Q9BYT3
PR
Gene name |
STK33 |
Protein name |
Serine/threonine-protein kinase 33 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:65975 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
264-288 (Activation loop from InterPro)
Target domain |
116-381 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
1 structures for Q9BYT3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BYT3-F1 | Predicted | AlphaFoldDB |
448 variants for Q9BYT3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA16603114 rs1057520013 RCV002244867 COSM84046 COSM2221145 |
323 | F>L | Neoplasm of the pancreas pancreas [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs146489886 CA5872649 |
3 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778553128 CA5872648 |
4 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA379580195 rs1231443906 |
5 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA379580159 rs1201052424 |
7 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA379580152 rs1269501659 |
8 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 9 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749187537 CA5872646 |
10 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA217479744 rs922599902 |
12 | K>E | No |
ClinGen Ensembl |
|
|
rs777266084 CA5872645 |
14 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA5872642 rs371938474 |
15 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5872643 rs752187725 |
15 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752187725 CA379580058 |
15 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754553102 CA5872641 |
16 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs374660732 CA379580017 |
18 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374660732 CA5872640 |
18 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379580016 rs1302001528 |
19 | A>T | No |
ClinGen gnomAD |
|
|
rs1403566309 CA379580009 |
19 | A>V | No |
ClinGen gnomAD |
|
|
rs1048413238 CA217479719 |
22 | K>T | No |
ClinGen TOPMed |
|
|
CA379579961 rs1484735540 CA379579963 |
23 | D>E | No |
ClinGen TOPMed |
|
|
CA217479714 rs867101241 |
23 | D>N | No |
ClinGen Ensembl |
|
|
rs867101241 CA217479711 |
23 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1400533306 CA379579954 |
24 | V>A | No |
ClinGen gnomAD |
|
|
rs200896679 CA5872638 |
26 | C>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA217479697 rs933526990 |
27 | V>E | No |
ClinGen TOPMed |
|
|
CA5872637 rs754338855 |
28 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA379579890 rs1428606462 |
30 | S>G | No |
ClinGen gnomAD |
|
|
CA5872636 rs764685494 |
31 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs760906000 CA5872635 |
32 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1446276760 CA379579824 |
36 | P>S | Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs759631232 CA5872632 |
39 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1221176197 CA379579766 |
41 | E>G | No |
ClinGen gnomAD |
|
|
CA5872629 rs749234196 |
41 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1449781975 CA379579745 |
42 | M>I | No |
ClinGen TOPMed |
|
|
rs368557393 CA217479654 |
48 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5872627 rs200278563 |
49 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1430448144 CA379579675 |
49 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs144113279 CA217479647 |
50 | S>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs747695561 CA5872625 |
51 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5872624 rs148873011 |
51 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779349616 CA379579633 |
52 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5872622 rs746601399 |
52 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs757754526 CA5872620 |
53 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA379579588 rs1009232962 |
57 | L>P | No |
ClinGen TOPMed |
|
|
rs1009232962 CA217479637 |
57 | L>R | No |
ClinGen TOPMed |
|
|
rs1240075534 CA379579580 |
58 | E>G | No |
ClinGen gnomAD |
|
|
rs1461451489 CA379579570 |
59 | R>G | No |
ClinGen gnomAD |
|
|
rs764740597 CA5872618 |
59 | R>K | Variant assessed as Somatic; 4.661e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
VAR_061746 CA217479631 rs60786172 |
60 | K>E | No |
ClinGen UniProt 1000Genomes TOPMed dbSNP gnomAD |
|
|
rs756669560 CA5872617 |
62 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 63 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs757255639 | 64 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs757255639 | 64 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs570390366 CA5872616 |
64 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA379579495 rs1360532961 |
65 | I>T | No |
ClinGen gnomAD |
|
|
rs145784235 CA5872612 |
66 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759813960 CA5872613 |
66 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs766606403 CA5872611 |
67 | R>G | No |
ClinGen ExAC |
|
|
CA5872610 rs762799574 |
70 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs772957571 CA379579441 |
70 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5872609 rs772957571 |
70 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1225829079 CA379579428 |
71 | S>F | No |
ClinGen gnomAD |
|
|
CA379579396 rs1409259497 |
74 | D>A | No |
ClinGen gnomAD |
|
|
rs1169830996 CA379579401 |
74 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1471549057 CA597323129 |
77 | S>* | No |
ClinGen gnomAD |
|
|
CA5872580 rs768634610 |
77 | S>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1000718172 CA217479141 |
78 | R>K | No |
ClinGen TOPMed |
|
|
CA379579320 rs1259069513 |
78 | R>S | No |
ClinGen gnomAD |
|
|
CA379579317 rs1210968689 |
79 | T>S | No |
ClinGen gnomAD |
|
|
CA597323127 rs1485180491 |
80 | S>* | No |
ClinGen gnomAD |
|
| TCGA novel | 83 | E>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1253819165 CA379579279 |
84 | R>S | No |
ClinGen gnomAD |
|
|
CA379579274 rs1378184172 |
85 | K>R | No |
ClinGen TOPMed |
|
|
rs201654109 CA217479138 |
86 | A>V | No |
ClinGen 1000Genomes |
|
|
CA379579261 rs1289993481 |
87 | S>C | No |
ClinGen gnomAD |
|
|
rs1565119495 CA379579249 |
89 | Q>* | No |
ClinGen Ensembl |
|
|
CA379579231 rs1306611139 |
91 | W>S | No |
ClinGen gnomAD |
|
|
rs775044596 CA5872578 |
92 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs201709884 CA5872576 |
93 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771875782 CA5872577 |
93 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379579218 rs1227112979 |
94 | G>S | No |
ClinGen TOPMed |
|
|
CA379579213 rs1274710184 |
94 | G>V | No |
ClinGen TOPMed |
|
|
CA5872575 rs540171660 |
95 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs34525052 CA5872571 VAR_041172 |
98 | E>D | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA5872572 rs781613188 |
98 | E>G | No |
ClinGen ExAC |
|
|
rs748527809 CA5872573 |
98 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs940325833 CA217479115 |
101 | V>L | No |
ClinGen TOPMed |
|
|
CA217479112 rs929226610 |
102 | P>L | No |
ClinGen TOPMed |
|
|
CA5872570 rs751636788 |
102 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5872568 rs758648739 |
104 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs780057565 CA5872569 |
104 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs908800822 CA217479098 |
105 | R>K | No |
ClinGen gnomAD |
|
|
CA379579118 rs1207229910 |
109 | G>E | No |
ClinGen gnomAD |
|
|
CA379579121 rs1245556015 |
109 | G>R | No |
ClinGen TOPMed |
|
|
rs201014130 CA5872566 |
110 | A>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 110 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379579109 rs1392118961 |
111 | A>T | No |
ClinGen Ensembl |
|
|
rs149798299 CA5872563 |
112 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5872562 rs371945784 |
112 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs149798299 CA5872564 |
112 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379579097 rs1283953047 |
113 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1432695610 CA379579074 |
114 | E>D | No |
ClinGen gnomAD |
|
|
rs763906449 CA379579071 |
115 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5872535 rs763906449 |
115 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756007543 CA5872534 |
116 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 117 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5872533 rs752619898 |
120 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA5872532 rs767544224 |
123 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs759187732 CA5872531 |
126 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482639230 CA379578992 |
127 | F>L | No |
ClinGen TOPMed |
|
|
rs1188055281 CA379578983 |
128 | G>* | No |
ClinGen gnomAD |
|
|
rs1200458555 CA379578980 |
128 | G>E | No |
ClinGen TOPMed |
|
|
rs989323119 CA217476668 |
131 | I>F | No |
ClinGen TOPMed |
|
|
CA5872530 rs773972171 |
131 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765999762 CA5872529 |
132 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA217476667 rs936512474 |
133 | A>T | No |
ClinGen TOPMed |
|
|
rs55931211 CA5872528 |
133 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA217476664 rs978186265 |
134 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA379578943 rs1275160813 |
135 | D>Y | No |
ClinGen gnomAD |
|
|
rs1196481359 CA379578932 |
136 | K>R | No |
ClinGen gnomAD |
|
|
rs867053141 COSM1703574 CA217476662 COSM1703575 |
137 | E>K | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA5872524 rs145679616 |
139 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377716389 CA5872525 |
139 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199852553 CA5872522 COSM76622 COSM1357482 |
140 | T>M | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA217476648 rs200711004 |
141 | K>R | No |
ClinGen 1000Genomes |
|
|
CA379578895 rs1338358096 |
142 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 145 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379578864 rs1565086507 |
146 | K>R | No |
ClinGen Ensembl |
|
| rs1485973228 | 147 | V>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1330282810 CA379578859 |
147 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 147 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1391500628 CA379578850 |
148 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA217475939 rs372895148 |
152 | A>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs774416927 CA5872503 |
154 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA5872502 rs770982159 |
154 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA217475936 rs942543336 |
155 | S>A | No |
ClinGen TOPMed |
|
|
rs749311549 CA5872501 |
156 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA5872499 rs778120140 |
158 | K>M | No |
ClinGen ExAC |
|
|
rs769880796 CA5872498 |
159 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs78051809 COSM1357478 CA217475929 COSM1357479 |
160 | L>P | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| VAR_041173 | 160 | L>V | a lung large cell carcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA5872497 rs748009822 |
162 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283287069 CA379578749 |
162 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA217475927 rs1030616857 |
164 | V>A | No |
ClinGen Ensembl |
|
|
CA379578735 rs1030616857 |
164 | V>G | No |
ClinGen Ensembl |
|
|
rs1434749287 CA379578725 |
166 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs199904183 CA5872495 |
168 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379578695 rs1400291789 |
170 | V>A | No |
ClinGen gnomAD |
|
|
CA379578676 rs1315041009 |
173 | E>Q | No |
ClinGen TOPMed |
|
|
rs779445224 CA379578661 |
175 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5872493 rs779445224 |
175 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779445224 CA217475920 |
175 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5872492 rs369943323 |
176 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379578646 rs1477000426 |
177 | H>R | No |
ClinGen gnomAD |
|
|
rs749897973 CA5872491 |
177 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs988797655 CA217475916 |
179 | E>* | No |
ClinGen TOPMed |
|
|
CA5872490 rs186194677 |
180 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761405379 CA5872489 |
183 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5872487 rs753091197 |
184 | T>M | Variant assessed as Somatic; 4.726e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774977191 CA5872484 |
186 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA5872483 rs774977191 |
186 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1312585042 CA379578590 |
186 | K>R | No |
ClinGen TOPMed |
|
|
rs1232963283 CA379582718 |
188 | M>I | No |
ClinGen gnomAD |
|
|
CA5872460 rs766962225 |
188 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1179601755 CA379582723 |
188 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA379582690 rs1249612593 |
192 | M>I | No |
ClinGen TOPMed |
|
|
rs147530377 CA217519139 |
195 | C>F | No |
ClinGen ESP |
|
|
rs1354832426 CA379582660 |
196 | E>D | No |
ClinGen gnomAD |
|
|
rs1482376157 CA379582658 |
197 | D>N | No |
ClinGen gnomAD |
|
|
CA5872458 rs773374779 |
198 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5872457 rs765343705 |
200 | L>R | No |
ClinGen ExAC |
|
|
rs199943275 CA5872456 |
201 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371394045 CA5872455 |
201 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA217519116 rs371394045 |
201 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM222199 rs539759431 COSM222200 CA5872454 |
202 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs201729740 CA5872452 |
205 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1307506410 CA379582604 |
205 | D>V | No |
ClinGen gnomAD |
|
|
CA217519099 rs141539888 |
206 | R>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5872451 rs772077540 |
208 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA379582580 rs1367515631 |
209 | H>R | No |
ClinGen gnomAD |
|
|
rs778405556 CA5872449 |
209 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5872448 rs756815690 |
210 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 211 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752273050 CA5872447 |
212 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs777439470 CA5872446 |
213 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs755738164 CA5872445 |
214 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs148348427 CA5872444 |
216 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1271737754 CA379582531 |
216 | R>S | No |
ClinGen gnomAD |
|
|
rs1223685783 CA379582524 |
217 | W>* | No |
ClinGen gnomAD |
|
|
rs766616199 CA5872443 |
217 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA5872442 rs758951700 |
219 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA5872440 rs765827790 |
221 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs537936728 CA5872438 |
223 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs537936728 CA5872437 |
223 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 223 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1280534880 CA379582478 |
224 | S>L | No |
ClinGen TOPMed |
|
|
rs775357872 CA5872435 |
226 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1285175198 CA379582470 |
226 | I>V | No |
ClinGen gnomAD |
|
|
rs945038885 CA217518950 |
227 | A>V | No |
ClinGen TOPMed |
|
|
rs1454974207 CA379582444 |
230 | H>Y | No |
ClinGen gnomAD |
|
|
rs199762165 CA5872433 |
231 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA379582430 rs774337141 |
232 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs770819729 CA5872431 |
232 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5872432 rs774337141 |
232 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs767771615 CA5872415 |
233 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs942893076 CA217517047 |
234 | I>V | No |
ClinGen Ensembl |
|
|
rs1429542229 CA379582399 |
235 | V>I | No |
ClinGen gnomAD |
|
|
rs759287665 CA5872414 |
236 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759287665 CA379582393 |
236 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA217517018 rs267603221 |
238 | D>N | No |
ClinGen Ensembl |
|
|
rs774106228 CA5872413 |
239 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA217517011 rs1003337576 |
240 | K>Q | No |
ClinGen TOPMed |
|
|
CA379582323 rs1398907904 |
246 | V>I | No |
ClinGen Ensembl |
|
|
CA5872412 rs577298626 |
248 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1554944156 CA5872410 |
248 | S>N | No |
ClinGen Ensembl |
|
|
rs762840417 CA379582288 |
251 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs762840417 CA5872409 |
251 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1199987632 CA379582281 |
252 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 259 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs907202175 CA217516984 |
261 | I>V | No |
ClinGen TOPMed |
|
|
CA5872406 rs769131449 |
262 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1392354747 CA379582206 |
262 | K>R | No |
ClinGen TOPMed |
|
|
rs1261361005 CA379582186 |
263 | V>E | No |
ClinGen TOPMed |
|
|
CA217515670 rs1034276145 |
264 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 265 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761271879 CA5872385 |
266 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1365572251 CA379582159 |
267 | G>D | No |
ClinGen gnomAD |
|
|
rs1591189010 CA379582162 |
267 | G>R | No |
ClinGen Ensembl |
|
|
CA5872384 rs776183937 |
269 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375541480 CA5872383 |
269 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779433882 CA5872381 |
270 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA379582138 rs1490762298 |
271 | K>E | No |
ClinGen gnomAD |
|
|
CA217515659 rs373443603 |
271 | K>R | No |
ClinGen ESP TOPMed |
|
|
CA379582124 rs1375807727 |
273 | Q>K | No |
ClinGen TOPMed |
|
|
CA379582113 rs1416446051 |
274 | S>N | No |
ClinGen TOPMed |
|
|
CA5872379 rs749665434 |
276 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA379582083 rs1339476378 |
278 | A>D | No |
ClinGen TOPMed |
|
|
rs1280760420 COSM333846 COSM333847 CA379582074 |
279 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA379582069 rs1308998004 |
280 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA379582056 rs1350403314 |
282 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 283 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379582021 rs1391493687 |
287 | P>L | No |
ClinGen gnomAD |
|
|
rs752738622 CA5872376 |
288 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs781289189 CA5872375 |
289 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1243958979 CA379581915 |
291 | A>D | No |
ClinGen TOPMed |
|
|
CA379581996 rs1217974364 |
291 | A>T | No |
ClinGen TOPMed |
|
|
CA379581907 rs1425832205 |
292 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA217506872 rs866208762 |
293 | E>* | No |
ClinGen gnomAD |
|
|
CA379581898 rs866208762 |
293 | E>K | No |
ClinGen gnomAD |
|
|
CA379581880 rs371660674 |
294 | V>F | No |
ClinGen ESP gnomAD |
|
|
COSM932601 rs371660674 CA217506871 COSM932600 |
294 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA gnomAD |
|
rs945079859 CA217506854 |
295 | I>T | No |
ClinGen Ensembl |
|
|
rs138385159 CA5872366 |
295 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379581850 rs1249775734 |
296 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA379581844 rs1249673691 |
297 | A>T | No |
ClinGen gnomAD |
|
|
CA379581834 rs1188729379 |
298 | H>D | No |
ClinGen gnomAD |
|
|
CA379581832 rs1188729379 |
298 | H>Y | No |
ClinGen gnomAD |
|
|
CA217506804 rs914896685 |
299 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA379581817 rs144575904 |
299 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5872364 rs144575904 |
299 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1278621386 CA379581793 |
300 | Y>* | No |
ClinGen gnomAD |
|
|
rs1313267625 CA379581798 |
300 | Y>C | No |
ClinGen gnomAD |
|
|
rs1217821528 CA379581772 |
302 | Q>R | No |
ClinGen gnomAD |
|
|
rs1017442327 CA217506799 |
303 | Q>H | No |
ClinGen TOPMed |
|
| TCGA novel | 305 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5872363 rs771816386 |
306 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1319678294 CA379581698 |
307 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA379581685 rs1227884696 |
308 | S>N | No |
ClinGen gnomAD |
|
|
CA379581657 rs1434922408 |
310 | G>D | No |
ClinGen TOPMed |
|
|
CA379581665 rs1363348776 |
310 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA217506782 rs867270028 |
311 | V>A | No |
ClinGen Ensembl |
|
|
CA5872361 rs577175379 |
311 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412694995 CA379581637 |
312 | V>A | No |
ClinGen gnomAD |
|
|
COSM932599 COSM932598 CA379581645 rs936275480 |
312 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA217506766 rs936275480 |
312 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA379581620 CA217506745 rs199755441 |
313 | M>I | No |
ClinGen gnomAD |
|
|
rs868358384 CA217506738 |
314 | Y>* | No |
ClinGen gnomAD |
|
|
rs986271846 CA217506725 |
315 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA379581603 rs1448483627 |
315 | M>V | No |
ClinGen gnomAD |
|
|
rs1261067376 CA379581327 |
316 | L>F | No |
ClinGen TOPMed |
|
|
CA5872345 COSM1357472 rs550787324 COSM1357473 |
318 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5872344 rs141134644 |
318 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA379581314 rs141134644 |
318 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1477693045 CA379581310 |
319 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 319 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379581281 rs1166402086 |
321 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 326 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201583070 CA5872343 |
326 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773449812 CA5872342 |
327 | S>* | No |
ClinGen ExAC gnomAD |
|
|
COSM932597 CA5872341 rs770141941 COSM932596 |
329 | E>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1333042168 CA379581179 |
329 | E>V | No |
ClinGen gnomAD |
|
| TCGA novel | 330 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5872340 rs748452905 |
330 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA379581133 rs1204866856 |
332 | F>C | No |
ClinGen gnomAD |
|
|
CA379581121 rs1455266125 |
333 | E>G | No |
ClinGen TOPMed |
|
|
CA5872339 rs777265786 |
333 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5872338 CA379581081 rs769124423 |
336 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747141734 CA5872337 |
337 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 338 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1321376362 CA379581060 CA379581058 |
338 | G>R | No |
ClinGen gnomAD |
|
|
CA379580996 rs1287789691 |
342 | F>L | No |
ClinGen gnomAD |
|
|
rs1413155189 CA379581006 |
342 | F>L | No |
ClinGen gnomAD |
|
|
rs1230357805 CA379580992 |
343 | E>Q | No |
ClinGen gnomAD |
|
|
rs1387647974 CA379580978 |
344 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1409149944 CA379580936 |
347 | W>L | No |
ClinGen gnomAD |
|
|
CA217503180 rs779889141 |
349 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA217503170 rs756031730 |
350 | I>M | No |
ClinGen Ensembl |
|
|
rs375602911 CA217503176 |
350 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA217503166 rs200662514 |
351 | S>R | No |
ClinGen Ensembl |
|
|
CA5872335 rs758652555 |
351 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379580873 rs1348984001 |
352 | D>A | No |
ClinGen gnomAD |
|
|
rs1458075092 CA379580879 |
352 | D>N | No |
ClinGen gnomAD |
|
|
rs371810427 CA379580852 |
353 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs371810427 CA5872334 |
353 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA379580758 rs1157804101 |
356 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA217502628 rs1016856537 |
362 | M>I | No |
ClinGen Ensembl |
|
|
rs761132241 CA5872319 |
362 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263651173 CA379580674 |
368 | H>P | No |
ClinGen gnomAD |
|
|
CA5872317 rs199562993 |
369 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA217502611 rs1013049945 |
369 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 371 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779235226 CA5872315 |
373 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379580645 rs779235226 |
373 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138159359 CA5872311 |
378 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1233892011 CA379580601 |
379 | Q>R | No |
ClinGen gnomAD |
|
|
CA5872291 rs747954934 |
383 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs781323502 CA5872290 |
384 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA379580277 rs1414296578 |
387 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs548920572 CA5872288 |
388 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs758076205 CA5872285 |
389 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758076205 CA379580266 |
389 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379580260 rs1365065019 |
390 | R>K | No |
ClinGen TOPMed |
|
|
CA5872284 rs750020482 |
390 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379580249 rs1179459830 |
391 | P>L | No |
ClinGen gnomAD |
|
|
rs764864603 CA5872283 |
393 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA217485592 rs921202669 |
393 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA379580104 COSM1561949 COSM1561950 rs1329129597 |
401 | W>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs759917299 CA5872279 |
401 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA379580061 rs1439134211 |
404 | N>H | No |
ClinGen gnomAD |
|
|
CA5872278 rs774490392 |
404 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1337092855 CA379580039 |
405 | P>L | No |
ClinGen TOPMed |
|
|
rs1411670696 CA379580050 |
405 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA379580037 rs1590859567 |
406 | E>K | No |
ClinGen Ensembl |
|
|
CA217485561 rs927203905 |
407 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA379580007 rs1290370336 |
407 | S>N | No |
ClinGen TOPMed |
|
|
rs1390881906 CA379579984 |
408 | V>G | No |
ClinGen gnomAD |
|
|
rs763109430 CA5872275 |
410 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5872273 rs201296442 |
413 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5872274 rs201296442 |
413 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA379579884 rs1377989302 |
415 | E>G | No |
ClinGen gnomAD |
|
|
CA5872269 rs145552076 |
419 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145552076 CA5872270 |
419 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1446926832 CA379579743 |
424 | K>E | No |
ClinGen gnomAD |
|
|
rs1421060827 CA379579681 |
427 | S>N | No |
ClinGen TOPMed |
|
|
rs1221448970 CA379579650 |
429 | Q>E | No |
ClinGen gnomAD |
|
|
CA379579640 rs1590859017 |
429 | Q>H | No |
ClinGen Ensembl |
|
|
CA5872266 rs140349792 |
429 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5872264 rs143683529 |
431 | W>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs377485276 CA5872262 |
432 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM932590 rs564944697 COSM932591 CA5872263 |
432 | G>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5872261 rs755520485 |
434 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1343520055 CA379579557 |
435 | P>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 435 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379579555 rs1343520055 |
435 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs3751096 VAR_041174 CA5872259 |
436 | D>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA217485479 rs386750506 |
436 | D>ET | No |
ClinGen Ensembl |
|
|
CA379579542 rs1564891883 |
436 | D>H | No |
ClinGen Ensembl |
|
|
CA5872258 VAR_041175 rs3751095 |
437 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5872257 rs773408144 |
437 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5872256 rs367730444 |
438 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379579470 rs1218760634 |
440 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs771722375 CA217485446 |
442 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 444 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1474762733 CA379579392 |
445 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA5872253 rs768279440 |
446 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379579358 rs1443525313 |
447 | K>R | No |
ClinGen gnomAD |
|
|
CA379579351 rs1280042993 |
448 | Q>R | No |
ClinGen gnomAD |
|
|
rs775304688 CA379837357 |
449 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1371292133 CA379837359 |
449 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs775304688 CA5872231 |
449 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs184785381 CA5872230 |
450 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA217471505 rs17852925 |
451 | A>T | No |
ClinGen Ensembl |
|
|
CA5872229 rs759398568 |
454 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA217471503 rs770943150 |
455 | Q>L | No |
ClinGen Ensembl |
|
|
CA217471502 rs962524709 |
456 | F>L | No |
ClinGen TOPMed |
|
|
CA5872227 rs770482515 |
456 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1473869055 CA379837305 |
457 | P>L | No |
ClinGen gnomAD |
|
|
rs1163349899 CA379837307 |
457 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5872226 VAR_041176 rs35296353 |
458 | A>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA379837297 rs1433497627 |
459 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA217471501 rs951332557 |
459 | T>I | No |
ClinGen TOPMed |
|
|
rs769468594 CA5872224 |
460 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs762790064 CA5872223 |
461 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5872222 rs762790064 |
461 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 461 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379837275 rs750904085 |
462 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5872221 rs758979117 |
462 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 463 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779550632 CA5872219 |
463 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1029707936 CA217471500 |
465 | D>A | No |
ClinGen TOPMed |
|
|
rs1029707936 CA379837255 |
465 | D>G | No |
ClinGen TOPMed |
|
|
rs1467592777 CA379837245 |
466 | M>I | No |
ClinGen TOPMed |
|
|
CA5872218 rs757481696 |
466 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs753930051 CA217471499 |
467 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA5872216 rs764243193 |
468 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA217471498 rs776825659 |
470 | S>G | No |
ClinGen TOPMed |
|
|
CA379837221 rs1590675088 |
470 | S>N | No |
ClinGen Ensembl |
|
|
rs1223071671 CA379837214 |
471 | F>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 472 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA217471497 rs997854075 |
473 | S>C | No |
ClinGen TOPMed |
|
|
rs1294850286 CA379837194 |
474 | S>I | No |
ClinGen gnomAD |
|
|
CA379837193 rs1294850286 |
474 | S>N | No |
ClinGen gnomAD |
|
|
rs868831447 CA217471496 |
477 | L>F | No |
ClinGen Ensembl |
|
|
CA217471495 rs145375959 |
477 | L>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5872214 rs760910753 |
479 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1018004777 CA217471494 |
482 | K>N | No |
ClinGen TOPMed |
|
|
rs1459256404 CA379837135 |
483 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs752438491 CA5872213 |
483 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs759308961 CA379837121 |
485 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs759308961 CA5872211 |
485 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs767237145 CA5872212 |
485 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs774335422 CA5872210 |
486 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA5872209 rs770821592 |
487 | K>E | No |
ClinGen ExAC TOPMed |
|
|
rs762420940 CA5872208 |
488 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590674480 CA379837103 |
488 | T>P | No |
ClinGen Ensembl |
|
|
rs1259621483 CA379837079 |
492 | P>A | No |
ClinGen TOPMed |
|
|
rs376097595 CA5872202 |
496 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376097595 CA5872203 |
496 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779605649 CA5872200 |
497 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1314867383 CA379837039 |
498 | T>S | No |
ClinGen gnomAD |
|
|
rs1198974528 CA379837020 |
501 | P>A | No |
ClinGen TOPMed |
|
|
rs912341553 CA217471493 |
501 | P>R | No |
ClinGen gnomAD |
|
|
rs986559659 CA217471492 |
502 | A>P | No |
ClinGen Ensembl |
|
|
CA5872197 rs777841300 |
504 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379836998 rs1564833216 |
505 | G>S | No |
ClinGen Ensembl |
|
| TCGA novel | 505 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379836994 rs1420282677 |
505 | G>A | No |
ClinGen TOPMed |
|
|
rs370327545 CA217471489 |
506 | A>D | No |
ClinGen ESP TOPMed |
|
|
COSM2153972 rs373984158 COSM2153973 CA5872192 |
506 | A>S | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA5872191 rs373984158 |
506 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1275205334 CA379836981 |
508 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 508 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751336523 CA5872190 |
509 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA217471488 rs1016511358 |
510 | T>S | No |
ClinGen Ensembl |
|
|
rs1221682977 CA379836967 |
511 | K>E | No |
ClinGen TOPMed |
|
|
rs1057515418 CA217471487 |
511 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1353733914 CA379836954 |
512 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs147967475 CA5872189 |
514 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
No associated diseases with Q9BYT3
5 regional properties for Q9BYT3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | C2 domain | 58 - 183 | IPR000008 |
| domain | HECT domain | 530 - 886 | IPR000569 |
| domain | WW domain | 249 - 282 | IPR001202-1 |
| domain | WW domain | 405 - 438 | IPR001202-2 |
| domain | WW domain | 460 - 493 | IPR001202-3 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| 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. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| mitotic DNA damage checkpoint signaling | A signal transduction process involved in mitotic DNA damage checkpoint. |
| 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). |
101 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P39009 | DUN1 | DNA damage response protein kinase DUN1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| A4IFM7 | MYLK2 | Myosin light chain kinase 2, skeletal/cardiac muscle | Bos taurus (Bovine) | SS |
| Q0V7M1 | PSKH1 | Serine/threonine-protein kinase H1 | Bos taurus (Bovine) | SS |
| Q0VD22 | STK33 | Serine/threonine-protein kinase 33 | Bos taurus (Bovine) | PR |
| Q96NX5 | CAMK1G | Calcium/calmodulin-dependent protein kinase type 1G | Homo sapiens (Human) | SS |
| O15075 | DCLK1 | Serine/threonine-protein kinase DCLK1 | Homo sapiens (Human) | EV |
| Q14012 | CAMK1 | Calcium/calmodulin-dependent protein kinase type 1 | Homo sapiens (Human) | EV |
| Q9UIK4 | DAPK2 | Death-associated protein kinase 2 | Homo sapiens (Human) | EV |
| O94768 | STK17B | Serine/threonine-protein kinase 17B | Homo sapiens (Human) | PR |
| Q86YV6 | MYLK4 | Myosin light chain kinase family member 4 | Homo sapiens (Human) | SS |
| Q16566 | CAMK4 | Calcium/calmodulin-dependent protein kinase type IV | Homo sapiens (Human) | SS |
| P11801 | PSKH1 | Serine/threonine-protein kinase H1 | Homo sapiens (Human) | SS |
| Q8N568 | DCLK2 | Serine/threonine-protein kinase DCLK2 | Homo sapiens (Human) | PR |
| Q9UEE5 | STK17A | Serine/threonine-protein kinase 17A | Homo sapiens (Human) | SS |
| O75962 | TRIO | Triple functional domain protein | Homo sapiens (Human) | EV |
| Q9H1R3 | MYLK2 | Myosin light chain kinase 2, skeletal/cardiac muscle | Homo sapiens (Human) | EV |
| Q32MK0 | MYLK3 | Myosin light chain kinase 3 | Homo sapiens (Human) | SS |
| Q8WWF8 | CAPSL | Calcyphosin-like protein | Homo sapiens (Human) | PR |
| P53355 | DAPK1 | Death-associated protein kinase 1 | Homo sapiens (Human) | EV |
| Q6P2M8 | PNCK | Calcium/calmodulin-dependent protein kinase type 1B | Homo sapiens (Human) | SS |
| Q8NCB2 | CAMKV | CaM kinase-like vesicle-associated protein | Homo sapiens (Human) | SS |
| O43293 | DAPK3 | Death-associated protein kinase 3 | Homo sapiens (Human) | PR |
| Q8IU85 | CAMK1D | Calcium/calmodulin-dependent protein kinase type 1D | Homo sapiens (Human) | SS |
| O96017 | CHEK2 | Serine/threonine-protein kinase Chk2 | Homo sapiens (Human) | EV |
| Q9QYK9 | Pnck | Calcium/calmodulin-dependent protein kinase type 1B | Mus musculus (Mouse) | PR |
| Q91VB2 | Camk1g | Calcium/calmodulin-dependent protein kinase type 1G | Mus musculus (Mouse) | SS |
| Q8BG48 | Stk17b | Serine/threonine-protein kinase 17B | Mus musculus (Mouse) | PR |
| Q8VCR8 | Mylk2 | Myosin light chain kinase 2, skeletal/cardiac muscle | Mus musculus (Mouse) | SS |
| Q6PGN3 | Dclk2 | Serine/threonine-protein kinase DCLK2 | Mus musculus (Mouse) | PR |
| Q91YS8 | Camk1 | Calcium/calmodulin-dependent protein kinase type 1 | Mus musculus (Mouse) | SS |
| Q3UIZ8 | Mylk3 | Myosin light chain kinase 3 | Mus musculus (Mouse) | SS |
| Q8VDF3 | Dapk2 | Death-associated protein kinase 2 | Mus musculus (Mouse) | EV |
| Q6P8Y1 | Capsl | Calcyphosin-like protein | Mus musculus (Mouse) | PR |
| Q8BW96 | Camk1d | Calcium/calmodulin-dependent protein kinase type 1D | Mus musculus (Mouse) | SS |
| Q3UHL1 | Camkv | CaM kinase-like vesicle-associated protein | Mus musculus (Mouse) | SS |
| P08414 | Camk4 | Calcium/calmodulin-dependent protein kinase type IV | Mus musculus (Mouse) | SS |
| Q9JLM8 | Dclk1 | Serine/threonine-protein kinase DCLK1 | Mus musculus (Mouse) | SS |
| Q91YA2 | Pskh1 | Serine/threonine-protein kinase H1 | Mus musculus (Mouse) | SS |
| Q80YE7 | Dapk1 | Death-associated protein kinase 1 | Mus musculus (Mouse) | SS |
| Q62407 | Speg | Striated muscle-specific serine/threonine-protein kinase | Mus musculus (Mouse) | SS |
| Q0KL02 | Trio | Triple functional domain protein | Mus musculus (Mouse) | SS |
| O54784 | Dapk3 | Death-associated protein kinase 3 | Mus musculus (Mouse) | PR |
| Q924X7 | Stk33 | Serine/threonine-protein kinase 33 | Mus musculus (Mouse) | PR |
| Q7TNJ7 | Camk1g | Calcium/calmodulin-dependent protein kinase type 1G | Rattus norvegicus (Rat) | SS |
| P20689 | Mylk2 | Myosin light chain kinase 2, skeletal/cardiac muscle | Rattus norvegicus (Rat) | SS |
| F1M0Z1 | Trio | Triple functional domain protein | Rattus norvegicus (Rat) | SS |
| Q91XS8 | Stk17b | Serine/threonine-protein kinase 17B | Rattus norvegicus (Rat) | PR |
| O08875 | Dclk1 | Serine/threonine-protein kinase DCLK1 | Rattus norvegicus (Rat) | PR |
| E9PT87 | Mylk3 | Myosin light chain kinase 3 | Rattus norvegicus (Rat) | SS |
| O70150 | Pnck | Calcium/calmodulin-dependent protein kinase type 1B | Rattus norvegicus (Rat) | PR |
| Q63092 | Camkv | CaM kinase-like vesicle-associated protein | Rattus norvegicus (Rat) | SS |
| Q63638 | Speg | Striated muscle-specific serine/threonine-protein kinase | Rattus norvegicus (Rat) | SS |
| O88764 | Dapk3 | Death-associated protein kinase 3 | Rattus norvegicus (Rat) | PR |
| P13234 | Camk4 | Calcium/calmodulin-dependent protein kinase type IV | Rattus norvegicus (Rat) | SS |
| Q63450 | Camk1 | Calcium/calmodulin-dependent protein kinase type 1 | Rattus norvegicus (Rat) | EV |
| P97924 | Kalrn | Kalirin | Rattus norvegicus (Rat) | SS |
| Q5MPA9 | Dclk2 | Serine/threonine-protein kinase DCLK2 | Rattus norvegicus (Rat) | PR |
| Q5VQQ5 | CPK2 | Calcium-dependent protein kinase 2 | Oryza sativa subsp. japonica (Rice) | SS |
| Q8LPZ7 | CPK3 | Calcium-dependent protein kinase 3 | Oryza sativa subsp. japonica (Rice) | SS |
| Q6K968 | CPK6 | Calcium-dependent protein kinase 6 | Oryza sativa subsp. japonica (Rice) | SS |
| P53684 | CPK7 | Calcium-dependent protein kinase 7 | Oryza sativa subsp japonica (Rice) | PR |
| Q75GE8 | CPK8 | Calcium-dependent protein kinase 8 | Oryza sativa subsp. japonica (Rice) | SS |
| Q6I5I8 | CPK16 | Calcium-dependent protein kinase 16 | Oryza sativa subsp. japonica (Rice) | SS |
| Q6AVM3 | CCAMK | Calcium and calcium/calmodulin-dependent serine/threonine-protein kinase | Oryza sativa subsp japonica (Rice) | PR |
| Q84SL0 | CPK20 | Calcium-dependent protein kinase 20 | Oryza sativa subsp. japonica (Rice) | SS |
| P53682 | CPK23 | Calcium-dependent protein kinase 23 | Oryza sativa subsp japonica (Rice) | PR |
| Q9TXJ0 | cmk-1 | Calcium/calmodulin-dependent protein kinase type 1 | Caenorhabditis elegans | PR |
| O44997 | dapk-1 | Death-associated protein kinase dapk-1 | Caenorhabditis elegans | SS |
| Q95QC4 | zyg-8 | Serine/threonine-protein kinase zyg-8 | Caenorhabditis elegans | PR |
| P28583 | Calcium-dependent protein kinase SK5 | Glycine max (Soybean) (Glycine hispida) | PR | |
| Q9M9V8 | CPK10 | Calcium-dependent protein kinase 10 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q39016 | CPK11 | Calcium-dependent protein kinase 11 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9FX86 | CRK8 | CDPK-related kinase 8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SSF8 | CPK30 | Calcium-dependent protein kinase 30 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38872 | CPK6 | Calcium-dependent protein kinase 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q7XJR9 | CPK16 | Calcium-dependent protein kinase 16 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SIQ7 | CPK24 | Calcium-dependent protein kinase 24 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SJ61 | CPK25 | Calcium-dependent protein kinase 25 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZV15 | CPK20 | Calcium-dependent protein kinase 20 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P93759 | GK-1 | Calcium-dependent protein kinase 14 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8S8S2 | LPEAT2 | Lysophospholipid acyltransferase LPEAT2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38870 | CPK2 | Calcium-dependent protein kinase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LJL9 | CRK2 | CDPK-related kinase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SG12 | CRK6 | CDPK-related kinase 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SCS2 | CRK5 | CDPK-related kinase 5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8W4I7 | CPK13 | Calcium-dependent protein kinase 13 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q6NLQ6 | CPK32 | Calcium-dependent protein kinase 32 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZSA4 | CPK27 | Calcium-dependent protein kinase 27 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38869 | CPK4 | Calcium-dependent protein kinase 4 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q42479 | CPK3 | Calcium-dependent protein kinase 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q1PE17 | CPK18 | Calcium-dependent protein kinase 18 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q06850 | CPK1 | Calcium-dependent protein kinase 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FMP5 | CPK17 | Calcium-dependent protein kinase 17 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38873 | CPK7 | Calcium-dependent protein kinase 7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q3E9C0 | CPK34 | Calcium-dependent protein kinase 34 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q42438 | CPK8 | Calcium-dependent protein kinase 8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q42396 | CPK12 | Calcium-dependent protein kinase 12 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9FKW4 | CPK28 | Calcium-dependent protein kinase 28 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q1LUA6 | trio | Triple functional domain protein | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| A8C984 | mylk3 | Myosin light chain kinase 3 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q7SY49 | camkv | CaM kinase-like vesicle-associated protein | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MADSGLDKKS | TKCPDCSSAS | QKDVLCVCSS | KTRVPPVLVV | EMSQTSSIGS | AESLISLERK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KEKNINRDIT | SRKDLPSRTS | NVERKASQQQ | WGRGNFTEGK | VPHIRIENGA | AIEEIYTFGR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ILGKGSFGIV | IEATDKETET | KWAIKKVNKE | KAGSSAVKLL | EREVNILKSV | KHEHIIHLEQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VFETPKKMYL | VMELCEDGEL | KEILDRKGHF | SENETRWIIQ | SLASAIAYLH | NNDIVHRDLK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LENIMVKSSL | IDDNNEINLN | IKVTDFGLAV | KKQSRSEAML | QATCGTPIYM | APEVISAHDY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SQQCDIWSIG | VVMYMLLRGE | PPFLASSEEK | LFELIRKGEL | HFENAVWNSI | SDCAKSVLKQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LMKVDPAHRI | TAKELLDNQW | LTGNKLSSVR | PTNVLEMMKE | WKNNPESVEE | NTTEEKNKPS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TEEKLKSYQP | WGNVPDANYT | SDEEEEKQST | AYEKQFPATS | KDNFDMCSSS | FTSSKLLPAE |
| 490 | 500 | 510 | |||
| IKGEMEKTPV | TPSQGTATKY | PAKSGALSRT | KKKL |