Q99640
PR
Gene name |
PKMYT1 (MYT1) |
Protein name |
Membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase |
Names |
Myt1 kinase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9088 |
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
250-272 (Activation loop from InterPro)
Target domain |
110-359 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
15 structures for Q99640
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3P1A | X-ray | 170 A | A | 75-362 | PDB |
| 5VCV | X-ray | 192 A | A | 75-362 | PDB |
| 5VCW | X-ray | 225 A | A/B | 75-362 | PDB |
| 5VCX | X-ray | 270 A | A | 75-362 | PDB |
| 5VCY | X-ray | 156 A | A | 75-362 | PDB |
| 5VCZ | X-ray | 150 A | A | 75-362 | PDB |
| 5VD0 | X-ray | 213 A | A | 75-362 | PDB |
| 5VD1 | X-ray | 170 A | A | 75-362 | PDB |
| 5VD3 | X-ray | 180 A | A | 75-362 | PDB |
| 8D6C | X-ray | 220 A | A/B | 75-362 | PDB |
| 8D6D | X-ray | 235 A | A/B | 75-362 | PDB |
| 8D6E | X-ray | 215 A | A/B | 75-362 | PDB |
| 8D6F | X-ray | 249 A | A/B | 75-362 | PDB |
| 8WJY | X-ray | 188 A | A | 75-362 | PDB |
| AF-Q99640-F1 | Predicted | AlphaFoldDB |
481 variants for Q99640
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1205106719 CA394460936 |
2 | L>P | No |
ClinGen gnomAD |
|
|
CA7853905 rs776773461 |
3 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276901600 rs141021541 |
4 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs747806130 CA7853873 |
5 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394460098 rs1217904111 |
6 | P>T | No |
ClinGen gnomAD |
|
|
rs1364506668 COSM4128973 CA394460085 |
7 | A>P | thyroid [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA394460084 rs1364506668 |
7 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1289758845 CA394460080 |
7 | A>V | No |
ClinGen gnomAD |
|
|
CA7853872 rs754508022 |
9 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs754508022 CA7853871 |
9 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs867886375 CA276899524 |
10 | M>I | No |
ClinGen Ensembl |
|
|
rs946328642 CA276899529 |
10 | M>R | No |
ClinGen Ensembl |
|
|
rs546443149 CA7853870 |
10 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394460043 rs779324078 |
11 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1428591897 CA394460033 |
11 | P>L | No |
ClinGen gnomAD |
|
|
CA7853869 rs779324078 |
11 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7853868 rs757616411 |
12 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA394460027 rs757616411 |
12 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA394460006 rs1430170744 |
13 | P>S | No |
ClinGen gnomAD |
|
|
rs987228846 CA276899506 |
14 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7853864 rs760912129 |
15 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567389100 CA394459983 |
15 | E>K | No |
ClinGen Ensembl |
|
|
rs1199250786 CA394459961 |
16 | G>D | No |
ClinGen TOPMed |
|
|
rs1244577916 CA394459971 |
16 | G>S | No |
ClinGen gnomAD |
|
|
rs1596453906 CA394459958 |
17 | T>P | No |
ClinGen Ensembl |
|
|
rs921316810 CA276899498 |
18 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs61747725 CA7853862 |
20 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7853861 rs376033267 |
22 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394459882 rs1363336627 |
22 | S>I | No |
ClinGen gnomAD |
|
| TCGA novel | 22 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1317418601 CA394459870 |
23 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7853860 rs774323517 |
24 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276899449 rs1009481426 |
27 | P>L | No |
ClinGen TOPMed |
|
|
CA394459796 rs1596453827 |
28 | V>D | No |
ClinGen Ensembl |
|
|
rs1301091624 CA394459788 |
29 | P>T | No |
ClinGen gnomAD |
|
|
rs1490052633 CA394459781 |
30 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA394459765 rs1291808015 |
31 | Y>F | No |
ClinGen gnomAD |
|
|
rs772927100 CA7853857 CA276899437 |
32 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769593499 CA7853856 |
33 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7853855 rs747789800 |
33 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1443571681 CA394459729 |
34 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA7853854 rs780893716 |
35 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1481934915 CA394459690 |
36 | E>A | No |
ClinGen gnomAD |
|
|
CA276899410 rs751851695 |
39 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204346564 CA394459596 |
41 | L>H | No |
ClinGen gnomAD |
|
|
CA7853851 rs779636661 |
42 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA394459568 rs1246990901 |
43 | R>G | No |
ClinGen gnomAD |
|
|
CA394459535 rs1249754904 |
45 | R>G | No |
ClinGen TOPMed |
|
|
rs1012928303 CA276899401 |
45 | R>K | No |
ClinGen Ensembl |
|
|
CA394459509 rs1481619587 |
45 | R>S | No |
ClinGen TOPMed |
|
|
CA394459453 rs375676053 |
49 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA276899388 rs574628255 |
49 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7853849 rs574628255 |
49 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7853850 rs375676053 |
49 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394459433 rs1297534503 |
50 | S>G | No |
ClinGen gnomAD |
|
|
rs1596453682 CA394459420 |
50 | S>R | No |
ClinGen Ensembl |
|
|
rs898667327 CA394459411 |
51 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA276899380 rs898667327 |
51 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1367224502 CA394459408 |
51 | L>P | No |
ClinGen gnomAD |
|
|
COSM969809 CA7853847 rs554702940 |
54 | P>L | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs267604501 CA276899364 |
59 | G>S | No |
ClinGen Ensembl |
|
|
CA7853845 rs767681910 |
60 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759827973 CA7853844 |
60 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA394459217 rs1182102686 |
62 | P>L | No |
ClinGen gnomAD |
|
|
rs201496002 CA7853843 |
62 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7853842 rs766487784 |
65 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs762821895 CA7853841 |
65 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394459154 rs766487784 |
65 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1306111201 CA394459124 |
66 | L>F | No |
ClinGen TOPMed |
|
|
rs773196509 CA7853840 |
68 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA276899321 rs974388607 |
69 | P>R | No |
ClinGen TOPMed |
|
|
COSM703305 CA394459065 rs1317579280 |
69 | P>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs199579159 CA276899315 |
70 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394459033 rs1407927917 |
70 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs199579159 CA7853839 |
70 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7853838 rs761632808 |
71 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1404073964 CA394458977 |
72 | P>L | No |
ClinGen gnomAD |
|
|
CA394458997 rs1167502448 |
72 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7853836 rs776320473 |
73 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA7853835 rs768142382 |
74 | W>* | No |
ClinGen ExAC TOPMed |
|
|
rs746702452 CA394458894 |
76 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1487617232 CA394458870 |
78 | Q>* | No |
ClinGen TOPMed |
|
|
CA394458846 rs1156262706 |
79 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA276899250 rs558592733 |
80 | R>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
rs779362929 CA7853833 |
80 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7853829 rs756526240 |
81 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756526240 CA7853830 |
81 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200289802 CA7853831 |
81 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7853827 rs781644777 |
82 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs781644777 CA394458789 |
82 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA7853826 rs369913939 |
84 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7853824 rs766358175 |
85 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7853825 rs191260650 |
85 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7853822 rs750333562 |
87 | E>D | No |
ClinGen ExAC |
|
|
rs146807166 CA7853821 |
88 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1319959015 CA394458584 |
88 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA394458571 rs1382463925 |
89 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA394458563 rs1382463925 |
89 | S>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 90 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776245976 CA7853819 |
90 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761757517 CA7853820 |
90 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1383730292 CA394458552 |
90 | E>K | No |
ClinGen gnomAD |
|
|
rs1409036231 CA394458513 |
91 | T>I | No |
ClinGen gnomAD |
|
|
rs1596453362 CA394458319 |
98 | D>A | No |
ClinGen Ensembl |
|
| TCGA novel | 98 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs548229445 CA7853816 |
99 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7853815 rs771704108 |
100 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1464320594 CA394458265 |
100 | S>R | No |
ClinGen TOPMed |
|
|
CA7853813 rs774021188 |
101 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745420000 CA7853814 |
101 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs55834293 CA276899087 |
103 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA276899085 rs55834293 VAR_041034 |
103 | E>Q | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
|
CA394458138 rs1199804733 |
104 | S>P | No |
ClinGen gnomAD |
|
| rs750629453 | 106 | F>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1012854376 CA276899081 |
107 | Q>R | No |
ClinGen Ensembl |
|
|
CA394457984 rs1475868682 |
108 | Q>E | No |
ClinGen TOPMed |
|
|
rs781356015 CA7853809 |
109 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7853807 rs747195888 |
115 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7853806 rs780368070 |
115 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs750450125 CA7853804 |
118 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA276899054 rs1035322604 |
118 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA7853802 rs757117878 |
120 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765329664 CA7853803 |
120 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203215165 CA394457420 |
122 | G>R | No |
ClinGen TOPMed |
|
|
rs760584675 CA7853799 |
123 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA276899037 rs898940852 |
126 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA276899038 rs998959989 |
126 | K>R | No |
ClinGen Ensembl |
|
|
rs781123371 CA7853763 |
128 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA276898455 rs866197276 |
128 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA394455504 rs1242305055 |
130 | K>N | No |
ClinGen gnomAD |
|
|
rs751229692 CA7853761 |
131 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3670186 rs762539396 CA7853759 |
133 | G>S | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7853757 rs539232433 |
134 | R>Q | Variant assessed as Somatic; 8.102e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs993831575 CA276898443 |
134 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA7853756 rs761183557 |
135 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1434570285 CA394455406 |
136 | Y>C | No |
ClinGen gnomAD |
|
|
CA7853754 COSM246612 rs772419573 |
137 | A>V | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1222154288 CA394455356 |
138 | V>A | No |
ClinGen Ensembl |
|
|
rs1466508643 CA394455362 |
138 | V>L | No |
ClinGen gnomAD |
|
|
VAR_019928 rs4149796 CA7853752 |
140 | R>C | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1411441085 CA394455323 |
140 | R>H | No |
ClinGen gnomAD |
|
|
rs150058868 CA276898438 |
142 | M>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA394455219 rs530441645 |
146 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7853749 rs530441645 |
146 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7853750 rs749476329 |
146 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394455212 rs1483893127 |
147 | G>R | No |
ClinGen gnomAD |
|
|
rs1440227977 CA394455170 |
149 | K>E | No |
ClinGen TOPMed |
|
|
CA7853747 rs748095456 |
149 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769823811 CA7853748 |
149 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394455128 rs1275711133 |
150 | D>E | No |
ClinGen gnomAD |
|
|
rs139434266 CA7853746 |
151 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368720100 CA7853743 |
153 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375440438 COSM3667792 CA7853742 |
153 | R>H | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs375440438 CA7853741 |
153 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7853739 rs756825700 |
155 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs547455847 CA7853736 |
157 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774631291 CA7853735 |
159 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774631291 CA394454943 |
159 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394454922 rs1164913791 |
160 | S>N | No |
ClinGen gnomAD |
|
|
CA394454871 rs763225442 |
162 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7853733 rs763225442 |
162 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769888645 CA7853731 |
163 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA276898378 rs1041938105 |
164 | V>M | No |
ClinGen gnomAD |
|
|
CA7853730 rs748290168 |
166 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA7853729 rs776868886 |
167 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394454689 rs1245683584 |
168 | P>L | No |
ClinGen gnomAD |
|
|
rs768670303 CA7853728 |
168 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7853727 rs746951407 |
171 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7853725 rs758188073 COSM3690917 |
172 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7853726 rs779843901 |
172 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1054441649 CA276898372 |
174 | E>* | No |
ClinGen Ensembl |
|
|
CA7853724 rs745531416 |
175 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1367125344 CA394454553 |
176 | A>S | No |
ClinGen gnomAD |
|
|
CA394454487 rs1596451525 |
179 | E>G | No |
ClinGen Ensembl |
|
|
CA394454475 rs1293741365 |
180 | G>S | No |
ClinGen gnomAD |
|
|
CA7853721 rs527285616 |
181 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1473883849 CA394454443 |
182 | I>M | No |
ClinGen gnomAD |
|
|
CA394454436 rs1181994747 |
183 | L>P | No |
ClinGen gnomAD |
|
|
CA7853719 rs372008941 |
187 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7853715 rs773458421 |
189 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs762153541 CA394454321 |
190 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226413382 CA394454313 |
191 | G>E | No |
ClinGen gnomAD |
|
|
CA394454315 rs1287648244 |
191 | G>R | No |
ClinGen gnomAD |
|
|
CA7853712 rs776790359 |
193 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA394454276 rs1197197606 |
194 | L>P | No |
ClinGen TOPMed |
|
|
rs1170091034 CA394454280 |
194 | L>V | No |
ClinGen Ensembl |
|
|
rs760679296 CA7853710 |
196 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA7853708 rs775360025 |
197 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs771871236 CA7853707 |
198 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA394454195 rs1213427876 |
200 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 200 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394454201 rs1458549054 |
200 | A>T | No |
ClinGen TOPMed |
|
|
rs373163800 CA276898332 |
201 | W>R | No |
ClinGen ESP gnomAD |
|
|
CA394454164 rs745700411 |
202 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 202 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7853706 rs745700411 |
202 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs564993872 CA7853704 |
206 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 207 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394454092 rs1184558119 |
208 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA276898324 rs886279902 |
209 | Q>R | No |
ClinGen TOPMed |
|
|
CA7853703 rs748953207 |
210 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA7853701 rs755687070 |
211 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs752072941 CA7853700 |
212 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7853699 rs780471941 |
213 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7853697 rs369663008 |
215 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7853695 rs762073643 |
215 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs369663008 CA7853696 |
215 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143167027 CA7853694 |
217 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1448834644 CA394453962 |
218 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA7853692 rs760711402 |
220 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7853691 rs775478177 |
222 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA394453929 rs775478177 |
222 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1596451241 CA394453904 |
223 | H>P | No |
ClinGen Ensembl |
|
|
CA7853690 rs771856495 |
223 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7853689 rs531556877 |
224 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA276898283 rs113508225 |
227 | Q>L | No |
ClinGen TOPMed |
|
|
CA394453850 rs113508225 |
227 | Q>R | No |
ClinGen TOPMed |
|
|
CA7853687 rs562372351 |
228 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7853684 rs542397918 |
231 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7853683 rs747559818 |
232 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs140937042 CA7853681 |
234 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7853679 rs370010108 |
236 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394453728 rs1186726923 |
236 | P>L | No |
ClinGen gnomAD |
|
|
CA7853680 rs370010108 |
236 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370010108 CA394453733 |
236 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394453717 rs1444100457 |
237 | A>G | No |
ClinGen gnomAD |
|
|
CA394453715 rs1294476401 |
238 | N>H | No |
ClinGen gnomAD |
|
|
rs1256766252 CA394453683 |
240 | F>S | No |
ClinGen gnomAD |
|
|
rs377489890 CA7853678 |
241 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377489890 CA394453677 |
241 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7853677 rs147158922 |
243 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7853675 rs760981093 |
244 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7853676 rs141696813 |
244 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767640370 COSM1220808 CA7853673 |
246 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs35192104 CA7853672 VAR_041035 |
246 | R>H | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7853671 rs35192104 |
246 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767640370 CA394453625 |
246 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342851596 CA394453573 |
250 | G>S | No |
ClinGen gnomAD |
|
|
rs373318831 CA7853668 |
253 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7853669 rs762783250 CA394453516 |
253 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394453482 rs1170817134 |
255 | L>V | No |
ClinGen gnomAD |
|
|
CA7853666 rs143471437 |
257 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775942640 CA7853665 |
259 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394453392 rs775942640 |
259 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394453415 rs1412549117 |
259 | G>S | No |
ClinGen TOPMed |
|
|
rs768274799 CA7853664 |
260 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 261 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7853663 rs746360176 |
262 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs201863866 CA276898222 |
262 | G>R | No |
ClinGen TOPMed |
|
|
rs1369073068 CA394453259 |
265 | E>D | No |
ClinGen gnomAD |
|
|
rs1473809979 CA394453267 |
265 | E>V | No |
ClinGen gnomAD |
|
|
CA394453220 rs1186754153 |
267 | Q>L | No |
ClinGen gnomAD |
|
|
rs1596450972 CA394453162 |
270 | D>A | No |
ClinGen Ensembl |
|
|
CA394453150 rs779607480 CA7853662 |
270 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs149246130 CA7853660 |
272 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778314989 CA7853659 |
272 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752978444 CA7853656 |
276 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs767489995 CA7853655 |
277 | E>G | No |
ClinGen ExAC |
|
|
rs144899418 CA276898169 |
277 | E>K | No |
ClinGen ESP gnomAD |
|
|
rs755125145 CA7853654 |
280 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394452871 rs1410819287 |
281 | G>D | No |
ClinGen gnomAD |
|
|
rs766253189 CA7853652 |
283 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7853650 rs772920818 |
285 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA394452759 rs1162687313 |
286 | A>G | No |
ClinGen gnomAD |
|
|
rs140982084 CA7853649 |
287 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140982084 CA394452751 |
287 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7853648 rs761362077 COSM1377241 |
287 | A>V | Variant assessed as Somatic; 4.792e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA394452706 rs1361801387 |
289 | V>M | No |
ClinGen TOPMed |
|
|
rs1006721490 CA276898154 |
291 | S>T | No |
ClinGen TOPMed |
|
|
rs1596449574 CA394452408 |
295 | T>P | No |
ClinGen Ensembl |
|
|
rs867749756 CA276897861 |
297 | L>M | No |
ClinGen Ensembl |
|
|
CA394452334 rs1248128733 |
299 | V>M | No |
ClinGen gnomAD |
|
|
CA394452313 rs1187362829 |
300 | A>T | No |
ClinGen gnomAD |
|
|
rs1346435168 CA394452298 |
301 | C>R | No |
ClinGen TOPMed |
|
| TCGA novel | 304 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394452208 rs1271846331 |
305 | L>P | No |
ClinGen TOPMed |
|
|
rs748494794 CA276897856 |
308 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748494794 CA7853620 |
308 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394452137 rs1313166528 |
310 | E>* | No |
ClinGen gnomAD |
|
|
CA7853619 rs768797552 |
310 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868382093 CA276897853 |
314 | Q>H | No |
ClinGen gnomAD |
|
|
rs1344528433 CA394452057 |
314 | Q>L | No |
ClinGen gnomAD |
|
|
rs747241874 CA394452030 |
316 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs747241874 CA7853617 |
316 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA7853616 rs772148799 |
316 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772148799 CA394452026 |
316 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7853614 rs79750900 |
319 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276897837 rs79750900 |
319 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390369652 CA394451953 |
321 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7853612 rs201199309 COSM99105 |
322 | P>L | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA7853611 rs201199309 |
322 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs902856022 CA276897791 |
325 | T>P | No |
ClinGen TOPMed |
|
|
rs765818221 CA7853586 |
327 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs752456347 CA7853607 |
327 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs913176915 CA276897664 |
328 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA394451792 rs1596448983 |
330 | S>A | No |
ClinGen Ensembl |
|
|
rs1596448976 CA394451788 |
330 | S>F | No |
ClinGen Ensembl |
|
|
CA394451773 rs1417600355 |
331 | E>D | No |
ClinGen gnomAD |
|
|
CA7853584 rs368126121 |
331 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs764415078 CA394451760 |
333 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7853582 rs201597909 |
333 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764415078 CA7853583 |
333 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7853581 rs371396451 |
335 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394451723 rs1351650554 |
337 | V>L | No |
ClinGen TOPMed |
|
|
rs772244440 CA394451716 |
338 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs772244440 COSM969807 CA7853580 |
338 | M>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA7853579 rs572424155 |
339 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774433682 CA7853578 |
340 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394451678 rs1286767248 |
341 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 342 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1596448908 CA394451653 |
343 | D>A | No |
ClinGen Ensembl |
|
|
CA7853577 rs770973591 |
343 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394451637 rs1313660659 |
344 | P>L | No |
ClinGen gnomAD |
|
|
CA394451641 rs1198880012 |
344 | P>S | No |
ClinGen TOPMed |
|
|
rs749245480 CA394451629 |
345 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA7853576 rs749245480 |
345 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA394451623 rs1258030250 |
346 | L>V | No |
ClinGen TOPMed |
|
|
CA276897616 rs922809898 |
347 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA7853575 rs146494915 |
347 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394451608 rs1437960180 |
348 | A>P | No |
ClinGen gnomAD |
|
|
rs374635417 CA276897612 |
348 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1158419991 CA394451595 |
349 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs56382954 VAR_041036 CA7853573 |
351 | E>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA394451561 rs1453962321 |
352 | A>V | No |
ClinGen gnomAD |
|
|
CA7853571 rs754598670 |
355 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1346861097 CA394451526 |
357 | P>S | No |
ClinGen gnomAD |
|
|
rs1005499142 CA276897600 |
358 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1375345223 CA394451486 |
360 | R>S | No |
ClinGen TOPMed |
|
|
rs894254778 COSM1519025 CA276897593 |
361 | Q>* | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA394451475 rs1233133362 |
361 | Q>H | No |
ClinGen gnomAD |
|
|
rs751225420 CA7853570 |
362 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7853566 rs376340331 |
363 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7853567 rs376340331 |
363 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376340331 CA7853565 |
363 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757883545 CA7853568 |
363 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380961689 CA394451455 |
364 | A>T | No |
ClinGen gnomAD |
|
|
rs1002300473 CA276897571 |
365 | W>C | No |
ClinGen TOPMed |
|
|
CA7853563 rs775768081 |
366 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393471434 CA394451421 |
366 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA394451401 rs1170640471 |
368 | L>P | No |
ClinGen gnomAD |
|
|
rs759793541 CA7853561 |
370 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774505134 CA7853560 |
371 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs774505134 CA394451368 |
371 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1444016090 CA394451359 |
372 | A>S | No |
ClinGen gnomAD |
|
|
rs1444016090 CA394451361 |
372 | A>T | No |
ClinGen gnomAD |
|
|
CA7853558 rs143066337 |
373 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7853559 rs57834465 |
373 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143066337 CA7853557 |
373 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs897804290 CA394451347 |
374 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA394451351 rs1596448622 |
374 | E>Q | No |
ClinGen Ensembl |
|
|
CA276897537 rs897804290 |
374 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7853554 rs781119016 |
375 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA394451327 rs1225909255 |
377 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA394451329 rs1225909255 |
377 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA394451324 rs1342761294 |
378 | R>* | No |
ClinGen gnomAD |
|
|
CA7853553 rs556691415 |
378 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7853552 rs746638792 |
379 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746638792 CA394451318 |
379 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758096442 CA7853550 |
380 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1430595670 CA394451298 |
382 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1371856623 CA394451264 |
385 | A>D | No |
ClinGen gnomAD |
|
|
rs776876826 CA7853519 |
387 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7853518 rs768440871 |
388 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs768440871 CA276897455 |
388 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7853517 rs760670536 |
388 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs916883445 CA276897454 |
389 | L>V | No |
ClinGen TOPMed |
|
|
CA394451242 rs1478121171 |
390 | L>F | No |
ClinGen gnomAD |
|
|
CA7853514 rs745515868 |
391 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA394451210 rs1250430355 |
394 | W>* | No |
ClinGen gnomAD |
|
|
rs748755159 CA7853511 |
395 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs748755159 CA394451203 |
395 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA394451177 rs1302821619 |
399 | H>Q | No |
ClinGen gnomAD |
|
|
CA7853505 rs551132715 |
402 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 403 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394451149 rs1289390768 |
403 | W>C | No |
ClinGen gnomAD |
|
|
rs1429863400 CA394451146 |
404 | L>V | No |
ClinGen gnomAD |
|
|
CA394451140 rs1305486679 |
405 | Q>* | No |
ClinGen gnomAD |
|
|
CA7853503 rs753795744 |
406 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7853502 rs753795744 |
406 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394451117 rs1596448108 |
407 | L>P | No |
ClinGen Ensembl |
|
|
rs1049389276 CA276897428 |
408 | G>A | No |
ClinGen gnomAD |
|
|
rs1049389276 CA394451105 |
408 | G>D | No |
ClinGen gnomAD |
|
|
CA7853501 rs764250829 |
408 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA7853500 rs537845943 |
409 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs767269485 CA7853498 |
411 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1475346074 CA394451046 |
413 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs774155338 CA7853496 |
414 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7853495 rs770502724 |
416 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 417 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_019929 rs4149800 CA7853494 |
417 | P>R | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
CA394450991 rs772583127 |
418 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA7853493 rs772583127 |
418 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA394450998 rs1208930779 |
418 | P>T | No |
ClinGen gnomAD |
|
|
CA394450982 rs1352425155 |
419 | C>Y | No |
ClinGen TOPMed |
|
|
rs769411441 CA7853492 |
422 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394450919 rs1285801669 |
424 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 427 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 427 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1237320479 CA394450846 |
429 | S>G | No |
ClinGen TOPMed |
|
|
CA7853488 rs142745280 |
429 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs984308170 CA276897386 |
431 | W>* | No |
ClinGen gnomAD |
|
|
CA7853486 rs145788703 |
432 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1428485460 CA394450797 |
432 | D>G | No |
ClinGen gnomAD |
|
|
CA7853487 rs779427704 |
432 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7853484 rs148509820 |
433 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754151585 CA7853485 |
433 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7853481 rs200656682 |
434 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7853482 rs200656682 |
434 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394450750 rs1484133714 |
435 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7853479 rs200600861 |
437 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1401525590 CA394450732 |
437 | G>R | No |
ClinGen TOPMed |
|
|
CA7853436 rs761516736 |
438 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs529448688 CA7853437 |
438 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7853438 rs529448688 |
438 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394450056 rs1251247588 |
440 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA394450045 rs1357781021 |
441 | S>F | No |
ClinGen gnomAD |
|
|
rs1384315512 CA394450032 |
443 | E>K | No |
ClinGen TOPMed |
|
|
rs1216966865 CA394450027 |
443 | E>V | No |
ClinGen TOPMed |
|
|
rs367908024 CA7853435 |
444 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394450023 rs1414434325 |
444 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA276895289 VAR_019930 rs10546 |
445 | V>A | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA7853434 rs763671016 |
445 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA276895287 rs540474058 |
447 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs756537778 CA394449990 |
448 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7853432 rs756537778 |
448 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150931982 CA7853433 |
448 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394449986 rs1418361989 |
449 | T>A | No |
ClinGen gnomAD |
|
|
CA394449982 rs1410456609 |
449 | T>N | No |
ClinGen TOPMed |
|
|
rs969534351 CA276895278 |
452 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7853431 rs766870198 |
453 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1234253031 CA394449930 |
455 | T>I | No |
ClinGen gnomAD |
|
|
CA7853429 rs773611500 |
456 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 457 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7853425 rs199526537 |
457 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs113543932 CA7853427 |
457 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 459 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747047762 CA394449898 |
460 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs747047762 CA7853423 |
460 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs779999541 CA7853422 |
460 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7853421 rs544477825 |
461 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394449875 rs1281507802 |
463 | R>G | No |
ClinGen gnomAD |
|
|
rs745853549 CA394449874 |
463 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7853420 rs745853549 |
463 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302599479 CA394449857 |
464 | D>H | No |
ClinGen gnomAD |
|
|
CA394449846 rs1346776313 |
465 | A>D | No |
ClinGen gnomAD |
|
|
CA394449850 rs1452620590 |
465 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA394449847 rs1346776313 |
465 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7853401 rs745790661 |
468 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs778769502 CA394449816 |
469 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778769502 CA7853400 |
469 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394449789 rs1193596949 |
473 | S>T | No |
ClinGen gnomAD |
|
| rs780165019 | 474 | E>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394449779 rs1477310500 |
474 | E>G | No |
ClinGen gnomAD |
|
|
CA7853396 rs113683372 |
477 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7853394 rs61747723 |
477 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7853393 rs61747723 |
477 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs113683372 CA7853395 |
477 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1222108488 CA394449758 |
478 | G>A | No |
ClinGen TOPMed |
|
|
CA394449752 rs1267018806 |
479 | S>C | No |
ClinGen TOPMed |
|
|
rs1217444708 CA394449737 |
481 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA394449731 rs1383554274 |
482 | S>F | No |
ClinGen gnomAD |
|
|
rs1363959342 CA394449735 |
482 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 483 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762309599 CA7853389 |
484 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394449719 rs762309599 |
484 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150747918 CA7853387 |
486 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs539265820 CA7853388 |
486 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394449704 rs1383224207 |
487 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA7853386 rs760884862 |
490 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276895150 rs1015481777 |
490 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs775617896 CA7853385 |
492 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs772173732 CA7853383 |
493 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1261416838 CA394449667 |
493 | E>Q | No |
ClinGen gnomAD |
|
|
rs1279763081 CA394449661 |
494 | D>N | No |
ClinGen gnomAD |
|
|
rs1208092587 CA394449652 |
495 | T>A | No |
ClinGen gnomAD |
|
|
CA7853382 rs759485953 |
495 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA394449639 rs1315874483 |
497 | D>G | No |
ClinGen gnomAD |
|
|
rs1213873472 CA394449641 |
497 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA394449633 rs1245350543 |
498 | P>S | No |
ClinGen TOPMed |
|
|
rs1415075143 CA394449624 |
499 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA394449628 rs1294870720 |
499 | T>P | No |
ClinGen gnomAD |
No associated diseases with Q99640
1 regional properties for Q99640
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | TATA-box binding protein, conserved site | 143 - 192 | IPR030491 |
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 | |
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| 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. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| kinase activity | Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. |
| metal ion binding | Binding to a metal ion. |
| protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
| protein serine 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. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| G2/M transition of mitotic cell cycle | The mitotic cell cycle transition by which a cell in G2 commits to M phase. The process begins when the kinase activity of M cyclin/CDK complex reaches a threshold high enough for the cell cycle to proceed. This is accomplished by activating a positive feedback loop that results in the accumulation of unphosphorylated and active M cyclin/CDK complex. |
| meiotic cell cycle | Progression through the phases of the meiotic cell cycle, in which canonically a cell replicates to produce four offspring with half the chromosomal content of the progenitor cell via two nuclear divisions. |
| mitotic cell cycle | Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of cyclin-dependent protein serine/threonine kinase activity | Any process that modulates the frequency, rate or extent of cyclin-dependent protein serine/threonine kinase activity. |
| regulation of mitotic nuclear division | Any process that modulates the frequency, rate or extent of mitosis. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P32944 | SWE1 | Mitosis inhibitor protein kinase SWE1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P30291 | WEE1 | Wee1-like protein kinase | Homo sapiens (Human) | PR |
| Q9P2K8 | EIF2AK4 | eIF-2-alpha kinase GCN2 | Homo sapiens (Human) | EV |
| P19525 | EIF2AK2 | Interferon-induced, double-stranded RNA-activated protein kinase | Homo sapiens (Human) | PR |
| Q9NZJ5 | EIF2AK3 | Eukaryotic translation initiation factor 2-alpha kinase 3 | Homo sapiens (Human) | PR |
| P47810 | Wee1 | Wee1-like protein kinase | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLERPPALAM | PMPTEGTPPP | LSGTPIPVPA | YFRHAEPGFS | LKRPRGLSRS | LPPPPPAKGS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IPISRLFPPR | TPGWHQLQPR | RVSFRGEASE | TLQSPGYDPS | RPESFFQQSF | QRLSRLGHGS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YGEVFKVRSK | EDGRLYAVKR | SMSPFRGPKD | RARKLAEVGS | HEKVGQHPCC | VRLEQAWEEG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GILYLQTELC | GPSLQQHCEA | WGASLPEAQV | WGYLRDTLLA | LAHLHSQGLV | HLDVKPANIF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LGPRGRCKLG | DFGLLVELGT | AGAGEVQEGD | PRYMAPELLQ | GSYGTAADVF | SLGLTILEVA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| CNMELPHGGE | GWQQLRQGYL | PPEFTAGLSS | ELRSVLVMML | EPDPKLRATA | EALLALPVLR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QPRAWGVLWC | MAAEALSRGW | ALWQALLALL | CWLWHGLAHP | ASWLQPLGPP | ATPPGSPPCS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LLLDSSLSSN | WDDDSLGPSL | SPEAVLARTV | GSTSTPRSRC | TPRDALDLSD | INSEPPRGSF |
| 490 | |||||
| PSFEPRNLLS | LFEDTLDPT |