Q16512
EV
Gene name |
PKN1 (PAK1, PKN, PRK1, PRKCL1) |
Protein name |
Serine/threonine-protein kinase N1 |
Names |
Protease-activated kinase 1, PAK-1, Protein kinase C-like 1, Protein kinase C-like PKN, Protein kinase PKN-alpha, Protein-kinase C-related kinase 1, Serine-threonine protein kinase N |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5585 |
EC number |
2.7.11.13: Protein-serine/threonine kinases |
Protein Class |
SERINE/THREONINE-PROTEIN KINASE (PTHR24356) |
Descriptions
Serine/threonine-protein kinase N1 (PKN1) is a PKC-related serine/threonine protein kinase involved in specific signal transduction responses such as regulation of intermediate filaments of the actin cytoskeleton, cell migration, tumor cell invasion, and transcription regulation in cells. Its kinase activity is enhanced by fatty acids such as arachidonic acid or the small GTP-binding protein Rho. Residues 455-511 of PKN selectively inhibit the kinase activity of the catalytic fragment of PKN1. Arachidonic acid relieves the catalytic activity of wild-type PKN from autoinhibition by residues 455-511 of PKN.
Autoinhibitory domains (AIDs)
Target domain |
615-874 (Protein kinase domain) |
Relief mechanism |
Ligand binding, PTM |
Assay |
Deletion assay, Split protein assay, Mutagenesis experiment |
Accessory elements
757-780 (Activation loop from InterPro)
Target domain |
615-874 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Yoshinaga C et al. (1999) "Mutational analysis of the regulatory mechanism of PKN: the regulatory region of PKN contains an arachidonic acid-sensitive autoinhibitory domain", Journal of biochemistry, 126, 475-84
- Huang X et al. (2003) "Crystal structure of an inactive Akt2 kinase domain", Structure (London, England : 1993), 11, 21-30
- Truebestein L et al. (2021) "Structure of autoinhibited Akt1 reveals mechanism of PIP(3)-mediated activation", Proceedings of the National Academy of Sciences of the United States of America, 118,
- Lučić I et al. (2018) "Conformational sampling of membranes by Akt controls its activation and inactivation", Proceedings of the National Academy of Sciences of the United States of America, 115, E3940-E3949
Autoinhibited structure
Activated structure
9 structures for Q16512
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1CXZ | X-ray | 220 A | B | 13-98 | PDB |
| 1URF | NMR | - | A | 122-199 | PDB |
| 2RMK | NMR | - | B | 122-199 | PDB |
| 4NKG | X-ray | 290 A | B/D | 122-199 | PDB |
| 4OTD | X-ray | 200 A | A | 605-942 | PDB |
| 4OTG | X-ray | 260 A | A | 605-942 | PDB |
| 4OTH | X-ray | 180 A | A | 605-942 | PDB |
| 4OTI | X-ray | 193 A | A | 605-942 | PDB |
| AF-Q16512-F1 | Predicted | AlphaFoldDB |
826 variants for Q16512
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1335700690 CA404432521 |
2 | A>T | No |
ClinGen TOPMed |
|
|
rs1292041255 CA404432539 |
3 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA404432561 rs1375624564 |
5 | A>S | No |
ClinGen TOPMed |
|
|
CA404433045 rs758864354 |
8 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404433052 rs747566872 |
9 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs777986429 CA9252690 |
9 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1184334587 CA404433047 |
9 | E>K | No |
ClinGen gnomAD |
|
|
CA404433054 rs1163172209 |
10 | P>T | No |
ClinGen gnomAD |
|
|
CA9252692 rs550020976 |
11 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA305668563 rs550020976 |
11 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404433061 rs1436776635 |
11 | R>H | No |
ClinGen gnomAD |
|
|
rs571325285 CA305668570 |
18 | Q>* | No |
ClinGen 1000Genomes |
|
|
rs779745137 CA9252693 |
19 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs748760337 CA9252694 |
20 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1224539575 CA404433151 |
20 | G>R | No |
ClinGen TOPMed |
|
|
rs377566153 CA9252696 |
23 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404433181 rs1288166611 |
23 | G>V | No |
ClinGen TOPMed |
|
|
rs1225790965 CA404433184 |
24 | A>T | No |
ClinGen gnomAD |
|
|
CA404433216 rs771957230 |
27 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771957230 CA404433218 |
27 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1464881576 CA404433215 |
27 | A>T | No |
ClinGen gnomAD |
|
|
rs771957230 CA9252698 |
27 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9252701 rs760608934 |
28 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753937427 CA404433231 |
29 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753937427 CA9252703 |
29 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9252707 rs547606224 |
30 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765228224 CA9252705 |
30 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs765228224 CA9252706 |
30 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA404433254 rs1403281297 |
31 | V>A | No |
ClinGen gnomAD |
|
|
rs1338544412 CA404433248 |
31 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA404433263 rs751935264 |
32 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA9252709 rs751935264 |
32 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1474752973 CA404433281 |
34 | Q>K | No |
ClinGen TOPMed |
|
|
CA404433322 rs1485447628 |
37 | L>R | No |
ClinGen TOPMed |
|
|
rs1199906935 CA404433341 |
39 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9252712 rs781777991 |
39 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746350154 CA9252713 |
40 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA404433363 rs958645159 |
41 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs958645159 CA305668640 |
41 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs754580262 CA9252714 |
41 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9252716 rs747846728 |
43 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA404433374 rs1480606904 |
43 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA9252718 rs374826200 |
44 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9252719 rs746755914 |
44 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9252717 rs374826200 |
44 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404433395 rs1168041542 |
45 | E>D | No |
ClinGen gnomAD |
|
|
CA9252720 rs770690642 |
46 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA9252721 rs566150340 |
46 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404433410 rs1307019363 |
47 | R>C | No |
ClinGen gnomAD |
|
|
rs56373368 CA404433412 |
47 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA305668651 rs56373368 |
47 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA404433419 rs1405905423 |
48 | K>E | No |
ClinGen gnomAD |
|
|
rs1405905423 CA404433416 |
48 | K>Q | No |
ClinGen gnomAD |
|
|
rs1568340073 CA404433427 |
49 | E>K | No |
ClinGen Ensembl |
|
|
CA404433462 rs1285792574 |
52 | L>P | No |
ClinGen gnomAD |
|
|
rs1233093575 CA404433480 |
54 | E>* | No |
ClinGen gnomAD |
|
|
CA9252724 rs765371960 |
58 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA404433544 rs1422319739 |
60 | R>Q | No |
ClinGen TOPMed |
|
|
CA9252725 rs775368223 |
60 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404433556 rs1490463940 |
61 | R>Q | No |
ClinGen gnomAD |
|
|
COSM3692417 COSM3692416 rs763268558 CA9252726 |
61 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs866537231 CA305668659 |
62 | A>T | No |
ClinGen Ensembl |
|
|
CA404433567 rs1201357410 |
62 | A>V | No |
ClinGen gnomAD |
|
|
rs764177304 CA9252727 |
68 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9252728 rs751812641 |
68 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA404433642 rs1599314921 |
69 | S>N | No |
ClinGen Ensembl |
|
|
CA9252730 rs767986066 |
69 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404433656 rs1486159093 |
70 | L>P | No |
ClinGen TOPMed |
|
|
CA404433664 rs1259452854 |
71 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1167625995 CA404433659 |
71 | G>S | No |
ClinGen gnomAD |
|
|
CA404433696 rs1388945924 |
73 | V>A | No |
ClinGen gnomAD |
|
|
rs778487912 CA9252733 |
73 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs954970764 CA305668666 |
74 | E>Q | No |
ClinGen Ensembl |
|
|
CA404433765 rs747570019 |
78 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA9252734 rs747570019 |
78 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA305668668 rs557034730 |
78 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1360464786 CA404433773 |
79 | G>D | No |
ClinGen gnomAD |
|
|
rs983674622 CA305668684 |
81 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA404433812 rs1205703007 |
82 | R>C | No |
ClinGen gnomAD |
|
|
rs777451571 CA9252736 |
82 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777451571 CA404433817 |
82 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1205703007 CA404433809 |
82 | R>S | No |
ClinGen gnomAD |
|
|
rs933464171 CA305668703 |
83 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1187418691 CA404433827 |
83 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1446089359 CA404433841 |
84 | L>P | No |
ClinGen gnomAD |
|
|
CA404433909 rs1416136770 |
88 | H>Q | No |
ClinGen TOPMed |
|
|
rs889292364 CA305668715 |
88 | H>R | No |
ClinGen TOPMed |
|
|
rs1367149469 CA404433918 |
89 | Q>* | No |
ClinGen gnomAD |
|
|
CA404433942 rs1167621424 |
90 | Q>R | No |
ClinGen TOPMed |
|
|
CA404433981 rs1457702614 |
93 | E>K | No |
ClinGen gnomAD |
|
|
rs770772273 CA9252738 |
96 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs770772273 CA404434013 |
96 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs776352285 CA9252739 |
97 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1248525284 CA404434034 |
98 | V>M | No |
ClinGen gnomAD |
|
|
rs1320942100 CA404434074 |
102 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA404434073 rs1320942100 |
102 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA305668734 rs948467882 |
103 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs745812123 CA9252740 |
104 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1304348122 CA404434092 |
105 | A>T | No |
ClinGen TOPMed |
|
|
CA404434100 rs1207964878 |
105 | A>V | No |
ClinGen gnomAD |
|
|
CA9252741 rs769579809 |
106 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1225123960 CA404434108 |
106 | T>I | No |
ClinGen TOPMed |
|
|
rs1225123960 CA404434106 |
106 | T>S | No |
ClinGen TOPMed |
|
|
CA404434114 rs1181425243 |
107 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9252759 rs769613338 |
108 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404434121 rs201628817 |
108 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9252742 rs201628817 |
108 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404434527 rs1206251049 |
111 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs749247875 CA305669710 |
112 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749247875 CA9252761 |
112 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774510114 CA9252763 |
113 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs774510114 CA404434539 |
113 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1344012049 CA404434541 |
114 | G>S | No |
ClinGen TOPMed |
|
|
CA404434550 rs371928270 |
115 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9252764 rs371928270 |
115 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1424626309 CA404434569 |
118 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9252767 rs760992040 |
121 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760992040 CA9252768 |
121 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9252771 rs763599094 |
123 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA9252772 rs751031917 |
124 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751031917 CA305669736 |
124 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404434647 rs1274166751 |
126 | S>N | No |
ClinGen gnomAD |
|
|
rs780875275 CA9252774 |
127 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9252776 rs372099148 COSM1220810 |
127 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs372099148 CA9252775 |
127 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780875275 CA404434655 |
127 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9252778 rs374744301 |
128 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA404434675 rs368909367 |
129 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404434674 rs1222691059 |
129 | A>S | No |
ClinGen gnomAD |
|
|
CA9252779 rs368909367 |
129 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748187817 CA9252781 |
136 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9252782 rs772254067 |
137 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1190620663 CA404434757 |
137 | I>T | No |
ClinGen gnomAD |
|
|
CA404434801 rs1599316707 |
141 | V>G | No |
ClinGen Ensembl |
|
|
COSM991882 rs769391410 COSM1589747 CA9252783 |
145 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs771257533 CA9252785 |
146 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404434853 rs1599316715 |
147 | N>D | No |
ClinGen Ensembl |
|
|
CA9252787 rs760067248 |
148 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324021869 CA404434889 |
149 | I>M | No |
ClinGen TOPMed |
|
|
rs1317970921 CA404434965 |
156 | S>N | No |
ClinGen gnomAD |
|
|
COSM317882 CA404434958 rs1353526918 |
156 | S>R | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs377761310 CA9252814 |
159 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750717632 CA9252815 |
160 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9252816 rs752738462 |
160 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305671142 rs750717632 |
160 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404435474 rs1187020648 |
165 | T>I | No |
ClinGen gnomAD |
|
|
rs200113761 CA9252818 |
167 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200113761 CA9252817 |
167 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404435504 rs1473440914 |
168 | Q>L | No |
ClinGen gnomAD |
|
|
CA9252819 rs556211848 |
169 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9252820 rs202185858 |
170 | L>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1599318655 CA404435552 |
172 | D>G | No |
ClinGen Ensembl |
|
|
CA9252822 rs746089001 |
173 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA404435648 rs1329105444 |
179 | I>V | No |
ClinGen gnomAD |
|
|
CA9252825 rs749804211 |
181 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1011844791 CA305671208 |
181 | R>H | No |
ClinGen TOPMed |
|
|
CA9252826 rs769161984 |
182 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1350434123 CA404435725 |
183 | Q>H | No |
ClinGen gnomAD |
|
|
rs267605306 CA9252828 VAR_042337 COSM21035 |
185 | R>C | a metastatic melanoma sample; somatic mutation skin [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
|
CA404435744 rs267605306 |
185 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770314978 CA9252829 |
185 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1050352249 CA305671251 |
186 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA404435769 rs1482335141 |
187 | A>T | No |
ClinGen TOPMed |
|
|
COSM1589746 COSM991884 CA9252831 rs759249010 |
187 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA305671270 rs112696231 |
189 | Q>* | No |
ClinGen TOPMed |
|
|
CA404435803 rs1250729009 |
189 | Q>H | No |
ClinGen gnomAD |
|
|
rs112696231 CA404435790 |
189 | Q>K | No |
ClinGen TOPMed |
|
|
rs553822326 CA9252833 |
190 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404435821 rs1375485264 |
191 | G>S | No |
ClinGen gnomAD |
|
|
CA404435851 rs1168177020 |
192 | Q>H | No |
ClinGen gnomAD |
|
|
CA404435844 rs1477396477 |
192 | Q>R | No |
ClinGen gnomAD |
|
|
rs1306576115 CA404435897 |
195 | N>K | No |
ClinGen gnomAD |
|
|
CA404435924 rs1287763348 VAR_042338 |
197 | A>E | No |
ClinGen UniProt TOPMed dbSNP |
|
|
rs1387923145 CA404435921 |
197 | A>S | No |
ClinGen gnomAD |
|
|
rs1287763348 CA404435928 |
197 | A>V | No |
ClinGen TOPMed |
|
|
CA305671282 rs761253105 |
198 | A>S | No |
ClinGen Ensembl |
|
|
CA9252838 rs781121850 |
199 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780423688 CA9252841 |
200 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs908223847 CA305671293 |
203 | Q>E | No |
ClinGen Ensembl |
|
|
CA404436000 rs1054308755 |
203 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA305671297 rs1054308755 |
203 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA404435993 rs1270797779 |
203 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA305671302 rs939721070 |
204 | G>R | No |
ClinGen Ensembl |
|
|
CA9252863 rs748701383 |
205 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs978722232 CA305672795 |
205 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1599321170 CA404436749 |
207 | D>A | No |
ClinGen Ensembl |
|
|
rs1400327483 CA404436762 |
209 | G>E | No |
ClinGen gnomAD |
|
|
CA404436766 rs745421577 |
210 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs745421577 CA9252866 |
210 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA404436784 rs1228986985 |
213 | L>M | No |
ClinGen gnomAD |
|
|
CA404436790 rs1269917423 |
214 | R>G | No |
ClinGen gnomAD |
|
|
CA305672803 rs770373043 |
214 | R>H | No |
ClinGen Ensembl |
|
|
rs769398142 CA9252867 |
215 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1207584595 CA404436803 |
216 | E>G | No |
ClinGen gnomAD |
|
|
rs775350737 CA9252868 |
218 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1254584938 CA404436834 |
221 | H>Y | No |
ClinGen gnomAD |
|
|
rs768512052 CA9252870 |
222 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773954469 CA9252871 |
223 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs773954469 CA404436850 |
223 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs924607765 CA305672819 |
226 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1346625229 CA404436884 |
227 | A>G | No |
ClinGen Ensembl |
|
|
CA9252873 rs767390024 |
230 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs767390024 CA404436904 |
230 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA305672830 rs762581193 |
231 | G>V | No |
ClinGen gnomAD |
|
|
rs766445271 CA9252876 |
233 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA404436970 rs1217295997 |
236 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1301447165 CA404436978 |
237 | R>S | No |
ClinGen gnomAD |
|
|
rs1207648775 CA404437004 |
240 | S>G | No |
ClinGen gnomAD |
|
|
CA404437012 rs1255022273 |
240 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs367813415 CA305672849 |
241 | A>V | No |
ClinGen ESP gnomAD |
|
|
CA305672850 rs990696500 |
242 | A>V | No |
ClinGen Ensembl |
|
|
rs755099537 CA9252879 |
243 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA404437047 rs1471899024 |
244 | A>T | No |
ClinGen gnomAD |
|
|
rs765639952 CA9252880 |
244 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs752963905 CA9252881 |
245 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs535215114 CA9252882 |
245 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404437056 rs535215114 |
245 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9252883 rs547358062 |
246 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404437067 rs1377312125 |
246 | D>G | No |
ClinGen gnomAD |
|
|
rs747513157 CA404437072 |
247 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA305672860 rs755741840 |
247 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9252885 rs755741840 |
247 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747513157 CA9252884 |
247 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA404437079 rs1409201089 |
248 | K>E | No |
ClinGen gnomAD |
|
|
rs1045385298 CA305672863 |
248 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs779650993 CA9252886 |
249 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1217001864 CA404437099 |
249 | A>V | No |
ClinGen gnomAD |
|
|
CA9252887 rs748971281 |
250 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA404437108 rs1342447343 |
251 | S>G | No |
ClinGen gnomAD |
|
|
rs768150367 CA9252888 |
251 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA404437109 rs1342447343 |
251 | S>R | No |
ClinGen gnomAD |
|
|
CA305672881 rs568766672 |
252 | E>* | No |
ClinGen 1000Genomes gnomAD |
|
|
rs568766672 CA305672877 |
252 | E>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
rs776795037 CA9252917 |
253 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs776795037 CA404437179 |
253 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA404437187 rs1227158975 |
254 | Q>* | No |
ClinGen gnomAD |
|
|
CA404437232 rs8107892 |
257 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404437230 rs8107892 |
257 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763207797 CA9252921 |
259 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764554866 CA9252922 |
260 | S>C | No |
ClinGen ExAC TOPMed |
|
|
rs764554866 CA404437260 |
260 | S>F | No |
ClinGen ExAC TOPMed |
|
|
CA305673145 rs908499643 |
261 | N>H | No |
ClinGen TOPMed |
|
|
rs751928991 CA9252923 |
261 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404437277 rs1446640653 |
262 | Q>R | No |
ClinGen gnomAD |
|
|
CA404437289 rs1468688950 |
263 | K>N | No |
ClinGen TOPMed |
|
|
rs1188501011 CA404437283 |
263 | K>Q | No |
ClinGen gnomAD |
|
|
rs762429293 CA9252924 |
264 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA404437300 rs1187181548 |
265 | G>E | No |
ClinGen gnomAD |
|
|
CA305673155 rs964082607 |
265 | G>R | No |
ClinGen Ensembl |
|
|
CA9252925 rs767954296 |
266 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA9252926 rs750915489 |
268 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750915489 CA9252928 |
268 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9252927 rs750915489 |
268 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1387274447 CA404437323 |
269 | E>Q | No |
ClinGen gnomAD |
|
|
rs1335760664 CA404437366 |
273 | R>W | No |
ClinGen gnomAD |
|
|
CA404437383 rs1599321806 |
274 | R>S | No |
ClinGen Ensembl |
|
|
rs757980795 CA9252930 |
275 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs922277081 CA404437399 |
276 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs922277081 CA305673168 |
276 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs932387668 CA305673170 |
279 | P>S | No |
ClinGen TOPMed |
|
|
rs777576540 CA404437441 |
281 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs777576540 CA9252931 |
281 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1230707071 CA404437454 |
282 | H>Y | No |
ClinGen gnomAD |
|
|
CA9252932 rs746758027 |
283 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1201294040 CA404437497 |
286 | R>Q | No |
ClinGen gnomAD |
|
|
CA9252933 rs770728505 |
286 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1440864923 CA404437505 |
287 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA404437516 rs1209912720 |
289 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs745803101 CA9252935 |
290 | E>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1646910 COSM709792 CA9252934 rs781056624 |
290 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs775570392 CA9252937 |
293 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs140044731 CA9252938 |
294 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774687939 CA9252940 |
295 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA404437588 rs1271723561 |
296 | S>A | No |
ClinGen TOPMed |
|
|
rs904676760 CA305673203 |
296 | S>F | No |
ClinGen TOPMed |
|
|
CA9252941 rs762312775 |
297 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404437600 rs762312775 |
297 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305673208 rs1053358148 |
298 | A>G | No |
ClinGen TOPMed |
|
|
rs767923193 CA9252942 |
298 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1412287531 CA404437614 |
299 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs528742822 CA305673213 |
299 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9252943 rs528742822 |
299 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404437612 rs1412287531 |
299 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA404437630 rs1335289417 |
301 | S>I | No |
ClinGen gnomAD |
|
|
CA404437633 rs1335289417 |
301 | S>N | No |
ClinGen gnomAD |
|
|
CA9252944 rs761189520 |
302 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305673215 rs957169488 |
302 | T>P | No |
ClinGen Ensembl |
|
|
CA9252945 rs764659991 |
303 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1170061033 CA404437649 |
303 | R>H | No |
ClinGen TOPMed |
|
|
CA305673219 rs892019896 |
305 | A>D | No |
ClinGen TOPMed |
|
|
rs1233755103 CA404437665 |
305 | A>S | No |
ClinGen gnomAD |
|
|
CA404437679 rs1599321944 |
306 | G>E | No |
ClinGen Ensembl |
|
|
rs1483902587 CA404437671 |
306 | G>R | No |
ClinGen gnomAD |
|
|
rs1202991059 CA404437686 |
307 | P>L | No |
ClinGen gnomAD |
|
|
CA9252947 rs758070481 |
309 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs910117108 CA404437709 |
310 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA305673232 rs910117108 |
310 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs763785251 CA9252948 |
310 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA305673237 rs905886939 |
311 | T>A | No |
ClinGen TOPMed |
|
|
rs377087609 CA9252949 |
311 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305673245 rs1027732937 |
312 | H>L | No |
ClinGen TOPMed |
|
|
CA305673248 rs952538932 |
313 | Y>C | No |
ClinGen TOPMed |
|
|
CA305673253 rs867943505 |
316 | L>M | No |
ClinGen Ensembl |
|
|
CA9252952 rs755902578 |
317 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9252953 rs547218291 |
317 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1247754373 CA404437813 |
320 | A>T | No |
ClinGen TOPMed |
|
|
rs774785867 CA9252957 |
321 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1015382270 CA305673278 |
321 | P>S | No |
ClinGen TOPMed |
|
|
CA404437907 rs1269416705 |
325 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1269416705 CA404437906 |
325 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9252974 rs779081221 |
327 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772298530 CA9252976 |
329 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772298530 CA404437942 |
329 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404437944 rs1416366136 |
329 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA404437945 rs1416366136 |
329 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs560950919 CA9252977 |
331 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404437958 rs1446341192 |
331 | V>M | No |
ClinGen TOPMed |
|
|
rs370510341 CA9252979 |
335 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305673657 rs1009872181 |
336 | L>F | No |
ClinGen TOPMed |
|
|
CA404438007 rs1009872181 |
336 | L>V | No |
ClinGen TOPMed |
|
|
rs777180206 CA9252980 |
339 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA404438032 rs1288490149 |
340 | I>V | No |
ClinGen gnomAD |
|
|
rs544790726 CA9252981 |
341 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA305673661 rs529506613 |
341 | P>S | No |
ClinGen 1000Genomes |
|
|
rs373725067 CA9252983 |
343 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9252984 rs562897038 |
346 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404438071 rs1356460836 |
346 | P>S | No |
ClinGen TOPMed |
|
|
CA404438085 rs1310300620 |
348 | M>I | No |
ClinGen TOPMed |
|
|
CA9252986 rs773869914 |
348 | M>K | No |
ClinGen Ensembl |
|
|
CA404438081 rs200118271 |
348 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9252985 rs200118271 |
348 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404438089 rs1314598009 |
349 | G>E | No |
ClinGen gnomAD |
|
|
rs371572915 CA9252988 |
349 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA404438092 rs1237932410 |
350 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs760580853 CA9252989 |
351 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs766266677 CA9252990 |
352 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs867653770 CA305673692 |
354 | P>Q | No |
ClinGen Ensembl |
|
|
rs754898770 CA9252992 |
354 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs886917587 CA305673694 |
356 | S>G | No |
ClinGen Ensembl |
|
|
CA305673696 rs940131082 |
357 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs779167474 CA9252994 |
357 | R>H | No |
ClinGen ExAC TOPMed |
|
|
rs779167474 CA9252993 |
357 | R>L | No |
ClinGen ExAC TOPMed |
|
|
CA9252997 rs199540215 |
358 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9252998 rs199540215 |
358 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368371989 CA9253000 |
359 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368371989 CA305673725 |
359 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368371989 CA305673722 |
359 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9252999 rs771298002 |
359 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA404438154 rs1236427587 |
361 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA404438160 rs1374621408 |
362 | S>N | No |
ClinGen gnomAD |
|
|
rs1410416306 CA404438162 |
362 | S>R | No |
ClinGen gnomAD |
|
|
rs746404416 CA9253001 |
363 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs201757832 CA9253002 |
363 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9253003 rs201757832 |
363 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404438180 rs771747736 |
366 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771747736 CA404438179 |
366 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771747736 CA9253005 |
366 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9253004 rs370691590 |
366 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9253007 rs772979519 |
367 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404438182 rs1313594752 |
367 | G>S | No |
ClinGen gnomAD |
|
|
CA9253006 rs772979519 |
367 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9253008 rs766284791 |
370 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753648611 CA9253009 |
371 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374599245 CA404438209 |
371 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374599245 CA9253010 |
371 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1479915302 CA404438218 |
373 | G>R | No |
ClinGen gnomAD |
|
|
CA404438228 rs1350487396 |
374 | S>N | No |
ClinGen TOPMed |
|
|
CA404438253 rs1176701026 |
376 | S>I | No |
ClinGen gnomAD |
|
|
rs758571813 CA9253013 |
378 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs752546646 CA9253012 |
378 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599322776 CA404438275 |
379 | S>G | No |
ClinGen Ensembl |
|
|
CA404438285 rs1599322782 |
379 | S>R | No |
ClinGen Ensembl |
|
|
CA404438293 rs1394302079 |
380 | S>I | No |
ClinGen gnomAD |
|
|
CA9253015 rs777656490 |
383 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305673773 rs907457882 |
385 | A>T | No |
ClinGen Ensembl |
|
|
CA404438348 rs1441308398 |
386 | E>K | No |
ClinGen gnomAD |
|
|
CA9253018 rs781557652 |
387 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1369088910 CA404438741 |
388 | T>S | No |
ClinGen gnomAD |
|
|
CA9253020 rs201306704 |
389 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9253019 rs201306704 |
389 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs909259718 CA305678147 |
391 | V>I | No |
ClinGen TOPMed |
|
|
rs539424004 CA9253037 |
393 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404439378 rs749809942 |
394 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9253039 rs749809942 |
394 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9253040 rs755402180 |
397 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404439408 rs755402180 |
397 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404439413 rs1272552019 |
398 | D>Y | No |
ClinGen gnomAD |
|
|
CA9253041 rs777367648 |
401 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305678163 rs972532809 |
403 | G>E | No |
ClinGen TOPMed |
|
|
CA9253043 rs770536702 |
403 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305678159 rs770536702 |
403 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404439490 rs1182196571 |
405 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9253044 rs200116263 |
405 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1568347280 CA404439501 |
406 | S>F | No |
ClinGen Ensembl |
|
|
CA305678175 rs918452640 |
407 | W>G | No |
ClinGen TOPMed |
|
|
CA404439529 rs1474150678 |
409 | P>T | No |
ClinGen gnomAD |
|
|
rs775108151 CA9253047 |
410 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461439179 CA404439545 |
411 | G>D | No |
ClinGen TOPMed |
|
|
CA404439551 rs1211619479 |
412 | P>L | No |
ClinGen gnomAD |
|
|
CA9253048 rs762968134 |
413 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9253064 rs775185266 |
426 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201725818 CA404439689 |
427 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404439691 rs1351600908 |
427 | R>Q | No |
ClinGen gnomAD |
|
|
rs201725818 CA9253065 |
427 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404439715 rs1379281752 |
429 | L>P | No |
ClinGen TOPMed |
|
|
rs768491295 CA9253066 |
430 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs774326783 CA9253067 |
431 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220027511 CA404439752 |
433 | V>L | No |
ClinGen gnomAD |
|
|
rs556203841 CA305678262 |
436 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9253070 rs556203841 |
436 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9253069 VAR_042339 rs35132656 |
436 | R>W | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA404439793 rs773239404 |
437 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA9253071 rs773239404 |
437 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA404439815 rs760983411 |
439 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9253073 rs766562919 |
439 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9253072 rs760983411 |
439 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201677950 CA305678288 |
440 | G>A | No |
ClinGen Ensembl |
|
|
rs1231812863 CA404439859 |
444 | L>F | No |
ClinGen gnomAD |
|
|
CA404439865 rs1568347369 |
444 | L>P | No |
ClinGen Ensembl |
|
|
rs1175104107 CA404439869 |
445 | K>E | No |
ClinGen gnomAD |
|
|
CA305678291 rs753405289 |
445 | K>R | No |
ClinGen gnomAD |
|
|
CA9253075 rs200431354 |
448 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1434021866 CA404439952 |
452 | F>L | No |
ClinGen gnomAD |
|
|
rs1397856538 CA404439978 |
455 | N>D | No |
ClinGen gnomAD |
|
|
CA305678300 rs962140336 |
455 | N>S | No |
ClinGen TOPMed |
|
|
CA9253076 rs765686330 |
457 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs199522318 CA9253079 |
464 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9253080 rs749949485 |
466 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA9253082 rs779635494 |
469 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9253081 rs755618268 |
469 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs755618268 CA404440125 |
469 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA9253083 rs748952818 |
472 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs765702818 CA9253096 |
474 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599330212 CA404440406 |
475 | T>P | No |
ClinGen Ensembl |
|
|
rs763385125 CA9253098 |
477 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9253099 rs764738379 |
477 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9253101 rs374269098 |
481 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404440471 rs1373030184 |
481 | I>V | No |
ClinGen gnomAD |
|
|
CA9253103 rs753433939 |
486 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs779556987 CA9253102 |
486 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1261822320 CA404440547 COSM395690 |
488 | R>* | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA9253105 rs778705567 |
488 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771827189 CA9253107 |
493 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA305680953 rs267605307 |
495 | S>F | No |
ClinGen Ensembl |
|
|
rs1237870058 CA404440716 |
501 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA305681023 rs371885982 |
501 | A>V | No |
ClinGen ESP TOPMed |
|
|
CA9253127 rs144549826 |
504 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs377340991 CA9253128 |
504 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377340991 CA404440754 |
504 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404440763 rs1568349859 |
505 | A>V | No |
ClinGen Ensembl |
|
|
CA305681036 rs1044800349 COSM1480680 |
510 | I>V | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1218715376 CA404440823 |
511 | D>N | No |
ClinGen gnomAD |
|
|
CA9253133 rs369017663 |
513 | A>T | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1395499644 CA404440861 |
514 | T>M | No |
ClinGen gnomAD |
|
|
CA9253135 rs762252915 |
516 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs762252915 CA404440882 |
516 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1374783563 CA404440890 |
517 | R>W | No |
ClinGen gnomAD |
|
|
rs56273055 VAR_042340 CA9253136 |
520 | R>Q | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
CA9253138 rs759116733 |
525 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA305681073 rs200813056 |
525 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200813056 CA9253139 |
525 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404440989 rs1278553748 |
527 | T>M | No |
ClinGen gnomAD |
|
|
rs1599330488 CA404440999 |
528 | G>V | No |
ClinGen Ensembl |
|
|
CA305681083 rs967032314 |
529 | T>P | No |
ClinGen TOPMed |
|
|
CA404441021 rs1253191988 |
531 | T>A | No |
ClinGen gnomAD |
|
|
rs763827649 CA9253142 |
531 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA9253144 rs756968570 |
534 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs903724556 CA305681117 |
535 | G>E | No |
ClinGen Ensembl |
|
|
CA404441052 rs1191519376 |
536 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA305681144 rs866196352 |
539 | G>E | No |
ClinGen Ensembl |
|
|
rs76430604 CA305681133 |
539 | G>R | No |
ClinGen Ensembl |
|
|
CA9253147 rs549309092 |
541 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404441080 rs549309092 |
541 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs369267115 CA9253149 COSM1390951 |
543 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs780211446 CA9253148 |
543 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9253151 rs778984148 |
544 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA305681150 rs1016041326 |
544 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
COSM3403829 CA9253153 COSM3403828 rs772324227 |
545 | T>M | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1298411122 CA404441109 |
546 | G>A | No |
ClinGen gnomAD |
|
|
rs571387629 CA305681260 |
547 | D>G | No |
ClinGen 1000Genomes gnomAD |
|
|
CA9253177 rs377710323 |
548 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370436156 CA9253179 |
549 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761300805 CA9253178 |
549 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs750190968 CA404441149 |
551 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750190968 CA9253180 |
551 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766462582 CA9253182 |
554 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs760521822 CA9253181 |
554 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs34309238 CA9253184 |
555 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404441173 rs1304595113 |
555 | L>H | No |
ClinGen TOPMed |
|
|
rs34309238 CA9253183 VAR_042341 RCV000950841 |
555 | L>I | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9253186 rs752968299 |
556 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370720650 CA9253187 |
559 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370720650 CA404441199 |
559 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404441209 rs1352680891 |
561 | S>G | No |
ClinGen gnomAD |
|
|
CA9253191 rs573436454 |
561 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9253192 rs746302568 |
562 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA9253193 rs768215691 |
563 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs199619025 CA9253194 |
566 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9253198 rs114585039 |
568 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9253197 rs202016982 |
568 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404441258 rs766266773 |
569 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9253199 rs766266773 |
569 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs776647702 CA9253200 |
570 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1174594299 CA404441269 |
571 | P>S | No |
ClinGen gnomAD |
|
|
CA305681364 rs903111578 |
575 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA404441309 rs1278030109 |
577 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs570878605 CA9253235 |
578 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs570878605 CA305685116 |
578 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760582458 CA9253236 |
579 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9253238 rs186530287 |
580 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1428534528 CA404441335 |
580 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9253241 rs768754514 |
581 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs774361713 CA9253242 |
582 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA404441349 rs1288305755 |
582 | Q>R | No |
ClinGen TOPMed |
|
|
rs761855515 CA9253243 |
583 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA404441370 rs1209625215 |
585 | T>I | No |
ClinGen gnomAD |
|
|
rs1192102421 CA404441389 |
588 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs761006104 CA9253246 |
588 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404441398 rs1262620105 |
590 | P>S | No |
ClinGen gnomAD |
|
|
rs754404338 CA9253248 |
591 | S>L | No |
ClinGen ExAC TOPMed |
|
|
rs1366940668 CA404441416 |
593 | T>A | No |
ClinGen gnomAD |
|
|
CA404441418 rs1199958469 |
593 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1457590437 CA404441424 |
594 | Q>P | No |
ClinGen gnomAD |
|
|
CA9253251 rs777447422 |
595 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA404441444 rs1417826645 |
597 | P>A | No |
ClinGen gnomAD |
|
|
CA9253253 rs751164574 |
597 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1233307588 CA404441450 |
598 | G>D | No |
ClinGen TOPMed |
|
|
CA404441459 rs1309882232 |
599 | P>L | No |
ClinGen gnomAD |
|
|
CA404441456 rs1416108728 |
599 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM3822112 COSM3822113 rs373897527 CA9253256 |
600 | A>T | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs769479289 CA9253257 |
600 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA404441492 rs1327913491 |
603 | S>I | No |
ClinGen TOPMed |
|
|
rs368203519 CA9253273 |
604 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766982449 CA404441568 |
608 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA9253274 rs766982449 |
608 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs750071253 CA9253275 |
609 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA305685363 rs1037160586 |
613 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs372299413 CA9253277 |
615 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749121722 CA9253278 |
616 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs754762763 CA9253279 |
617 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404441674 rs1173832854 |
619 | A>V | No |
ClinGen gnomAD |
|
|
CA9253281 rs748023139 |
620 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs773303512 CA404441705 |
623 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773303512 CA9253283 |
623 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9253282 rs567970117 |
623 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1389095391 CA404441709 |
624 | G>S | No |
ClinGen Ensembl |
|
|
rs778613904 CA9253298 |
629 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA9253302 COSM1589739 COSM991897 rs747156720 |
633 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA404441858 rs35416389 |
635 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9253304 rs35416389 VAR_042342 |
635 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs539281070 CA9253303 |
635 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9253306 rs748119182 |
637 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9253308 rs763200252 |
637 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9253307 rs748119182 |
637 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404441878 rs1313318050 |
637 | S>R | No |
ClinGen TOPMed |
|
|
rs769245659 CA9253309 |
639 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs760288479 CA305685572 |
642 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760288479 CA9253311 |
642 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375402696 CA9253313 |
643 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404441947 rs1187973957 |
644 | K>T | No |
ClinGen gnomAD |
|
|
rs1419571823 CA404441961 |
645 | A>V | No |
ClinGen gnomAD |
|
|
CA9253314 rs369475877 |
647 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305685577 rs935593006 |
647 | K>Q | No |
ClinGen Ensembl |
|
|
CA404442002 rs1163193538 |
649 | G>A | No |
ClinGen gnomAD |
|
|
rs1454801994 CA404442010 |
650 | D>G | No |
ClinGen gnomAD |
|
|
rs765039723 CA9253315 |
650 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765039723 CA404442008 |
650 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758102154 CA9253317 |
651 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300624441 CA404442019 |
651 | I>V | No |
ClinGen gnomAD |
|
|
rs1212097000 CA404442031 |
652 | V>L | No |
ClinGen TOPMed |
|
|
rs201070234 CA9253318 |
653 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404442041 rs1293915484 |
653 | A>V | No |
ClinGen gnomAD |
|
|
CA404442044 rs1226798664 |
654 | R>* | No |
ClinGen gnomAD |
|
|
CA305685607 rs762602389 |
654 | R>Q | No |
ClinGen TOPMed |
|
|
rs758287258 CA404442059 |
655 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317329138 CA404442060 |
656 | E>K | No |
ClinGen gnomAD |
|
|
CA404442071 rs1599333720 |
657 | V>G | No |
ClinGen Ensembl |
|
|
rs757428793 CA9253320 |
657 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9253344 rs200587135 |
660 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9253345 rs780380412 |
661 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9253346 rs549209369 |
665 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1333510553 CA404442144 |
665 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA404442157 rs1263494875 |
667 | L>S | No |
ClinGen gnomAD |
|
|
CA9253349 rs748677557 |
668 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA404442171 rs1234703685 |
669 | A>V | No |
ClinGen gnomAD |
|
|
rs772617275 CA9253350 |
670 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1342716581 CA404442177 |
671 | T>A | No |
ClinGen gnomAD |
|
|
CA9253351 rs773677778 |
672 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA9253353 rs377601503 |
673 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs899464569 CA305686805 |
673 | A>S | No |
ClinGen TOPMed |
|
|
rs377601503 CA9253354 |
673 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774060675 CA9253357 |
674 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs761664998 CA9253358 |
674 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA404442199 rs1568352507 |
675 | H>Y | No |
ClinGen Ensembl |
|
|
rs1411499408 CA404442239 |
681 | L>V | No |
ClinGen TOPMed |
|
|
rs373941894 CA404442250 |
682 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756275103 CA9253361 |
683 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9253362 rs766300791 |
684 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1168844118 CA404442259 |
684 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1399775333 CA404442271 |
685 | F>L | No |
ClinGen gnomAD |
|
|
CA9253363 rs571142613 |
686 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9253364 rs755107825 |
687 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9253365 rs188188103 |
688 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404442286 rs1329339061 |
688 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs370703472 CA9253367 |
689 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs200283627 CA9253370 |
691 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200283627 COSM1589737 CA9253369 COSM991901 |
691 | V>M | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA404442320 rs1335000713 |
693 | F>S | No |
ClinGen gnomAD |
|
|
rs779191008 CA9253372 |
694 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs950837815 CA305686938 |
697 | Y>C | No |
ClinGen TOPMed |
|
|
rs774139335 CA9253374 |
698 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267605308 CA305686960 |
699 | A>V | No |
ClinGen gnomAD |
|
|
CA9253377 rs773285517 |
700 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765445694 CA9253382 |
706 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs374351452 CA305687013 |
706 | H>R | No |
ClinGen ESP |
|
|
CA404442403 rs1325385631 |
706 | H>Y | No |
ClinGen TOPMed |
|
|
CA305687023 rs1033806917 |
707 | I>V | No |
ClinGen Ensembl |
|
|
CA404442428 rs752905619 |
709 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9253384 rs758779422 |
710 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367610820 CA404442436 |
711 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9253385 rs367610820 |
711 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767485927 CA9253386 |
712 | F>* | No |
ClinGen ExAC |
|
|
CA9253387 rs747548970 |
712 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1287388040 CA404442453 |
713 | S>F | No |
ClinGen gnomAD |
|
|
rs757750579 CA9253388 |
714 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA404442465 rs1262551569 |
715 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs781699829 CA9253389 |
715 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372153011 CA9253390 |
716 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM181403 rs1189842712 CA404442470 |
716 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA9253391 rs768195232 |
717 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200712076 CA305687059 |
718 | I>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200712076 CA9253393 |
718 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2230539 CA9253392 VAR_042343 |
718 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs776451070 CA9253417 |
719 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA404442492 rs1298097419 |
719 | F>L | No |
ClinGen gnomAD |
|
|
rs776451070 CA404442497 |
719 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1267980653 CA404442511 |
721 | S>C | No |
ClinGen gnomAD |
|
|
CA404442512 rs1345917467 |
722 | A>T | No |
ClinGen gnomAD |
|
|
rs192773170 CA9253419 |
724 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1172414346 CA404442533 |
725 | V>L | No |
ClinGen gnomAD |
|
|
CA404442538 rs762986073 |
726 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1297960611 CA404442542 |
727 | G>S | No |
ClinGen gnomAD |
|
|
rs764364219 CA9253422 |
729 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404442557 rs1200577455 |
729 | Q>R | No |
ClinGen TOPMed |
|
|
CA404442567 rs1389006638 |
730 | F>L | No |
ClinGen gnomAD |
|
|
CA404442568 rs751789278 |
731 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751789278 CA9253423 |
731 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9253424 rs372941917 |
732 | H>Y | No |
ClinGen ESP ExAC |
|
|
rs1260255876 CA404442583 |
733 | E>G | No |
ClinGen gnomAD |
|
|
rs750924376 CA9253426 |
733 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9253427 rs756638704 |
734 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA9253428 rs370875924 |
734 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757979289 CA9253430 |
737 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404442617 rs1568352901 |
738 | Y>C | No |
ClinGen Ensembl |
|
|
CA305687749 rs966372042 |
745 | N>S | No |
ClinGen gnomAD |
|
|
rs777283599 CA9253465 |
747 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs755904537 CA9253472 |
751 | E>D | No |
ClinGen ExAC |
|
|
rs767254243 CA9253470 |
751 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767254243 CA9253471 |
751 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404442718 rs1378953999 |
751 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1000917900 CA305687774 |
753 | Y>C | No |
ClinGen Ensembl |
|
|
CA404442733 rs1176870580 |
754 | V>I | No |
ClinGen gnomAD |
|
|
CA9253474 rs753794373 |
755 | K>R | No |
ClinGen ExAC |
|
|
rs141472160 CA404442752 |
756 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9253476 rs200208099 |
757 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404442777 rs1407510141 |
760 | G>V | No |
ClinGen Ensembl |
|
|
rs1343840357 CA404442797 |
763 | K>R | No |
ClinGen TOPMed |
|
|
CA9253478 rs772032189 |
764 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9253499 rs192067276 |
768 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9253500 rs192067276 |
768 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404442862 rs200545401 |
771 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9253502 rs200545401 |
771 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9253501 rs200621192 |
771 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9253504 rs771632260 |
773 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9253505 rs772756160 |
773 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA404442878 rs1165993303 |
774 | T>A | No |
ClinGen gnomAD |
|
|
CA9253506 rs760146714 |
779 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1247336749 CA404442959 |
786 | V>A | No |
ClinGen TOPMed |
|
|
rs149980109 CA9253509 |
786 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1383776461 CA404442964 |
787 | L>P | No |
ClinGen TOPMed |
|
|
CA9253510 rs764876072 |
788 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9253512 rs758222841 |
789 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA305688058 COSM1390955 rs372869100 |
790 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
rs751733182 CA9253514 |
791 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1490001282 COSM1220811 CA404443001 |
793 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1176266542 CA404443004 |
794 | R>Q | No |
ClinGen TOPMed |
|
|
rs1439910100 CA404443009 |
795 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs780230893 CA9253519 |
795 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767321092 CA305688095 |
799 | W>* | No |
ClinGen Ensembl |
|
|
rs1372670599 CA404443053 |
801 | L>R | No |
ClinGen gnomAD |
|
|
CA9253521 rs769189947 |
806 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA404443093 rs1568353286 |
808 | M>V | No |
ClinGen Ensembl |
|
|
rs770371761 CA9253524 |
811 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1311733958 CA404443135 |
813 | S>T | No |
ClinGen TOPMed |
|
|
rs1173841445 CA404443146 |
814 | P>L | No |
ClinGen gnomAD |
|
|
CA404443143 rs1467096570 |
814 | P>S | No |
ClinGen gnomAD |
|
|
rs1006533321 CA305688544 |
816 | P>L | No |
ClinGen Ensembl |
|
|
rs1404827342 CA404443157 |
816 | P>S | No |
ClinGen gnomAD |
|
|
CA404443173 rs1376240447 |
818 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1332457768 CA404443166 |
818 | D>N | No |
ClinGen gnomAD |
|
|
rs779209231 CA9253561 |
819 | D>E | No |
ClinGen ExAC TOPMed |
|
|
CA9253563 rs753226357 |
820 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs758955037 CA9253565 |
824 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404443218 rs1225362648 |
825 | D>H | No |
ClinGen gnomAD |
|
|
CA404443226 rs1261497153 |
826 | S>G | No |
ClinGen gnomAD |
|
|
CA9253568 rs779590344 |
828 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599336170 CA404443250 |
829 | N>T | No |
ClinGen Ensembl |
|
|
rs768590761 CA9253570 |
830 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404443270 rs1184315995 |
832 | V>F | No |
ClinGen TOPMed |
|
|
CA404443268 rs1184315995 |
832 | V>I | No |
ClinGen TOPMed |
|
|
rs778245258 CA9253572 |
833 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM438726 CA404443277 rs370730517 |
833 | R>H | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA9253573 rs370730517 |
833 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1599336200 CA404443281 |
834 | Y>S | No |
ClinGen Ensembl |
|
|
rs538893103 CA9253576 |
836 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9253577 rs554283113 |
836 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9253578 rs759707355 |
837 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404443313 rs1281439671 |
839 | S>L | No |
ClinGen gnomAD |
|
|
rs758760946 CA305688643 |
841 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758760946 CA9253583 |
841 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9253584 rs778205535 |
842 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA9253586 rs755606989 |
844 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9253587 rs376844590 |
845 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768460357 CA404443354 |
846 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768460357 CA9253589 |
846 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9253588 rs368609999 |
846 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs958978136 CA305688691 |
848 | R>T | No |
ClinGen Ensembl |
|
|
CA404443393 rs1303256509 |
851 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs776548225 CA9253615 |
851 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1160398863 CA404443406 |
853 | N>S | No |
ClinGen TOPMed |
|
|
rs1377011458 CA404443411 |
854 | P>T | No |
ClinGen TOPMed |
|
|
CA9253619 rs763182110 |
856 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9253618 rs775698464 |
856 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1316008864 CA404443444 |
859 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9253623 rs768194617 |
860 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462948389 CA404443454 |
861 | S>N | No |
ClinGen gnomAD |
|
|
rs750900458 CA305688947 |
861 | S>R | No |
ClinGen ExAC TOPMed |
|
|
rs1182062009 CA404443466 |
863 | R>G | No |
ClinGen gnomAD |
|
|
rs754539172 CA9253626 |
865 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754539172 CA404443481 |
865 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324929845 CA404443485 |
865 | A>V | No |
ClinGen TOPMed |
|
|
rs1179078177 CA404443506 |
868 | V>G | No |
ClinGen gnomAD |
|
|
rs966216895 CA305688956 |
871 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9253630 rs777262534 |
872 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA9253631 rs777262534 |
872 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs370253592 CA9253629 |
872 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1390957 CA404443550 rs1400998844 |
875 | R>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA404443553 rs1470939456 |
875 | R>T | No |
ClinGen TOPMed |
|
|
rs767138769 CA9253670 |
876 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1360996331 CA404443576 |
877 | L>Q | No |
ClinGen gnomAD |
|
|
CA9253671 rs535289557 |
878 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755902245 CA9253672 |
880 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9253673 rs780047978 |
881 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264332252 CA404443601 |
881 | A>V | No |
ClinGen gnomAD |
|
|
rs750281951 CA9253675 |
882 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs778818768 CA9253676 |
884 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9253677 rs371337694 |
885 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9253678 rs371337694 |
885 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404443631 rs1288299805 |
885 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1349566414 COSM1220814 CA404443639 |
886 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1349566414 CA404443638 |
886 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1454474856 CA404443640 |
886 | R>H | No |
ClinGen gnomAD |
|
|
CA9253680 rs747443618 |
889 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs777206326 CA9253682 |
890 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA404443672 rs1384904654 |
890 | P>T | No |
ClinGen gnomAD |
|
|
rs1288506077 CA404443701 |
893 | P>L | No |
ClinGen gnomAD |
|
|
rs746308814 CA9253683 COSM3692422 COSM3692421 |
894 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA305689876 rs746308814 |
894 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768240080 CA9253684 |
895 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs761303615 CA9253686 |
897 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9253688 rs772787073 |
898 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs10846 CA9253692 VAR_014937 |
901 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs10846 CA404443757 |
901 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1026482043 CA305689918 |
902 | S>R | No |
ClinGen Ensembl |
|
|
CA404443797 rs1456573623 |
905 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1343590881 CA404443789 |
905 | D>N | No |
ClinGen gnomAD |
|
|
rs1337138104 CA404443798 |
906 | E>K | No |
ClinGen gnomAD |
|
|
CA404443799 rs1337138104 |
906 | E>Q | No |
ClinGen gnomAD |
|
|
rs1009753333 CA305689938 |
910 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1009753333 CA404443833 |
910 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA404443849 rs1283472675 |
911 | E>D | No |
ClinGen gnomAD |
|
|
rs1304501247 CA404443864 |
913 | P>L | No |
ClinGen gnomAD |
|
|
CA404443860 rs1224899907 |
913 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9253694 rs752881421 |
914 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA9253695 rs752881421 |
914 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs757659440 CA9253698 |
916 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs781368072 CA9253699 |
917 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781368072 CA404443893 |
917 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776064748 CA9253702 |
918 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176946750 CA404443897 |
918 | P>H | No |
ClinGen gnomAD |
|
|
CA9253703 rs747665497 |
919 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452527175 COSM3692423 CA404443906 COSM3692424 |
919 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA9253705 rs772874847 |
920 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771516281 CA9253704 |
920 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA404443909 rs1333432263 |
920 | D>H | No |
ClinGen gnomAD |
|
|
rs1333432263 CA404443911 |
920 | D>N | No |
ClinGen gnomAD |
|
|
rs1349536932 CA404443920 |
921 | A>E | No |
ClinGen gnomAD |
|
|
CA404443915 rs1295925176 |
921 | A>T | No |
ClinGen gnomAD |
|
|
CA404443926 rs915560490 |
922 | R>L | No |
ClinGen gnomAD |
|
|
rs915560490 CA305690044 |
922 | R>Q | No |
ClinGen gnomAD |
|
|
CA9253708 rs776339754 |
922 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs541727627 CA9253709 |
923 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1217768384 CA404443930 |
923 | P>S | No |
ClinGen gnomAD |
|
|
rs752613488 CA9253711 |
925 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA9253712 rs758562421 |
926 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404443963 rs751857493 |
927 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs542456712 CA404443961 |
927 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9253716 rs542456712 |
927 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9253717 rs751857493 |
927 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420197909 CA404443976 |
929 | Q>E | No |
ClinGen gnomAD |
|
|
rs781467217 CA9253719 |
929 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs750823948 CA9253720 |
930 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404443987 rs1369425434 |
930 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9253722 rs780554647 |
931 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9253723 rs749748800 |
931 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA404444020 rs1599337876 |
934 | D>V | No |
ClinGen Ensembl |
|
|
rs1039035769 CA305690081 |
936 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA404444034 rs1039035769 |
936 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs777305335 CA9253726 |
938 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777305335 CA305690082 |
938 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9253728 rs770548002 |
940 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305690125 rs552681054 |
941 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9253730 rs552681054 |
941 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs552681054 CA9253729 |
941 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1341547546 CA404444083 |
942 | C>W | No |
ClinGen gnomAD |
|
|
rs769572610 CA9253731 |
943 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q16512
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.13 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR24356 | SERINE/THREONINE-PROTEIN KINASE |
| PANTHER Subfamily | PTHR24356:SF246 | SERINE_THREONINE-PROTEIN KINASE N1 |
| PANTHER Protein Class |
non-receptor serine/threonine protein kinase
protein modifying enzyme |
|
| PANTHER Pathway Category |
Alzheimer disease-amyloid secretase pathway PKC Muscarinic acetylcholine receptor 1 and 3 signaling pathway PKC |
|
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| cleavage furrow | The cleavage furrow is a plasma membrane invagination at the cell division site. The cleavage furrow begins as a shallow groove and eventually deepens to divide the cytoplasm. |
| 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. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| midbody | A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis. |
| 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. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
15 GO annotations of molecular function
| Name | Definition |
|---|---|
| androgen receptor binding | Binding to a nuclear androgen receptor. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| calcium-dependent protein kinase C activity | Calcium-dependent catalysis of the reaction: ATP + a protein = ADP + a phosphoprotein. |
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| histone binding | Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription. |
| histone deacetylase binding | Binding to histone deacetylase. |
| histone kinase activity (H3-T11 specific) | Catalysis of the transfer of a phosphate group to the threonine-11 residue of the N-terminal tail of histone H3. |
| nuclear receptor coactivator activity | A transcription coactivator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound nuclear receptor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
| protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
| protein kinase C activity | Catalysis of the reaction: ATP + a protein = ADP + a phosphoprotein. This reaction requires diacylglycerol. |
| protein kinase C binding | Binding to protein kinase C. |
| protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
| protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
| 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. |
| small GTPase binding | Binding to a small monomeric GTPase. |
19 GO annotations of biological process
| Name | Definition |
|---|---|
| B cell apoptotic process | Any apoptotic process in a B cell, a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. |
| B cell homeostasis | The process of regulating the proliferation and elimination of B cells such that the total number of B cells within a whole or part of an organism is stable over time in the absence of an outside stimulus. |
| chromatin organization | The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA. |
| epithelial cell migration | The orderly movement of an epithelial cell from one site to another, often during the development of a multicellular organism. |
| histone H3-T11 phosphorylation | OBSOLETE. The modification of histone H3 by the addition of an phosphate group to a threonine residue at position 11 of the histone. |
| hyperosmotic response | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of detection of, or exposure to, a hyperosmotic environment, i.e. an environment with a higher concentration of solutes than the organism or cell. |
| 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 regulation of B cell proliferation | Any process that stops, prevents or reduces the rate or extent of B cell proliferation. |
| negative regulation of protein kinase activity | Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase activity. |
| peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of androgen receptor signaling pathway | Any process that modulates the rate, frequency, or extent of the androgen receptor signaling pathway. |
| regulation of cell motility | Any process that modulates the frequency, rate or extent of cell motility. |
| regulation of germinal center formation | Any process that modulates the frequency, rate, or extent of germinal center formation. |
| regulation of immunoglobulin production | Any process that modulates the frequency, rate, or extent of immunoglobulin production. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| renal system process | A organ system process carried out by any of the organs or tissues of the renal system. The renal system maintains fluid balance, and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels; in other species, the renal system may comprise related structures (e.g., nephrocytes and malpighian tubules in Drosophila). |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| spleen development | The process whose specific outcome is the progression of the spleen over time, from its formation to the mature structure. The spleen is a large vascular lymphatic organ composed of white and red pulp, involved both in hemopoietic and immune system functions. |
40 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P24583 | PKC1 | Protein kinase C-like 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | SS |
| A1A4I4 | PKN1 | Serine/threonine-protein kinase N1 | Bos taurus (Bovine) | SS |
| P83099 | Pkcdelta | Putative protein kinase C delta type homolog | Drosophila melanogaster (Fruit fly) | PR |
| A1Z7T0 | Pkn | Serine/threonine-protein kinase N | Drosophila melanogaster (Fruit fly) | SS |
| Q96LW2 | RSKR | Ribosomal protein S6 kinase-related protein | Homo sapiens (Human) | PR |
| O15530 | PDPK1 | 3-phosphoinositide-dependent protein kinase 1 | Homo sapiens (Human) | EV |
| Q05513 | PRKCZ | Protein kinase C zeta type | Homo sapiens (Human) | SS |
| P41743 | PRKCI | Protein kinase C iota type | Homo sapiens (Human) | EV |
| Q6P5Z2 | PKN3 | Serine/threonine-protein kinase N3 | Homo sapiens (Human) | SS |
| Q16513 | PKN2 | Serine/threonine-protein kinase N2 | Homo sapiens (Human) | EV |
| P24723 | PRKCH | Protein kinase C eta type | Homo sapiens (Human) | SS |
| Q02156 | PRKCE | Protein kinase C epsilon type | Homo sapiens (Human) | SS |
| Q04759 | PRKCQ | Protein kinase C theta type | Homo sapiens (Human) | PR |
| Q05655 | PRKCD | Protein kinase C delta type | Homo sapiens (Human) | SS |
| P17252 | PRKCA | Protein kinase C alpha type | Homo sapiens (Human) | EV |
| P05129 | PRKCG | Protein kinase C gamma type | Homo sapiens (Human) | SS |
| P05771 | PRKCB | Protein kinase C beta type | Homo sapiens (Human) | SS |
| P31751 | AKT2 | RAC-beta serine/threonine-protein kinase | Homo sapiens (Human) | EV SS |
| P31749 | AKT1 | RAC-alpha serine/threonine-protein kinase | Homo sapiens (Human) | EV |
| Q9Y243 | AKT3 | RAC-gamma serine/threonine-protein kinase | Homo sapiens (Human) | SS |
| Q96BR1 | SGK3 | Serine/threonine-protein kinase Sgk3 | Homo sapiens (Human) | SS |
| Q9HBY8 | SGK2 | Serine/threonine-protein kinase Sgk2 | Homo sapiens (Human) | SS |
| O00141 | SGK1 | Serine/threonine-protein kinase Sgk1 | Homo sapiens (Human) | PR |
| Q15208 | STK38 | Serine/threonine-protein kinase 38 | Homo sapiens (Human) | EV |
| Q9Y2H1 | STK38L | Serine/threonine-protein kinase 38-like | Homo sapiens (Human) | EV |
| Q6A1A2 | PDPK2P | Putative 3-phosphoinositide-dependent protein kinase 2 | Homo sapiens (Human) | PR |
| P23298 | Prkch | Protein kinase C eta type | Mus musculus (Mouse) | PR |
| Q02111 | Prkcq | Protein kinase C theta type | Mus musculus (Mouse) | PR |
| P16054 | Prkce | Protein kinase C epsilon type | Mus musculus (Mouse) | PR |
| P28867 | Prkcd | Protein kinase C delta type | Mus musculus (Mouse) | PR |
| Q8BWW9 | Pkn2 | Serine/threonine-protein kinase N2 | Mus musculus (Mouse) | SS |
| Q8K045 | Pkn3 | Serine/threonine-protein kinase N3 | Mus musculus (Mouse) | SS |
| P70268 | Pkn1 | Serine/threonine-protein kinase N1 | Mus musculus (Mouse) | SS |
| Q64617 | Prkch | Protein kinase C eta type | Rattus norvegicus (Rat) | PR |
| P09216 | Prkce | Protein kinase C epsilon type | Rattus norvegicus (Rat) | PR |
| P09215 | Prkcd | Protein kinase C delta type | Rattus norvegicus (Rat) | PR |
| O08874 | Pkn2 | Serine/threonine-protein kinase N2 | Rattus norvegicus (Rat) | SS |
| Q63433 | Pkn1 | Serine/threonine-protein kinase N1 | Rattus norvegicus (Rat) | SS |
| P34722 | tpa-1 | Protein kinase C-like 1 | Caenorhabditis elegans | PR |
| A7MBL8 | pkn2 | Serine/threonine-protein kinase N2 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASDAVQSEP | RSWSLLEQLG | LAGADLAAPG | VQQQLELERE | RLRREIRKEL | KLKEGAENLR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RATTDLGRSL | GPVELLLRGS | SRRLDLLHQQ | LQELHAHVVL | PDPAATHDGP | QSPGAGGPTC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SATNLSRVAG | LEKQLAIELK | VKQGAENMIQ | TYSNGSTKDR | KLLLTAQQML | QDSKTKIDII |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RMQLRRALQA | GQLENQAAPD | DTQGSPDLGA | VELRIEELRH | HFRVEHAVAE | GAKNVLRLLS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AAKAPDRKAV | SEAQEKLTES | NQKLGLLREA | LERRLGELPA | DHPKGRLLRE | ELAAASSAAF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| STRLAGPFPA | THYSTLCKPA | PLTGTLEVRV | VGCRDLPETI | PWNPTPSMGG | PGTPDSRPPF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LSRPARGLYS | RSGSLSGRSS | LKAEAENTSE | VSTVLKLDNT | VVGQTSWKPC | GPNAWDQSFT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LELERARELE | LAVFWRDQRG | LCALKFLKLE | DFLDNERHEV | QLDMEPQGCL | VAEVTFRNPV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IERIPRLRRQ | KKIFSKQQGK | AFQRARQMNI | DVATWVRLLR | RLIPNATGTG | TFSPGASPGS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EARTTGDISV | EKLNLGTDSD | SSPQKSSRDP | PSSPSSLSSP | IQESTAPELP | SETQETPGPA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LCSPLRKSPL | TLEDFKFLAV | LGRGHFGKVL | LSEFRPSGEL | FAIKALKKGD | IVARDEVESL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| MCEKRILAAV | TSAGHPFLVN | LFGCFQTPEH | VCFVMEYSAG | GDLMLHIHSD | VFSEPRAIFY |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SACVVLGLQF | LHEHKIVYRD | LKLDNLLLDT | EGYVKIADFG | LCKEGMGYGD | RTSTFCGTPE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| FLAPEVLTDT | SYTRAVDWWG | LGVLLYEMLV | GESPFPGDDE | EEVFDSIVND | EVRYPRFLSA |
| 850 | 860 | 870 | 880 | 890 | 900 |
| EAIGIMRRLL | RRNPERRLGS | SERDAEDVKK | QPFFRTLGWE | ALLARRLPPP | FVPTLSGRTD |
| 910 | 920 | 930 | 940 | ||
| VSNFDEEFTG | EAPTLSPPRD | ARPLTAAEQA | AFLDFDFVAG | GC |