rs748318780 CA1790499 |
521 | D>N | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
VAR_041849 rs56189815 CA52564605 |
523 | W>L | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs771994200 CA1790500 |
523 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs777782165 CA1790501 |
526 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1559329712 CA347804424 |
526 | G>R | No |
ClinGen Ensembl |
|
|
CA52564615 rs56146954 |
527 | V>G | No |
ClinGen Ensembl |
|
|
rs1301038594 CA347804434 |
527 | V>I | No |
ClinGen TOPMed |
|
|
CA1790502 rs746810754 |
530 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs776602738 CA52564617 |
536 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776602738 CA1790504 |
536 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418519863 CA347804803 |
541 | K>M | No |
ClinGen TOPMed |
|
|
rs1483690367 CA347805028 |
543 | M>L | No |
ClinGen gnomAD |
|
|
CA347805129 rs1369094426 COSM1410139 |
546 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA347805177 RCV000722512 rs1559329905 |
548 | V>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA1790530 rs760966849 |
550 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs766706397 CA1790531 |
552 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1024111 CA1790533 rs760184455 |
553 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1322986133 CA347805344 |
556 | K>E | No |
ClinGen gnomAD |
|
|
CA347805361 rs1220417043 |
556 | K>N | No |
ClinGen TOPMed |
|
|
rs201606579 CA52564836 COSM443415 |
557 | R>Q | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs200513049 COSM1483396 CA1790535 |
557 | R>W | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1412860749 CA347805381 |
558 | M>L | No |
ClinGen gnomAD |
|
|
rs1573290488 CA347805403 |
559 | E>G | No |
ClinGen Ensembl |
|
|
rs1573290512 CA347805414 |
560 | C>G | No |
ClinGen Ensembl |
|
|
rs1064793298 CA16617775 RCV000482430 |
560 | C>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1199615137 CA347805435 |
561 | P>S | No |
ClinGen gnomAD |
|
|
CA347805466 rs1482419899 |
562 | P>L | No |
ClinGen gnomAD |
|
|
rs989274981 CA52564842 |
562 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1790536 rs369718198 |
563 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1360120006 CA347805506 |
564 | C>G | No |
ClinGen TOPMed |
|
|
CA1790538 rs757015607 |
567 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780975280 CA1790540 |
568 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780975280 CA1790539 |
568 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1790542 COSM199059 rs572839729 |
570 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs1174846807 CA347805559 |
570 | A>V | No |
ClinGen TOPMed |
|
|
rs748826759 CA1790543 |
573 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1357191899 CA347805578 |
573 | S>N | No |
ClinGen gnomAD |
|
|
CA1790545 rs773884983 |
577 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA347805620 rs747766986 |
578 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347806231 rs1248786675 |
580 | W>* | No |
ClinGen gnomAD |
|
|
CA52566050 rs985765925 |
583 | R>C | No |
ClinGen Ensembl |
|
|
CA16617776 RCV000484238 rs1017182331 |
583 | R>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs201469439 CA1790567 |
584 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746270455 CA1790566 |
584 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs200648080 CA52566102 |
585 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1790570 rs200648080 |
585 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs924497317 CA52566181 |
588 | T>N | No |
ClinGen Ensembl |
|
|
CA347806325 rs1573292818 |
588 | T>P | No |
ClinGen Ensembl |
|
|
CA1790574 rs149605945 |
589 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753242822 CA1790575 |
592 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM140993 CA52566200 rs200586622 |
592 | R>H | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs55724897 COSM1024112 CA52566212 |
594 | R>* | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs55724897 CA347806405 |
594 | R>G | No |
ClinGen gnomAD |
|
|
rs55803111 CA1790576 |
594 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs56326640 CA52566235 |
595 | A>S | No |
ClinGen gnomAD |
|
|
CA347806415 rs56326640 |
595 | A>T | No |
ClinGen gnomAD |
|
|
CA1790577 rs753623803 |
596 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754998342 CA1790578 |
599 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1195627009 CA347806483 |
599 | S>I | No |
ClinGen TOPMed |
|
|
rs148332283 CA1790579 |
599 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1222194883 CA347806508 |
601 | A>G | No |
ClinGen gnomAD |
|
|
rs1451010493 CA347806501 |
601 | A>T | No |
ClinGen gnomAD |
|
|
rs1222194883 CA347806510 |
601 | A>V | No |
ClinGen gnomAD |
|
|
CA347806543 rs1573292982 |
604 | V>G | No |
ClinGen Ensembl |
|
|
rs918014655 CA52566281 |
607 | P>L | No |
ClinGen gnomAD |
|
|
CA1790582 rs777594416 |
607 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs56250717 CA52566285 |
609 | G>D | No |
ClinGen Ensembl |
|
|
CA1790583 rs746603586 |
609 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770287572 CA1790584 |
610 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs749604693 CA1790586 |
612 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1160907260 CA347806630 |
612 | Q>R | No |
ClinGen gnomAD |
|
|
rs769243855 CA1790587 |
613 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166106157 CA347806650 |
615 | E>A | No |
ClinGen gnomAD |
|
|
rs1200171477 CA347806658 |
616 | A>P | No |
ClinGen TOPMed |
|
|
rs1200171477 CA347806656 |
616 | A>T | No |
ClinGen TOPMed |
|
|
rs1444955242 CA347806689 |
618 | C>F | No |
ClinGen gnomAD |
1 associated diseases with P43403
[MIM: 601626]: Leukemia, acute myelogenous (AML)
A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. {ECO:0000269|PubMed:11090077, ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097, ECO:0000269|PubMed:16266983, ECO:0000269|PubMed:18305215, ECO:0000269|PubMed:8946930, ECO:0000269|PubMed:9737679}. Note=The gene represented in this entry may be involved in disease pathogenesis. Somatic mutations that lead to constitutive activation of FLT3 are frequent in AML patients. These mutations fall into two classes, the most common being in-frame internal tandem duplications of variable length in the juxtamembrane region that disrupt the normal regulation of the kinase activity. Likewise, point mutations in the activation loop of the kinase domain can result in a constitutively activated kinase.
Without disease ID
- A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. {ECO:0000269|PubMed:11090077, ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097, ECO:0000269|PubMed:16266983, ECO:0000269|PubMed:18305215, ECO:0000269|PubMed:8946930, ECO:0000269|PubMed:9737679}. Note=The gene represented in this entry may be involved in disease pathogenesis. Somatic mutations that lead to constitutive activation of FLT3 are frequent in AML patients. These mutations fall into two classes, the most common being in-frame internal tandem duplications of variable length in the juxtamembrane region that disrupt the normal regulation of the kinase activity. Likewise, point mutations in the activation loop of the kinase domain can result in a constitutively activated kinase.
8 regional properties for P43403
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 610 - 943 | IPR000719 |
| domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 610 - 943 | IPR001245 |
| conserved_site | Tyrosine-protein kinase, receptor class III, conserved site | 669 - 682 | IPR001824 |
| domain | Immunoglobulin-like domain | 253 - 343 | IPR007110 |
| active_site | Tyrosine-protein kinase, active site | 807 - 819 | IPR008266 |
| domain | Immunoglobulin | 257 - 344 | IPR013151 |
| binding_site | Protein kinase, ATP binding site | 616 - 644 | IPR017441 |
| domain | Tyrosine-protein kinase, catalytic domain | 610 - 943 | IPR020635 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.10.2 | Protein-tyrosine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR24418 | TYROSINE-PROTEIN KINASE |
| PANTHER Subfamily | PTHR24418:SF369 | TYROSINE-PROTEIN KINASE ZAP-70 |
| PANTHER Protein Class | non-receptor tyrosine protein kinase | |
| PANTHER Pathway Category |
T cell activation ZAP-70 |
|
7 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. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extrinsic component of cytoplasmic side of plasma membrane | The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to its cytoplasmic surface, but not integrated into the hydrophobic region. |
| immunological synapse | An area of close contact between a lymphocyte (T-, B-, or natural killer cell) and a target cell formed through the clustering of particular signaling and adhesion molecules and their associated membrane rafts on both the lymphocyte and the target cell and facilitating activation of the lymphocyte, transfer of membrane from the target cell to the lymphocyte, and in some situations killing of the target cell through release of secretory granules and/or death-pathway ligand-receptor interaction. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| T cell receptor complex | A protein complex that contains a disulfide-linked heterodimer of T cell receptor (TCR) chains, which are members of the immunoglobulin superfamily, and mediates antigen recognition, ultimately resulting in T cell activation. The TCR heterodimer is associated with the CD3 complex, which consists of the nonpolymorphic polypeptides gamma, delta, epsilon, zeta, and, in some cases, eta (an RNA splice variant of zeta) or Fc epsilon chains. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| non-membrane spanning protein tyrosine kinase activity | Catalysis of the reaction: ATP + protein L-tyrosine = ADP + protein L-tyrosine phosphate by a non-membrane spanning protein. |
| phosphotyrosine residue binding | Binding to a phosphorylated tyrosine residue within a protein. |
| 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 binding | Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
22 GO annotations of biological process
| Name | Definition |
|---|---|
| adaptive immune response | An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). |
| B cell activation | The change in morphology and behavior of a mature or immature B cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. |
| beta selection | The process in which successful recombination of a T cell receptor beta chain into a translatable protein coding sequence leads to rescue from apoptosis and subsequent proliferation of an immature T cell. |
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| immune response | Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| negative thymic T cell selection | The process of elimination of immature T cells in the thymus which react strongly with self-antigens. |
| peptidyl-tyrosine phosphorylation | The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine. |
| positive regulation of alpha-beta T cell differentiation | Any process that activates or increases the frequency, rate or extent of alpha-beta T cell differentiation. |
| positive regulation of alpha-beta T cell proliferation | Any process that activates or increases the frequency, rate or extent of alpha-beta T cell proliferation. |
| positive regulation of calcium-mediated signaling | Any process that activates or increases the frequency, rate or extent of calcium-mediated signaling. |
| positive regulation of T cell differentiation | Any process that activates or increases the frequency, rate or extent of T cell differentiation. |
| positive thymic T cell selection | The process of sparing immature T cells in the thymus which react with self-MHC protein complexes with low affinity levels from apoptotic death. |
| 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). |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| 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 aggregation | The adhesion of one T cell to one or more other T cells via adhesion molecules. |
| T cell differentiation | The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex. |
| T cell migration | The movement of a T cell within or between different tissues and organs of the body. |
| T cell receptor signaling pathway | The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell. |
| 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. |
36 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| F1N9Y5 | SYK | Tyrosine-protein kinase SYK | Gallus gallus (Chicken) | SS |
| P43405 | SYK | Tyrosine-protein kinase SYK | Homo sapiens (Human) | EV |
| Q13882 | PTK6 | Protein-tyrosine kinase 6 | Homo sapiens (Human) | EV |
| P09769 | FGR | Tyrosine-protein kinase Fgr | Homo sapiens (Human) | SS |
| 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 |
| P51451 | BLK | Tyrosine-protein kinase Blk | Homo sapiens (Human) | SS |
| P08631 | HCK | Tyrosine-protein kinase HCK | Homo sapiens (Human) | EV |
| P07947 | YES1 | Tyrosine-protein kinase Yes | Homo sapiens (Human) | SS |
| P42685 | FRK | Tyrosine-protein kinase FRK | Homo sapiens (Human) | EV |
| Q08881 | ITK | Tyrosine-protein kinase ITK/TSK | Homo sapiens (Human) | EV |
| Q06187 | BTK | Tyrosine-protein kinase BTK | Homo sapiens (Human) | EV |
| P51813 | BMX | Cytoplasmic tyrosine-protein kinase BMX | Homo sapiens (Human) | SS |
| P42680 | TEC | Tyrosine-protein kinase Tec | Homo sapiens (Human) | SS |
| P42679 | MATK | Megakaryocyte-associated tyrosine-protein kinase | Homo sapiens (Human) | SS |
| P41240 | CSK | Tyrosine-protein kinase CSK | 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 |
| P48025 | Syk | Tyrosine-protein kinase SYK | Mus musculus (Mouse) | SS |
| P43404 | Zap70 | Tyrosine-protein kinase ZAP-70 | Mus musculus (Mouse) | SS |
| Q00655 | SYK | Tyrosine-protein kinase SYK | Sus scrofa (Pig) | SS |
| Q64725 | Syk | Tyrosine-protein kinase SYK | Rattus norvegicus (Rat) | SS |
| Q9SYA0 | At1g61500 | G-type lectin S-receptor-like serine/threonine-protein kinase At1g61500 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9FG33 | LECRKS5 | Probable L-type lectin-domain containing receptor kinase S.5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| F4JTP5 | STY46 | Serine/threonine-protein kinase STY46 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O22558 | STY8 | Serine/threonine-protein kinase STY8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q2MHE4 | HT1 | Serine/threonine/tyrosine-protein kinase HT1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8RWL6 | STY17 | Serine/threonine-protein kinase STY17 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPDPAAHLPF | FYGSISRAEA | EEHLKLAGMA | DGLFLLRQCL | RSLGGYVLSL | VHDVRFHHFP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IERQLNGTYA | IAGGKAHCGP | AELCEFYSRD | PDGLPCNLRK | PCNRPSGLEP | QPGVFDCLRD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AMVRDYVRQT | WKLEGEALEQ | AIISQAPQVE | KLIATTAHER | MPWYHSSLTR | EEAERKLYSG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AQTDGKFLLR | PRKEQGTYAL | SLIYGKTVYH | YLISQDKAGK | YCIPEGTKFD | TLWQLVEYLK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LKADGLIYCL | KEACPNSSAS | NASGAAAPTL | PAHPSTLTHP | QRRIDTLNSD | GYTPEPARIT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SPDKPRPMPM | DTSVYESPYS | DPEELKDKKL | FLKRDNLLIA | DIELGCGNFG | SVRQGVYRMR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KKQIDVAIKV | LKQGTEKADT | EEMMREAQIM | HQLDNPYIVR | LIGVCQAEAL | MLVMEMAGGG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PLHKFLVGKR | EEIPVSNVAE | LLHQVSMGMK | YLEEKNFVHR | DLAARNVLLV | NRHYAKISDF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GLSKALGADD | SYYTARSAGK | WPLKWYAPEC | INFRKFSSRS | DVWSYGVTMW | EALSYGQKPY |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KKMKGPEVMA | FIEQGKRMEC | PPECPPELYA | LMSDCWIYKW | EDRPDFLTVE | QRMRACYYSL |
| 610 | |||||
| ASKVEGPPGS | TQKAEAACA |