Q13882
Gene name |
PTK6 (BRK) |
Protein name |
Protein-tyrosine kinase 6 |
Names |
Breast tumor kinase, Tyrosine-protein kinase BRK |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5753 |
EC number |
2.7.10.2: Protein-tyrosine kinases |
Protein Class |
TYROSINE-PROTEIN KINASE (PTHR24418) |

Descriptions
Human PTK6 (also known as breast tumor kinase (Brk)) is a non-receptor protein-tyrosine kinase. In normal or non-tumorigenic tissues, PTK6 promotes cellular differentiation and apoptosis. In tumors, PTK6 contributes to cancer progression by sensitizing cells to mitogenic signals and enhancing proliferation, anchorage-independent survival and migration/invasion. PTK6 is composed of SH3, SH2, and catalytic domains. The SH3 domain binds the proline-rich linker region between the SH2 domain and the catalytic domain. The disruption of the interaction enhances the oncogenic property of PTK6. In addition, mutation at SH2 domain of PTK6 resulted in higher catalytic activity. The site plays an important role in its negative regulation of the enzyme activity. Tyr(P) peptide derived from the C-terminal region of PTK6 including Tyr(P)-447 successfully bound to the SH2 domain, supporting the autoinhibitory role of PTK6 protein.
Autoinhibitory domains (AIDs)
Target domain |
191-445 (Protein kinase domain) |
Relief mechanism |
Ligand binding |
Assay |
Structural analysis, Mutagenesis experiment |
Target domain |
171-191 (Linker region between the SH2 domain and the catalytic domain) |
Relief mechanism |
Ligand binding |
Assay |
Mutagenesis experiment, Structural analysis |
Accessory elements
329-352 (Activation loop from InterPro)
Target domain |
191-445 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Hong E et al. (2004) "Solution structure and backbone dynamics of the non-receptor protein-tyrosine kinase-6 Src homology 2 domain", The Journal of biological chemistry, 279, 29700-8
- Ko S et al. (2009) "Structural basis of the auto-inhibition mechanism of nonreceptor tyrosine kinase PTK6", Biochemical and biophysical research communications, 384, 236-42
- Qiu H et al. (2002) "Regulation of the nonreceptor tyrosine kinase Brk by autophosphorylation and by autoinhibition", The Journal of biological chemistry, 277, 34634-41
Autoinhibited structure

Activated structure

9 structures for Q13882
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
1RJA | NMR | - | A | 75-174 | PDB |
2KGT | NMR | - | A | 1-72 | PDB |
5D7V | X-ray | 233 A | A/B/C/D | 185-446 | PDB |
5DA3 | X-ray | 170 A | A | 185-446 | PDB |
5H2U | X-ray | 224 A | A/B/C/D | 185-446 | PDB |
6CZ2 | X-ray | 250 A | A | 182-443 | PDB |
6CZ3 | X-ray | 180 A | A | 182-443 | PDB |
6CZ4 | X-ray | 150 A | A | 182-443 | PDB |
AF-Q13882-F1 | Predicted | AlphaFoldDB |
440 variants for Q13882
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs777792665 RCV000678663 CA409660325 |
356 | P>T | Keratoconus [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
rs757424929 CA9960016 |
2 | V>A | No |
ClinGen ExAC gnomAD |
|
rs757424929 CA317426110 |
2 | V>E | No |
ClinGen ExAC gnomAD |
|
rs1291869539 CA409650898 |
2 | V>L | No |
ClinGen gnomAD |
|
rs1291869539 CA409650899 |
2 | V>M | No |
ClinGen gnomAD |
|
CA409650894 rs1289345903 |
3 | S>T | No |
ClinGen gnomAD |
|
CA9960013 rs377401604 |
4 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs377401604 CA9960012 |
4 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764440367 CA9960014 |
4 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1288779164 CA409650886 |
5 | D>H | No |
ClinGen TOPMed |
|
rs1441545887 CA409650882 |
5 | D>V | No |
ClinGen gnomAD |
|
rs930471507 CA317426089 |
7 | A>G | No |
ClinGen gnomAD |
|
COSM2150039 rs1569014700 CA409650859 |
8 | H>Q | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated Ensembl |
CA317426088 rs779381541 |
9 | L>M | No |
ClinGen TOPMed |
|
CA9960010 rs763010795 |
10 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763010795 CA409650851 |
10 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1162023523 CA409650845 |
11 | P>R | No |
ClinGen gnomAD |
|
CA409650839 rs1200521102 |
12 | K>N | No |
ClinGen TOPMed |
|
rs973208171 CA317426078 |
12 | K>Q | No |
ClinGen Ensembl |
|
rs199502943 CA409650841 |
12 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs199502943 CA9960009 |
12 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1408250590 CA409650824 |
14 | V>A | No |
ClinGen TOPMed gnomAD |
|
CA409650826 rs1408250590 |
14 | V>G | No |
ClinGen TOPMed gnomAD |
|
CA9960008 rs769673576 |
15 | G>D | No |
ClinGen ExAC |
|
rs1452777486 CA409650823 |
15 | G>R | No |
ClinGen TOPMed |
|
rs1468099698 CA409650807 |
17 | W>* | No |
ClinGen gnomAD |
|
rs1270456414 CA409650794 |
19 | F>V | No |
ClinGen gnomAD |
|
rs1199995195 CA409650786 |
20 | K>E | No |
ClinGen gnomAD |
|
rs1200390955 CA409650778 |
21 | S>P | No |
ClinGen Ensembl |
|
rs776091058 CA9960006 |
22 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9960007 rs149831201 |
22 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs139847446 CA9960004 |
23 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs139847446 CA9960003 |
23 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA409650760 rs758695104 |
24 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9960000 rs746185360 |
25 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA409650750 rs1028504421 |
26 | E>* | No |
ClinGen gnomAD |
|
CA317425996 rs1011785686 |
26 | E>A | No |
ClinGen gnomAD |
|
CA317425998 rs1028504421 |
26 | E>K | No |
ClinGen gnomAD |
|
rs1011785686 CA409650748 |
26 | E>V | No |
ClinGen gnomAD |
|
rs779583267 CA409650733 |
28 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9959998 rs374913291 |
30 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9959997 rs754007821 |
30 | R>H | No |
ClinGen ExAC gnomAD |
|
CA9959993 rs142028257 |
31 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9959995 rs201907843 |
31 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9959994 rs201907843 |
31 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9959992 rs142028257 |
31 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs929638114 CA317425940 |
32 | G>E | No |
ClinGen TOPMed gnomAD |
|
rs201488747 CA9959989 |
33 | D>E | No |
ClinGen ExAC gnomAD |
|
CA409650679 rs1267525030 |
33 | D>V | No |
ClinGen TOPMed |
|
rs1188219162 CA409650686 |
33 | D>Y | No |
ClinGen gnomAD |
|
rs141973561 CA9959987 |
34 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
rs919470599 CA317425924 |
35 | F>Y | No |
ClinGen TOPMed |
|
rs148206034 CA409650616 |
36 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9959985 rs757318592 |
37 | V>M | No |
ClinGen ExAC gnomAD |
|
rs1265305922 CA409650603 |
39 | R>G | No |
ClinGen gnomAD |
|
rs1381976366 CA409650601 |
39 | R>T | No |
ClinGen TOPMed |
|
CA9959984 rs566860816 |
40 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1322936894 CA409650589 |
41 | E>K | No |
ClinGen gnomAD |
|
CA9959983 rs551801284 |
42 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs533250243 CA9959981 |
43 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs749796714 CA9959980 |
43 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs1296222113 CA409650571 |
43 | Q>R | No |
ClinGen gnomAD |
|
rs1012845657 CA317425881 |
44 | W>* | No |
ClinGen TOPMed |
|
CA409650567 rs1429106651 |
44 | W>R | No |
ClinGen gnomAD |
|
CA409650550 rs1366706438 |
45 | W>* | No |
ClinGen TOPMed |
|
CA9959979 rs778061555 |
46 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9959978 rs756149302 |
48 | T>M | No |
ClinGen ExAC TOPMed |
|
rs1418764982 CA409650458 |
52 | E>G | No |
ClinGen gnomAD |
|
CA409650464 rs1429070092 |
52 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs765004968 CA409650441 |
53 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765004968 CA9959973 |
53 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764035120 CA9959970 |
55 | G>R | No |
ClinGen ExAC gnomAD |
|
CA409650409 rs760125592 |
56 | A>G | No |
ClinGen ExAC gnomAD |
|
rs760125592 CA9959969 |
56 | A>V | No |
ClinGen ExAC gnomAD |
|
rs771660336 CA9959967 |
57 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA409650377 rs1196333103 |
59 | Q>* | No |
ClinGen TOPMed |
|
CA317425782 rs752341537 |
61 | Y>F | No |
ClinGen TOPMed |
|
rs1037130163 CA317425780 |
62 | V>E | No |
ClinGen TOPMed |
|
rs1213162833 CA409650339 |
62 | V>M | No |
ClinGen gnomAD |
|
rs912565634 CA317425778 |
64 | H>Q | No |
ClinGen gnomAD |
|
CA409650260 rs1249095820 |
67 | L>R | No |
ClinGen gnomAD |
|
CA317425764 rs987171522 |
68 | A>T | No |
ClinGen gnomAD |
|
CA409650244 rs368004687 |
69 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs368004687 CA9959961 |
69 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9959962 rs368004687 |
69 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9959960 rs200350226 |
70 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA9959958 rs755214177 |
71 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA9959957 rs751778467 |
72 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9959955 rs137987106 |
73 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs753580768 CA9959954 |
75 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763957272 CA9959950 |
77 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9959949 rs763957272 |
77 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9959951 rs763957272 |
77 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA409650133 rs1251186162 |
77 | P>S | No |
ClinGen gnomAD |
|
rs775514718 CA9959919 |
78 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs374840053 CA9959920 |
78 | W>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA409649137 rs772329894 |
80 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9959915 rs371338421 |
85 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9959916 rs371338421 |
85 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs146949365 CA9959914 |
85 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA409649107 rs146949365 |
85 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA409649103 rs574498831 |
86 | S>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9959913 rs574498831 |
86 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA409649093 rs1303320172 |
88 | A>T | No |
ClinGen TOPMed |
|
rs202221029 CA9959909 |
88 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs750095520 CA9959907 |
89 | V>A | No |
ClinGen ExAC gnomAD |
|
rs758195609 CA9959908 |
89 | V>M | No |
ClinGen ExAC gnomAD |
|
CA9959906 rs758335320 |
90 | R>C | No |
ClinGen ExAC gnomAD |
|
rs762262372 CA9959905 |
90 | R>H | No |
ClinGen ExAC gnomAD |
|
CA9959903 rs200150366 |
91 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761146317 CA9959902 |
91 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9959904 rs200150366 |
91 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA409649071 rs1406966653 |
93 | Q>* | No |
ClinGen gnomAD |
|
rs747926721 CA317423406 |
93 | Q>R | No |
ClinGen gnomAD |
|
CA9959901 rs775604556 |
94 | A>S | No |
ClinGen ExAC gnomAD |
|
CA317423400 rs927648031 |
94 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA317423381 rs903536480 |
95 | E>K | No |
ClinGen gnomAD |
|
rs1205176174 CA409649044 |
97 | N>I | No |
ClinGen gnomAD |
|
rs367577047 CA317423353 |
98 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs367577047 CA9959898 |
98 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs570303251 CA317423351 |
99 | T>A | No |
ClinGen 1000Genomes |
|
CA9959896 rs748018659 |
99 | T>M | No |
ClinGen ExAC gnomAD |
|
CA9959897 rs748018659 |
99 | T>R | No |
ClinGen ExAC gnomAD |
|
CA409649029 rs1251885865 |
100 | G>V | No |
ClinGen gnomAD |
|
CA9959893 rs150179834 |
101 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA317423332 rs778695622 |
102 | F>V | No |
ClinGen Ensembl |
|
rs757995553 CA9959891 |
104 | I>M | No |
ClinGen ExAC gnomAD |
|
rs374984991 CA9959890 |
106 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
CA9959888 rs754276353 |
108 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9959887 rs754276353 |
108 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9959886 rs764429260 |
109 | K>T | No |
ClinGen ExAC gnomAD |
|
rs546666611 CA9959885 |
110 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs546666611 CA9959884 |
110 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1184772439 CA409648963 |
111 | S>N | No |
ClinGen gnomAD |
|
rs774252880 CA9959880 |
112 | A>V | No |
ClinGen ExAC gnomAD |
|
rs909224996 CA317423182 |
113 | D>H | No |
ClinGen gnomAD |
|
CA409648954 rs909224996 |
113 | D>Y | No |
ClinGen gnomAD |
|
CA9959877 rs776639683 |
114 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1293641513 CA409648946 |
114 | Y>D | No |
ClinGen gnomAD |
|
rs570467678 CA317423181 |
114 | Y>F | No |
ClinGen 1000Genomes gnomAD |
|
rs1272442692 CA409648941 |
115 | V>D | No |
ClinGen TOPMed |
|
CA9959876 rs145627260 |
115 | V>F | No |
ClinGen ESP ExAC TOPMed |
|
rs145627260 CA9959875 |
115 | V>I | No |
ClinGen ESP ExAC TOPMed |
|
rs754079436 CA317423166 |
117 | S>L | No |
ClinGen TOPMed gnomAD |
|
rs140481984 CA9959873 |
117 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9959817 rs757619229 |
118 | V>G | No |
ClinGen ExAC gnomAD |
|
CA409648929 rs976316745 |
118 | V>L | No |
ClinGen Ensembl |
|
CA317423124 rs976316745 |
118 | V>M | No |
ClinGen Ensembl |
|
CA409648478 rs1410257726 |
119 | R>Q | No |
ClinGen gnomAD |
|
CA9959816 rs375933047 |
119 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA409648459 rs1166534162 |
120 | D>G | No |
ClinGen gnomAD |
|
CA409648448 rs1447851809 |
121 | T>A | No |
ClinGen gnomAD |
|
rs914062739 CA317422370 |
121 | T>K | No |
ClinGen TOPMed gnomAD |
|
CA409648442 rs914062739 |
121 | T>M | No |
ClinGen TOPMed gnomAD |
|
rs751325121 CA9959813 |
124 | V>L | No |
ClinGen ExAC gnomAD |
|
CA9959809 rs142305389 |
125 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9959811 rs114992630 |
125 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1426308457 CA409648375 |
128 | K>E | No |
ClinGen TOPMed |
|
CA409648364 rs1195063436 |
129 | I>N | No |
ClinGen gnomAD |
|
rs370344358 CA409648348 |
131 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9959807 rs370344358 |
131 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs761258775 CA9959808 |
131 | R>W | No |
ClinGen ExAC gnomAD |
|
CA9959806 rs768315390 |
132 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747373941 CA9959805 |
132 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770529793 CA317422322 |
133 | A>V | No |
ClinGen gnomAD |
|
CA9959803 rs772765529 |
134 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1387248665 CA409648323 |
135 | G>S | No |
ClinGen gnomAD |
|
CA317422293 rs1019365267 |
136 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs377350675 CA9959802 |
136 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs757424832 CA9959800 |
138 | H>R | No |
ClinGen ExAC gnomAD |
|
CA409648277 rs377406653 |
140 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs148770935 CA9959797 |
141 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs145345355 CA409648265 |
142 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs145345355 CA9959796 |
142 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs750376707 CA9959793 |
144 | S>F | No |
ClinGen ExAC gnomAD |
|
rs1341653650 CA409648241 |
145 | F>S | No |
ClinGen TOPMed gnomAD |
|
rs538487397 CA317422241 |
146 | L>F | No |
ClinGen Ensembl |
|
rs1472451221 CA409648215 |
148 | L>P | No |
ClinGen TOPMed |
|
rs1349782156 CA409648208 |
149 | P>H | No |
ClinGen gnomAD |
|
CA9959792 rs765115063 |
149 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763704391 CA9959789 |
150 | E>A | No |
ClinGen ExAC |
|
rs150072173 CA9959788 |
150 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9959790 rs565530751 |
150 | E>K | No |
ClinGen ExAC gnomAD |
|
CA9959786 rs772567343 |
151 | L>P | No |
ClinGen ExAC gnomAD |
|
CA9959785 rs746176036 |
152 | V>L | No |
ClinGen ExAC |
|
rs1457578319 CA409648182 |
153 | N>D | No |
ClinGen gnomAD |
|
rs140172380 CA317422184 |
157 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
rs1169486629 CA409648127 |
158 | Q>R | No |
ClinGen gnomAD |
|
CA9959783 rs771520165 |
159 | S>G | No |
ClinGen ExAC gnomAD |
|
CA9959782 rs749363732 |
159 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs373140729 CA317422155 |
160 | L>P | No |
ClinGen ESP |
|
CA409648073 rs1408869244 |
161 | S>F | No |
ClinGen TOPMed |
|
CA409648082 rs1481600629 |
161 | S>P | No |
ClinGen gnomAD |
|
rs1268522173 CA409648059 |
162 | H>R | No |
ClinGen gnomAD |
|
CA9959780 rs756347319 |
163 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9959778 rs781336947 |
165 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs145079156 CA9959779 |
165 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs771991525 CA317422105 |
167 | A>P | No |
ClinGen gnomAD |
|
CA409647961 rs750184076 |
168 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750184076 CA9959776 |
168 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9959775 rs61736392 |
168 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1384934478 CA409647938 |
169 | P>R | No |
ClinGen gnomAD |
|
rs1365743533 CA409647917 |
170 | C>* | No |
ClinGen TOPMed gnomAD |
|
CA409647909 rs753348065 |
171 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763657910 CA9959772 |
171 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9959773 rs753348065 |
171 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA409647795 rs753815746 |
173 | H>Q | No |
ClinGen ExAC gnomAD |
|
CA9959754 rs371541793 |
174 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA409647747 rs1275059185 |
176 | E>D | No |
ClinGen TOPMed gnomAD |
|
rs1022404779 CA317421627 |
177 | P>H | No |
ClinGen gnomAD |
|
rs752210834 CA9959752 |
180 | H>L | No |
ClinGen ExAC gnomAD |
|
rs759241674 CA9959750 |
182 | D>N | No |
ClinGen ExAC gnomAD |
|
rs772714640 CA9959749 |
185 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs766759689 CA9959748 |
187 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773793344 CA9959746 |
188 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA409647558 rs1406061232 |
189 | E>D | No |
ClinGen TOPMed gnomAD |
|
CA9959745 rs770161732 |
190 | E>K | No |
ClinGen ExAC gnomAD |
|
rs200799038 CA409647503 |
192 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9959742 rs200799038 |
192 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9959740 rs747229957 |
197 | L>P | No |
ClinGen ExAC TOPMed |
|
CA9959739 rs372528046 |
198 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs770771274 CA9959738 |
199 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777794066 CA9959736 |
200 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9959735 rs755969076 |
202 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA409647271 rs1600935891 |
203 | G>R | No |
ClinGen Ensembl |
|
CA409647225 rs1600935886 |
205 | V>I | No |
ClinGen Ensembl |
|
CA409647198 rs1357378008 |
206 | F>L | No |
ClinGen gnomAD |
|
rs200723492 CA9959731 |
207 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9959732 rs200723492 |
207 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs538512651 CA317421553 |
209 | L>F | No |
ClinGen Ensembl |
|
rs267606054 CA317421532 |
210 | W>* | No |
ClinGen Ensembl |
|
CA9959729 rs763408293 |
210 | W>C | No |
ClinGen ExAC gnomAD |
|
rs569376679 CA317421513 |
211 | K>* | No |
ClinGen gnomAD |
|
CA9959728 rs750723721 |
211 | K>N | No |
ClinGen ExAC gnomAD |
|
rs765826183 CA9959727 |
212 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1389618552 CA409647030 |
213 | R>L | No |
ClinGen TOPMed gnomAD |
|
CA409647038 rs1389618552 |
213 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs1405570524 CA409647042 |
213 | R>W | No |
ClinGen TOPMed gnomAD |
|
rs1240448700 CA409646999 |
215 | Q>* | No |
ClinGen TOPMed |
|
CA409646869 rs1160946830 |
221 | I>V | No |
ClinGen gnomAD |
|
CA9959726 rs762297755 |
222 | S>A | No |
ClinGen ExAC gnomAD |
|
CA317421453 rs1040766082 |
222 | S>F | No |
ClinGen Ensembl |
|
CA9959725 rs553979804 |
223 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs943681215 CA317421443 |
223 | R>P | No |
ClinGen Ensembl |
|
rs1600934842 CA409646609 |
225 | N>T | No |
ClinGen Ensembl |
|
CA9959691 rs757639084 |
228 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs764621665 CA9959689 |
231 | M>K | No |
ClinGen ExAC gnomAD |
|
CA9959688 rs559931657 |
234 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1248954559 CA409646325 |
236 | I>T | No |
ClinGen gnomAD |
|
CA409646286 rs1180368790 |
238 | A>P | No |
ClinGen TOPMed |
|
CA409646280 rs1180368790 |
238 | A>S | No |
ClinGen TOPMed |
|
rs545082053 CA317420169 |
239 | M>I | No |
ClinGen 1000Genomes |
|
CA9959685 rs759591955 |
239 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9959684 rs774447281 |
240 | K>M | No |
ClinGen ExAC gnomAD |
|
CA9959683 rs766670309 |
240 | K>N | No |
ClinGen ExAC gnomAD |
|
rs1441051379 CA409646163 |
242 | L>M | No |
ClinGen TOPMed |
|
rs898499840 CA317420154 |
242 | L>R | No |
ClinGen gnomAD |
|
rs141203356 CA9959680 |
243 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs147379855 CA9959681 |
243 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1296430449 CA409646128 |
244 | H>N | No |
ClinGen gnomAD |
|
rs1569011663 CA409646098 |
244 | H>Q | No |
ClinGen Ensembl |
|
CA409646106 rs1164724326 |
244 | H>R | No |
ClinGen TOPMed |
|
rs746920191 CA9959679 |
246 | H>Q | No |
ClinGen ExAC gnomAD |
|
rs1569011654 CA409646039 |
247 | I>T | No |
ClinGen Ensembl |
|
rs1380753153 CA409646030 |
248 | L>M | No |
ClinGen TOPMed gnomAD |
|
CA9959677 rs775435329 |
249 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771498785 CA9959676 |
250 | L>Q | No |
ClinGen ExAC gnomAD |
|
CA317420119 rs148258053 |
251 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs756868800 CA9959673 |
252 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs921418681 CA317420104 |
252 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs778094424 CA9959671 |
253 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756711218 CA9959670 |
254 | V>A | No |
ClinGen ExAC gnomAD |
|
rs753147867 CA9959669 |
255 | S>T | No |
ClinGen ExAC gnomAD |
|
rs1194557374 CA409645933 |
255 | S>Y | No |
ClinGen TOPMed |
|
rs755034061 CA409645922 |
256 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755034061 CA9959667 |
256 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9959665 rs766758186 |
257 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA409645868 rs1178659509 |
258 | D>N | No |
ClinGen TOPMed |
|
rs1323195605 CA409645814 |
259 | P>R | No |
ClinGen gnomAD |
|
rs370810132 CA9959663 |
259 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs760464024 CA9959661 |
260 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1189275777 CA409644205 |
262 | I>V | No |
ClinGen TOPMed |
|
rs911987241 CA317419955 |
263 | I>S | No |
ClinGen TOPMed gnomAD |
|
rs201712395 CA9959659 |
264 | T>A | No |
ClinGen ExAC gnomAD |
|
rs149543998 CA9959658 |
264 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs149543998 CA409644167 |
264 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA409644104 rs1351898799 |
267 | M>I | No |
ClinGen gnomAD |
|
rs986056991 CA317419913 |
267 | M>V | No |
ClinGen TOPMed |
|
rs1336086959 CA409644082 |
268 | A>V | No |
ClinGen TOPMed |
|
rs1209685896 CA409644045 |
270 | G>D | No |
ClinGen Ensembl |
|
rs770625186 CA9959656 |
274 | E>* | No |
ClinGen ExAC gnomAD |
|
rs748934769 CA9959655 |
277 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA317419906 rs748636967 |
277 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA317419905 rs748636967 |
277 | R>L | No |
ClinGen TOPMed gnomAD |
|
rs1302188313 CA409642884 |
278 | D>A | No |
ClinGen gnomAD |
|
CA9959654 rs770065818 |
278 | D>H | No |
ClinGen ExAC gnomAD |
|
CA9959653 rs770065818 |
278 | D>N | No |
ClinGen ExAC gnomAD |
|
CA317417604 rs376539060 |
280 | D>N | No |
ClinGen ESP TOPMed |
|
rs781608510 CA9959631 |
281 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA317417591 rs1052546202 |
284 | L>P | No |
ClinGen TOPMed gnomAD |
|
CA409642710 rs747527417 |
285 | P>A | No |
ClinGen ExAC gnomAD |
|
CA9959629 rs747527417 |
285 | P>S | No |
ClinGen ExAC gnomAD |
|
rs745905835 CA9959626 |
286 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA409642662 rs1378550327 |
287 | S>L | No |
ClinGen TOPMed gnomAD |
|
rs751512181 CA409641289 |
293 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751512181 CA409641287 |
293 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9959620 rs751512181 |
293 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766253414 CA9959619 |
293 | A>V | No |
ClinGen ExAC gnomAD |
|
rs762479680 CA9959618 |
294 | W>* | No |
ClinGen ExAC gnomAD |
|
rs1418281720 CA409641252 |
295 | Q>* | No |
ClinGen TOPMed |
|
CA409641230 rs1426431185 |
296 | V>A | No |
ClinGen TOPMed |
|
CA9959617 rs772688795 |
296 | V>M | No |
ClinGen ExAC gnomAD |
|
rs764857884 CA9959616 |
298 | E>D | No |
ClinGen ExAC gnomAD |
|
CA317417470 rs751128881 |
299 | G>S | No |
ClinGen Ensembl |
|
rs1390603176 CA409641168 |
300 | M>K | No |
ClinGen TOPMed |
|
CA409641170 rs1231901606 |
300 | M>L | No |
ClinGen gnomAD |
|
rs1390603176 CA409641165 |
300 | M>T | No |
ClinGen TOPMed |
|
rs1231901606 CA409641172 |
300 | M>V | No |
ClinGen gnomAD |
|
rs776081884 CA9959614 |
305 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747333280 CA9959612 |
308 | Y>S | No |
ClinGen ExAC gnomAD |
|
CA409640987 rs1600932042 |
310 | H>P | No |
ClinGen Ensembl |
|
rs757816269 CA9959609 |
311 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs763787101 CA9959610 |
311 | R>W | No |
ClinGen ExAC gnomAD |
|
CA9959608 rs757484266 |
312 | D>H | No |
ClinGen ExAC gnomAD |
|
CA9959607 rs757484266 |
312 | D>N | No |
ClinGen ExAC gnomAD |
|
rs749526666 CA9959606 |
314 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9959604 rs754789545 |
315 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751314030 CA9959603 |
316 | R>G | No |
ClinGen ExAC gnomAD |
|
rs758319981 CA9959601 |
318 | I>T | No |
ClinGen ExAC gnomAD |
|
CA9959599 rs764809002 |
320 | V>I | No |
ClinGen ExAC gnomAD |
|
CA409640839 rs1276990817 |
321 | G>E | No |
ClinGen gnomAD |
|
CA9959597 rs146772563 |
321 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA409640823 rs1313313572 |
322 | E>Q | No |
ClinGen TOPMed |
|
rs763802091 CA9959596 |
323 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775971928 CA9959594 |
325 | L>F | No |
ClinGen ExAC gnomAD |
|
CA409640720 rs1341534402 |
326 | C>Y | No |
ClinGen gnomAD |
|
CA317417292 rs80316561 |
327 | K>E | No |
ClinGen Ensembl |
|
rs746368719 CA9959592 |
328 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9959593 rs772761303 |
328 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9959589 rs150231299 |
332 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9959583 rs779822271 |
337 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9959584 rs369669438 |
337 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs182578992 CA9959552 |
339 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA9959551 rs374047717 |
340 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9959548 rs763366099 |
341 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763366099 CA9959549 |
341 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA409660473 rs1454869486 |
345 | H>R | No |
ClinGen gnomAD |
|
CA9959547 rs773642785 |
346 | D>N | No |
ClinGen ExAC gnomAD |
|
CA9959546 rs532466456 |
347 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1215736207 CA409660408 |
349 | I>M | No |
ClinGen gnomAD |
|
CA9959541 rs768732889 |
351 | Y>* | No |
ClinGen ExAC gnomAD |
|
CA9959542 rs776873617 |
351 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs565400172 CA409660364 |
353 | W>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
rs565400172 CA317474829 |
353 | W>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
rs1229917946 CA409660346 |
354 | T>A | No |
ClinGen gnomAD |
|
rs774007573 CA9959539 |
354 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA409660335 rs1428515280 |
355 | A>T | No |
ClinGen gnomAD |
|
rs1186607901 CA409660318 |
356 | P>R | No |
ClinGen TOPMed |
|
rs777792665 CA9959536 |
356 | P>S | No |
ClinGen ExAC gnomAD |
|
rs368430973 CA9959534 |
358 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9959532 rs754564942 |
359 | L>F | No |
ClinGen ExAC gnomAD |
|
rs543530283 CA9959531 |
361 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766658804 CA9959530 |
361 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA317474782 rs1017638027 |
362 | G>S | No |
ClinGen TOPMed gnomAD |
|
CA9959527 rs200055159 |
363 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs151098954 CA9959528 |
363 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA409660225 rs1307754404 |
364 | Y>* | No |
ClinGen gnomAD |
|
rs1206826625 CA409660235 |
364 | Y>H | No |
ClinGen gnomAD |
|
CA317474768 rs969596794 |
367 | K>E | No |
ClinGen Ensembl |
|
CA317474756 rs140052862 |
369 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
CA9959525 rs200554407 |
370 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA409660164 rs1309678530 |
371 | W>C | No |
ClinGen gnomAD |
|
CA317474750 rs1026355138 |
373 | F>L | No |
ClinGen gnomAD |
|
CA9959524 rs764438690 |
375 | I>V | No |
ClinGen ExAC TOPMed |
|
rs760799474 CA9959523 |
377 | L>R | No |
ClinGen ExAC gnomAD |
|
CA9959522 rs201701939 |
378 | H>R | No |
ClinGen ExAC gnomAD |
|
CA409660126 rs1340419170 |
378 | H>Y | No |
ClinGen TOPMed |
|
rs1231108499 CA409660119 |
379 | E>* | No |
ClinGen TOPMed |
|
rs572731155 CA9959521 |
380 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs552657815 CA9959519 |
382 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1255810927 CA409660084 |
383 | R>S | No |
ClinGen gnomAD |
|
CA317474702 rs934046426 |
386 | V>M | No |
ClinGen TOPMed |
|
rs773312243 CA9959518 |
387 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs550929351 CA317474694 |
389 | P>L | No |
ClinGen gnomAD |
|
rs1329617425 CA409660030 |
390 | G>D | No |
ClinGen gnomAD |
|
CA409660024 rs1600930839 |
391 | M>K | No |
ClinGen Ensembl |
|
CA409659985 rs1287473998 |
396 | A>D | No |
ClinGen gnomAD |
|
rs1467916171 CA409659981 |
397 | F>L | No |
ClinGen gnomAD |
|
CA9959486 rs756175863 |
399 | R>K | No |
ClinGen ExAC gnomAD |
|
CA9959485 rs752790189 |
400 | V>L | No |
ClinGen ExAC gnomAD |
|
CA9959483 rs200692634 |
402 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs576420713 CA9959484 |
402 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs543091157 CA9959481 |
403 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1485895188 CA409659939 |
404 | Y>H | No |
ClinGen gnomAD |
|
CA317474320 rs892610965 |
405 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA409659931 rs1433764079 |
405 | R>H | No |
ClinGen gnomAD |
|
CA409659932 rs892610965 |
405 | R>S | No |
ClinGen TOPMed gnomAD |
|
rs998303469 CA317474306 |
407 | P>A | No |
ClinGen TOPMed |
|
CA317474302 rs965549112 |
407 | P>L | No |
ClinGen TOPMed |
|
rs138646992 CA9959480 |
411 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA409659891 rs1600930782 |
411 | E>G | No |
ClinGen Ensembl |
|
rs776465810 CA9959479 |
413 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776465810 CA409659878 |
413 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1326299859 CA409659879 |
413 | P>S | No |
ClinGen gnomAD |
|
CA9959477 rs554434901 |
414 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA409659865 rs775054676 |
415 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9959475 rs536469490 |
416 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1461047699 CA409659831 |
420 | M>I | No |
ClinGen gnomAD |
|
CA409659825 rs778476657 |
421 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9959473 rs778476657 |
421 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA409659803 rs1295221716 |
424 | W>* | No |
ClinGen TOPMed |
|
rs1475523042 CA409659781 |
427 | D>E | No |
ClinGen gnomAD |
|
rs374216534 CA9959472 |
427 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs144883780 CA409659769 |
429 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA317474252 rs902422650 |
429 | E>G | No |
ClinGen TOPMed |
|
rs201157910 CA9959470 |
429 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA409659757 rs1447760296 |
431 | R>K | No |
ClinGen TOPMed gnomAD |
|
CA409659756 rs1447760296 |
431 | R>T | No |
ClinGen TOPMed gnomAD |
|
CA409659751 rs538978244 |
432 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9959468 rs538978244 |
432 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA409659742 rs1250333003 |
433 | C>F | No |
ClinGen TOPMed |
|
rs370867449 CA317474206 |
435 | K>N | No |
ClinGen Ensembl |
|
rs781417520 CA9959467 |
435 | K>R | No |
ClinGen ExAC gnomAD |
|
CA9959466 rs56145017 VAR_041761 |
436 | A>T | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA9959465 rs369157704 |
437 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs761742593 CA317474187 |
438 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761742593 CA9959463 |
438 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766668416 CA9959464 |
438 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA317474161 rs865792103 |
440 | R>K | No |
ClinGen Ensembl |
|
rs865792103 CA317474180 |
440 | R>M | No |
ClinGen Ensembl |
|
rs115907462 CA9959462 |
441 | L>V | No |
ClinGen 1000Genomes ExAC |
|
rs1406356639 CA409659684 |
443 | S>R | No |
ClinGen TOPMed |
|
rs763997422 CA9959461 |
445 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1456419388 CA409659668 |
446 | S>G | No |
ClinGen TOPMed |
|
CA317474145 rs374160715 |
448 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs767032287 CA9959458 |
448 | E>D | No |
ClinGen ExAC gnomAD |
|
rs374160715 CA9959459 |
448 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1300419422 CA409659642 |
449 | N>K | No |
ClinGen TOPMed |
|
rs61736385 CA9959457 |
450 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs61736385 CA409659636 |
450 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with Q13882
7 regional properties for Q13882
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Protein kinase domain | 14 - 267 | IPR000719 |
domain | POLO box domain | 668 - 711 | IPR000959 |
active_site | Tyrosine-protein kinase, active site | 134 - 146 | IPR008266 |
binding_site | Protein kinase, ATP binding site | 20 - 43 | IPR017441 |
domain | Plk4, C-terminal polo-box domain | 655 - 736 | IPR033696 |
domain | Plk4, second cryptic polo-box domain | 496 - 600 | IPR033698 |
domain | Plk4, first cryptic polo-box domain | 379 - 496 | IPR033699 |
Functions
Description | ||
---|---|---|
EC Number | 2.7.10.2 | Protein-tyrosine kinases |
Subcellular Localization |
|
|
PANTHER Family | PTHR24418 | TYROSINE-PROTEIN KINASE |
PANTHER Subfamily | PTHR24418:SF265 | PROTEIN-TYROSINE KINASE 6 |
PANTHER Protein Class | non-receptor tyrosine protein kinase | |
PANTHER Pathway Category | No pathway information available |
8 GO annotations of cellular component
Name | Definition |
---|---|
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
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. |
nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
ruffle | Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork. |
6 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. |
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. |
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. |
16 GO annotations of biological process
Name | Definition |
---|---|
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. |
cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. |
cellular response to retinoic acid | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a retinoic acid stimulus. |
ERBB2 signaling pathway | The series of molecular signals initiated by binding of a ligand to the tyrosine kinase receptor ERBB2 on the surface of a cell. The pathway ends with regulation of a downstream cellular process, e.g. transcription. ERBB2 receptors are themselves unable to bind to ligands, but act as a signal-amplifying tyrosine kinase within a heterodimeric pair. |
innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
intestinal epithelial cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a columnar/cuboidal epithelial cell of the intestine. |
negative regulation of growth | Any process that stops, prevents or reduces the rate or extent of growth, the increase in size or mass of all or part of an organism. |
negative regulation of protein tyrosine kinase activity | Any process that decreases the rate, frequency, or extent of protein tyrosine kinase activity. |
positive regulation of cell cycle | Any process that activates or increases the rate or extent of progression through the cell cycle. |
positive regulation of epidermal growth factor receptor signaling pathway | Any process that activates or increases the frequency, rate or extent of epidermal growth factor receptor signaling pathway activity. |
positive regulation of neuron projection development | Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
positive regulation of tyrosine phosphorylation of STAT protein | Any process that activates or increases the frequency, rate or extent of the introduction of a phosphate group to a tyrosine residue of a STAT (Signal Transducer and Activator of Transcription) 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). |
protein phosphorylation | The process of introducing a phosphate group on to a protein. |
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. |
tyrosine phosphorylation of STAT protein | The process of introducing a phosphate group to a tyrosine residue of a STAT (Signal Transducer and Activator of Transcription) protein. |
90 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
A0JNB0 | FYN | Tyrosine-protein kinase Fyn | Bos taurus (Bovine) | SS |
Q0VBZ0 | CSK | Tyrosine-protein kinase CSK | Bos taurus (Bovine) | SS |
Q3ZC95 | BTK | Tyrosine-protein kinase | Bos taurus (Bovine) | EV SS |
P42683 | LCK | Proto-oncogene tyrosine-protein kinase LCK | Gallus gallus (Chicken) | SS |
P41239 | CSK | Tyrosine-protein kinase CSK | Gallus gallus (Chicken) | SS |
P00523 | SRC | Proto-oncogene tyrosine-protein kinase Src | Gallus gallus (Chicken) | EV |
Q02977 | YRK | Proto-oncogene tyrosine-protein kinase Yrk | Gallus gallus (Chicken) | SS |
Q8JH64 | BTK | Tyrosine-protein kinase BTK | Gallus gallus (Chicken) | SS |
P09324 | YES1 | Tyrosine-protein kinase Yes | Gallus gallus (Chicken) | SS |
Q05876 | FYN | Tyrosine-protein kinase Fyn | Gallus gallus (Chicken) | SS |
Q75R65 | JAK2 | Tyrosine-protein kinase JAK2 | Gallus gallus (Chicken) | SS |
Q24592 | hop | Tyrosine-protein kinase hopscotch | Drosophila melanogaster (Fruit fly) | PR |
Q9V9J3 | Src42A | Tyrosine-protein kinase Src42A | Drosophila melanogaster (Fruit fly) | SS |
P00528 | Src64B | Tyrosine-protein kinase Src64B | Drosophila melanogaster (Fruit fly) | SS |
P08630 | Btk | Tyrosine-protein kinase Btk | Drosophila melanogaster (Fruit fly) | SS |
P23458 | JAK1 | Tyrosine-protein kinase JAK1 | Homo sapiens (Human) | SS |
O60674 | JAK2 | Tyrosine-protein kinase JAK2 | Homo sapiens (Human) | EV |
P52333 | JAK3 | Tyrosine-protein kinase JAK3 | Homo sapiens (Human) | SS |
P29597 | TYK2 | Non-receptor tyrosine-protein kinase TYK2 | Homo sapiens (Human) | EV |
P43405 | SYK | Tyrosine-protein kinase SYK | Homo sapiens (Human) | EV |
P43403 | ZAP70 | Tyrosine-protein kinase ZAP-70 | 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 |
Q9R117 | Tyk2 | Non-receptor tyrosine-protein kinase TYK2 | Mus musculus (Mouse) | SS |
P08103 | Hck | Tyrosine-protein kinase HCK | Mus musculus (Mouse) | SS |
P16277 | Blk | Tyrosine-protein kinase Blk | Mus musculus (Mouse) | SS |
Q62270 | Srms | Tyrosine-protein kinase Srms | Mus musculus (Mouse) | SS |
P05480 | Src | Proto-oncogene tyrosine-protein kinase Src | Mus musculus (Mouse) | EV |
P14234 | Fgr | Tyrosine-protein kinase Fgr | Mus musculus (Mouse) | SS |
P35991 | Btk | Tyrosine-protein kinase BTK | Mus musculus (Mouse) | EV |
P41241 | Csk | Tyrosine-protein kinase CSK | Mus musculus (Mouse) | EV |
P25911 | Lyn | Tyrosine-protein kinase Lyn | Mus musculus (Mouse) | EV |
Q62137 | Jak3 | Tyrosine-protein kinase JAK3 | Mus musculus (Mouse) | SS |
Q62120 | Jak2 | Tyrosine-protein kinase JAK2 | Mus musculus (Mouse) | EV |
P06240 | Lck | Proto-oncogene tyrosine-protein kinase LCK | Mus musculus (Mouse) | SS |
P24604 | Tec | Tyrosine-protein kinase Tec | Mus musculus (Mouse) | SS |
Q04736 | Yes1 | Tyrosine-protein kinase Yes | Mus musculus (Mouse) | SS |
P39688 | Fyn | Tyrosine-protein kinase Fyn | Mus musculus (Mouse) | SS |
P52332 | Jak1 | Tyrosine-protein kinase JAK1 | Mus musculus (Mouse) | SS |
Q03526 | Itk | Tyrosine-protein kinase ITK/TSK | Mus musculus (Mouse) | SS |
P41242 | Matk | Megakaryocyte-associated tyrosine-protein kinase | Mus musculus (Mouse) | SS |
Q922K9 | Frk | Tyrosine-protein kinase FRK | Mus musculus (Mouse) | SS |
Q64434 | Ptk6 | Protein-tyrosine kinase 6 | Mus musculus (Mouse) | SS |
A1Y2K1 | FYN | Tyrosine-protein kinase Fyn | Sus scrofa (Pig) | SS |
O19064 | JAK2 | Tyrosine-protein kinase JAK2 | Sus scrofa (Pig) | SS |
Q62662 | Frk | Tyrosine-protein kinase FRK | Rattus norvegicus (Rat) | SS |
Q62844 | Fyn | Tyrosine-protein kinase Fyn | Rattus norvegicus (Rat) | SS |
Q07014 | Lyn | Tyrosine-protein kinase Lyn | Rattus norvegicus (Rat) | SS |
P50545 | Hck | Tyrosine-protein kinase HCK | Rattus norvegicus (Rat) | SS |
Q9WUD9 | Src | Proto-oncogene tyrosine-protein kinase Src | Rattus norvegicus (Rat) | SS |
Q01621 | Lck | Proto-oncogene tyrosine-protein kinase LCK | Rattus norvegicus (Rat) | SS |
Q6P6U0 | Fgr | Tyrosine-protein kinase Fgr | Rattus norvegicus (Rat) | SS |
Q62689 | Jak2 | Tyrosine-protein kinase JAK2 | Rattus norvegicus (Rat) | SS |
Q63272 | Jak3 | Tyrosine-protein kinase JAK3 | Rattus norvegicus (Rat) | SS |
P32577 | Csk | Tyrosine-protein kinase CSK | Rattus norvegicus (Rat) | SS |
P41243 | Matk | Megakaryocyte-associated tyrosine-protein kinase | Rattus norvegicus (Rat) | SS |
F1LM93 | Yes1 | Tyrosine-protein kinase Yes | Rattus norvegicus (Rat) | SS |
O45539 | src-2 | Tyrosine protein-kinase src-2 | Caenorhabditis elegans | SS |
G5ECJ6 | csk-1 | Tyrosine-protein kinase csk-1 | Caenorhabditis elegans | SS |
G5EE56 | src-1 | Tyrosine protein-kinase src-1 | Caenorhabditis elegans | SS |
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 |
A1A5H8 | yes1 | Tyrosine-protein kinase yes | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
F1RDG9 | fynb | Tyrosine-protein kinase fynb | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
O12990 | jak1 | Tyrosine-protein kinase JAK1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
Q1JPZ3 | src | Proto-oncogene tyrosine-protein kinase Src | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
Q6EWH2 | fyna | Tyrosine-protein kinase fyna | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MVSRDQAHLG | PKYVGLWDFK | SRTDEELSFR | AGDVFHVARK | EEQWWWATLL | DEAGGAVAQG |
70 | 80 | 90 | 100 | 110 | 120 |
YVPHNYLAER | ETVESEPWFF | GCISRSEAVR | RLQAEGNATG | AFLIRVSEKP | SADYVLSVRD |
130 | 140 | 150 | 160 | 170 | 180 |
TQAVRHYKIW | RRAGGRLHLN | EAVSFLSLPE | LVNYHRAQSL | SHGLRLAAPC | RKHEPEPLPH |
190 | 200 | 210 | 220 | 230 | 240 |
WDDWERPREE | FTLCRKLGSG | YFGEVFEGLW | KDRVQVAIKV | ISRDNLLHQQ | MLQSEIQAMK |
250 | 260 | 270 | 280 | 290 | 300 |
KLRHKHILAL | YAVVSVGDPV | YIITELMAKG | SLLELLRDSD | EKVLPVSELL | DIAWQVAEGM |
310 | 320 | 330 | 340 | 350 | 360 |
CYLESQNYIH | RDLAARNILV | GENTLCKVGD | FGLARLIKED | VYLSHDHNIP | YKWTAPEALS |
370 | 380 | 390 | 400 | 410 | 420 |
RGHYSTKSDV | WSFGILLHEM | FSRGQVPYPG | MSNHEAFLRV | DAGYRMPCPL | ECPPSVHKLM |
430 | 440 | 450 | |||
LTCWCRDPEQ | RPCFKALRER | LSSFTSYENP | T |