Q9BVS4
PR
Gene name |
RIOK2 |
Protein name |
Serine/threonine-protein kinase RIO2 |
Names |
RIO kinase 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55781 |
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
No accessory elements
Autoinhibited structure
Activated structure
10 structures for Q9BVS4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5DHF | X-ray | 229 A | D | 389-403 | PDB |
| 6FDM | X-ray | 210 A | A/B/C/D | 1-313 | PDB |
| 6FDN | X-ray | 290 A | A/B | 1-320 | PDB |
| 6FDO | X-ray | 260 A | A/B | 1-353 | PDB |
| 6G18 | EM | 360 A | v | 1-552 | PDB |
| 6G51 | EM | 410 A | v | 1-552 | PDB |
| 6HK6 | X-ray | 235 A | A/B/C/D/E/F/G/H/I/J | 1-329 | PDB |
| 7VBT | X-ray | 254 A | A/B | 1-319 | PDB |
| 7WU0 | EM | 330 A | v | 1-552 | PDB |
| AF-Q9BVS4-F1 | Predicted | AlphaFoldDB |
410 variants for Q9BVS4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA360499938 rs1369362604 |
2 | G>A | No |
ClinGen TOPMed |
|
|
CA360499937 rs1369362604 |
2 | G>V | No |
ClinGen TOPMed |
|
|
rs1561523760 CA360499915 |
4 | V>L | No |
ClinGen Ensembl |
|
|
rs1187714080 CA360499890 |
5 | N>K | No |
ClinGen gnomAD |
|
|
CA3355132 rs566599094 |
6 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360499886 rs1449626850 |
6 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA3355131 rs201509903 |
7 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA360499839 rs1253405829 |
9 | L>S | No |
ClinGen gnomAD |
|
|
rs761702241 CA3355129 |
10 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA3355128 rs774370577 |
10 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1228623556 CA360499801 |
11 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA360499817 rs1266915242 |
11 | Y>H | No |
ClinGen TOPMed |
|
|
rs749076809 CA3355126 |
12 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs768522580 CA360499796 |
12 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768522580 CA3355127 |
12 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3355125 rs779776769 |
13 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs181831526 CA3355124 |
14 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3355123 rs745527787 |
15 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA360499114 rs1580283538 |
16 | D>A | No |
ClinGen Ensembl |
|
|
CA3355122 rs145595894 |
16 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1394552512 CA360499117 |
16 | D>H | No |
ClinGen gnomAD |
|
|
rs756857340 CA3355121 |
17 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1561523697 CA360499076 |
18 | R>K | No |
ClinGen Ensembl |
|
|
CA360499054 rs1368636532 |
19 | V>A | No |
ClinGen gnomAD |
|
|
rs1056388437 CA123021932 |
20 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1580283506 CA360499043 |
20 | L>W | No |
ClinGen Ensembl |
|
|
rs751081914 CA3355118 |
21 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1162250773 CA360499009 |
22 | A>G | No |
ClinGen gnomAD |
|
|
CA123018956 rs970003354 |
23 | V>I | No |
ClinGen Ensembl |
|
|
CA3355079 rs772714979 |
25 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3355076 rs779374505 |
27 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779374505 CA3355077 |
27 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA123018944 rs929457483 |
27 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1401960390 CA360497818 |
28 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
rs755515805 CA3355075 |
29 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360497729 rs1434703948 |
32 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs796983637 CA123018899 |
33 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA360497708 rs1331123251 |
33 | V>I | No |
ClinGen TOPMed |
|
|
rs767593628 CA3355071 |
35 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3355070 rs767593628 |
35 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3355072 rs767593628 |
35 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 37 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3355069 rs757303786 |
38 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360497581 rs1226127884 |
38 | I>V | No |
ClinGen TOPMed |
|
|
CA3355068 rs751737071 |
39 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140474071 CA3355067 |
40 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759607455 CA3355066 |
41 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3355065 rs186421757 |
42 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA |
|
rs878988516 CA123018864 |
44 | L>P | No |
ClinGen Ensembl |
|
|
CA3355064 rs766092380 |
45 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs202159794 CA123018850 |
46 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3355063 rs202159794 |
46 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3355061 rs367972220 |
47 | G>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs367972220 CA3355060 |
47 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1205877787 CA360497274 |
49 | C>S | No |
ClinGen TOPMed |
|
|
rs1205877787 CA360497272 |
49 | C>Y | No |
ClinGen TOPMed |
|
|
rs1338189891 CA360497206 |
52 | V>G | No |
ClinGen gnomAD |
|
|
CA3355058 rs773914651 |
53 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs769136592 CA3355057 |
55 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs780396473 CA3355055 |
56 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs749804357 CA3355056 |
56 | L>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 61 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3355052 rs781247100 |
63 | A>V | No |
ClinGen ExAC |
|
|
rs1168705752 CA360496877 |
66 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3355050 rs200929776 |
66 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 66 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371843550 CA123018732 |
67 | T>S | No |
ClinGen ESP |
|
|
rs1180224682 CA360496851 |
68 | K>T | No |
ClinGen TOPMed |
|
|
CA3355049 rs751678074 |
69 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1420165181 CA360496029 |
71 | Q>* | No |
ClinGen gnomAD |
|
|
rs770380850 CA3355034 |
72 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs770380850 CA360496011 |
72 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs746186259 CA3355033 |
73 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360495984 rs147196470 |
74 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199534704 CA3355031 |
74 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199534704 CA3355030 |
74 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3355032 rs147196470 COSM298786 |
74 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA123017601 rs951127367 |
77 | N>D | No |
ClinGen Ensembl |
|
|
CA360495886 rs368641567 |
79 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3355028 rs368641567 |
79 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA123017578 rs1006526416 |
81 | D>N | No |
ClinGen TOPMed |
|
|
CA360495794 rs1222505152 |
83 | L>V | No |
ClinGen gnomAD |
|
|
rs1050805759 CA360495783 |
84 | A>P | No |
ClinGen TOPMed |
|
|
CA123017549 rs1050805759 |
84 | A>T | No |
ClinGen TOPMed |
|
|
rs1373257340 CA360495773 |
84 | A>V | No |
ClinGen gnomAD |
|
|
rs750169272 CA3355024 |
85 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA360495681 rs1348557888 |
88 | L>R | No |
ClinGen gnomAD |
|
|
VAR_042347 CA3355017 rs2544773 |
96 | S>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3355018 rs2544773 |
96 | S>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 97 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1342783606 CA360495486 |
97 | V>F | No |
ClinGen TOPMed |
|
|
rs775103909 CA3355016 |
98 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765650664 CA3355015 |
101 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs201118759 CA3355013 |
101 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201118759 CA3355014 |
101 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771454625 CA3355012 |
102 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3355011 rs543390695 |
103 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3355010 rs773549498 |
104 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA123017462 rs941309101 |
104 | G>R | No |
ClinGen TOPMed |
|
|
CA123017452 rs775355019 |
105 | K>R | No |
ClinGen Ensembl |
|
|
CA360495311 rs1285550098 |
106 | E>* | No |
ClinGen gnomAD |
|
|
CA3354995 rs752090917 |
108 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs772465539 CA3355009 |
108 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1293656527 CA360495150 |
109 | I>V | No |
ClinGen gnomAD |
|
|
CA360495097 rs1290724145 |
111 | I>T | No |
ClinGen gnomAD |
|
|
rs1246673672 CA360495105 |
111 | I>V | No |
ClinGen TOPMed |
|
|
rs139586061 CA3354991 |
112 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139586061 CA3354992 |
112 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA123017106 rs150717298 |
113 | A>V | No |
ClinGen ESP |
|
| TCGA novel | 115 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767045233 CA3354989 |
116 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360494985 rs1169311053 |
117 | G>* | No |
ClinGen gnomAD |
|
|
CA3354986 rs773784175 |
123 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA3354985 rs772414189 |
124 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772414189 CA360494888 |
124 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3354984 rs748411339 |
126 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs768810125 CA3354982 |
130 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA3354981 rs745741062 |
131 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360494775 rs1478552411 |
133 | R>* | No |
ClinGen gnomAD |
|
|
CA3354979 rs144826286 |
133 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3354978 rs746802844 |
136 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA360494687 rs1561520412 |
139 | R>H | No |
ClinGen Ensembl |
|
|
rs144410790 CA3354975 |
140 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs990311676 CA123016991 |
142 | H>L | No |
ClinGen TOPMed |
|
|
rs1008105905 CA123016985 |
142 | H>Q | No |
ClinGen Ensembl |
|
|
rs17849382 CA3354973 |
144 | H>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000974063 VAR_042348 rs35165987 CA3354971 |
144 | H>R | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3354972 rs17849382 VAR_031597 |
144 | H>Y | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3354969 rs145124399 |
145 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360494602 rs145124399 |
145 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3354968 rs750755281 |
146 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA360494573 rs1561520374 |
147 | N>Y | No |
ClinGen Ensembl |
|
|
CA3354967 rs767994335 |
148 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1232431978 CA360494541 |
149 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1184042280 CA360494520 |
150 | W>* | No |
ClinGen TOPMed |
|
|
CA360494513 rs1248775545 |
151 | L>V | No |
ClinGen gnomAD |
|
|
CA3354962 rs775614542 |
152 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 154 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3354961 rs374216082 |
155 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3354960 VAR_042349 rs34916955 |
155 | R>H | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA360494461 rs34916955 |
155 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs916217921 CA123016887 |
158 | A>T | No |
ClinGen Ensembl |
|
|
rs777504791 CA3354959 |
159 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA360494425 rs1334249713 |
159 | M>V | No |
ClinGen gnomAD |
|
|
CA360494361 rs1235003245 |
163 | A>V | No |
ClinGen gnomAD |
|
|
rs1333916827 CA360494353 |
164 | Y>C | No |
ClinGen gnomAD |
|
|
rs747943970 CA3354957 |
165 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs771926104 CA3354958 |
165 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1383670790 CA360493374 COSM421135 COSM1133747 |
167 | A>T | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs760559516 CA123013823 |
169 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3354942 rs760559516 |
169 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3354941 rs773112879 |
170 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1181365106 CA360493228 |
172 | K>I | No |
ClinGen TOPMed |
|
|
CA3354940 rs35713904 VAR_042350 |
175 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA123013817 rs112340256 |
176 | P>T | No |
ClinGen Ensembl |
|
|
rs1580272379 CA360493097 |
178 | P>R | No |
ClinGen Ensembl |
|
|
CA3354939 rs747973611 |
179 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1727490 COSM1727489 rs774076900 CA3354938 |
181 | Y>C | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1045844109 CA123013811 |
181 | Y>N | No |
ClinGen Ensembl |
|
|
rs146081713 CA3354937 |
182 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1261196019 CA360493015 |
183 | R>C | No |
ClinGen gnomAD |
|
|
rs376720258 CA123013788 |
183 | R>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA360493019 rs1261196019 |
183 | R>S | No |
ClinGen gnomAD |
|
|
CA360492986 rs1277875634 |
185 | A>S | No |
ClinGen gnomAD |
|
|
rs1233319601 CA360492981 |
185 | A>V | No |
ClinGen gnomAD |
|
|
CA360492966 rs1187579412 |
187 | V>A | No |
ClinGen gnomAD |
|
|
CA360492932 rs1348383120 |
189 | E>D | No |
ClinGen gnomAD |
|
|
rs1305135952 CA360492929 |
190 | L>F | No |
ClinGen gnomAD |
|
|
rs1428295804 CA360492924 |
191 | I>L | No |
ClinGen gnomAD |
|
|
CA3354936 rs748950064 |
191 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1428295804 CA360492922 |
191 | I>V | No |
ClinGen gnomAD |
|
|
CA3354935 rs533893797 |
193 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757724695 CA3354911 |
197 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA3354910 rs747474224 |
197 | C>S | No |
ClinGen ExAC |
|
|
rs142306998 CA3354909 |
198 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA360508998 rs1561518101 |
198 | Q>R | No |
ClinGen Ensembl |
|
|
rs1200189819 CA360508978 |
200 | H>N | No |
ClinGen gnomAD |
|
|
CA360508941 rs758742417 |
201 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3354906 rs765444216 |
204 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA3354905 rs755254253 |
205 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA360508857 rs1580270850 |
206 | A>S | No |
ClinGen Ensembl |
|
|
rs1013983987 CA123037701 |
208 | V>I | No |
ClinGen TOPMed |
|
|
CA3354903 rs199918356 |
210 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360508778 rs1440441118 |
211 | E>K | No |
ClinGen gnomAD |
|
|
rs1490392295 CA360508750 |
212 | A>V | No |
ClinGen TOPMed |
|
|
rs761766214 CA3354902 |
213 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3354901 rs774175118 |
214 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3354899 rs147608663 COSM1568152 VAR_042351 COSM20751 |
216 | I>T | kidney large_intestine a renal clear cell carcinoma sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ESP TOPMed dbSNP gnomAD |
|
rs145268241 CA3354898 |
217 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145268241 CA3354897 |
217 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360508674 rs1232371686 |
218 | K>R | No |
ClinGen gnomAD |
|
|
CA3354896 rs775491450 |
220 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs934502333 CA123037680 |
222 | H>N | No |
ClinGen Ensembl |
|
| TCGA novel | 223 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770370431 CA3354892 |
226 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA3354891 rs746579668 |
228 | D>N | Variant assessed as Somatic; 0.0008336 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA123037661 rs1042868471 |
229 | F>V | No |
ClinGen TOPMed |
|
|
CA360508460 rs1466859656 |
234 | L>F | No |
ClinGen gnomAD |
|
|
CA360508425 rs1213793713 |
236 | L>W | No |
ClinGen gnomAD |
|
|
rs1323049579 CA360508404 |
237 | D>A | No |
ClinGen gnomAD |
|
|
rs1393280686 CA360508391 |
238 | E>* | No |
ClinGen TOPMed |
|
|
rs200136201 CA3354889 |
241 | H>R | No |
ClinGen ExAC |
|
|
CA360508303 rs1292605592 |
242 | I>F | No |
ClinGen gnomAD |
|
|
CA3354887 rs779266295 |
243 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA360508280 rs1335625531 |
244 | M>R | No |
ClinGen TOPMed |
|
|
CA3354886 VAR_042352 rs33996030 |
244 | M>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3354885 rs780128896 |
245 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780128896 CA3354884 |
245 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs528772800 CA360508187 |
249 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs528772800 CA3354883 |
249 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750552489 CA3354882 |
250 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA3354881 rs764119541 |
251 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA360508125 rs764119541 |
251 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1420047440 CA360508050 |
255 | H>R | No |
ClinGen gnomAD |
|
|
CA3354880 rs149699226 |
256 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1016521140 CA123037626 |
256 | P>L | No |
ClinGen TOPMed |
|
|
CA123037624 rs1013190298 |
257 | N>H | No |
ClinGen TOPMed |
|
|
CA360508006 rs1481327357 |
258 | A>S | No |
ClinGen TOPMed |
|
|
rs771558314 CA3354877 |
260 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 260 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767048869 CA3354852 |
261 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs769243381 CA3354849 |
265 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs774813169 CA3354850 |
265 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA360507697 rs749608925 |
267 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749608925 CA3354848 |
267 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769848230 CA3354846 |
268 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA3354847 rs775979028 |
268 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775979028 CA360507683 |
268 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360507645 rs972636429 |
271 | D>N | No |
ClinGen TOPMed |
|
|
rs1381111873 CA360507639 |
271 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs972636429 CA123036601 |
271 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs746105936 CA3354845 |
272 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1303215288 COSM3429790 CA360507621 COSM3429791 |
272 | F>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA3354844 rs781380762 |
273 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA360507199 rs1396961153 |
273 | F>L | No |
ClinGen gnomAD |
|
|
CA3354842 COSM1071530 rs757434938 COSM1595727 |
276 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs374850686 CA3354841 |
276 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753521669 CA3354838 |
280 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3354839 rs753521669 |
280 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs991056875 CA123036581 |
280 | E>V | No |
ClinGen gnomAD |
|
|
rs1182826184 CA360507079 |
283 | L>I | No |
ClinGen gnomAD |
|
|
rs1484469570 CA360507052 |
286 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA123036576 rs1034716625 |
287 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA360507028 rs1204171016 |
288 | K>R | No |
ClinGen gnomAD |
|
|
CA123036575 rs981753701 |
289 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3354836 rs755686190 |
291 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA3354818 rs779668608 |
291 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1333185438 CA360506898 |
294 | D>G | No |
ClinGen TOPMed |
|
|
rs1303044447 CA360506903 |
294 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs755919408 CA3354817 |
296 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA123036210 rs527590673 |
297 | D>H | No |
ClinGen 1000Genomes |
|
|
rs982964213 CA123036194 |
298 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA3354815 rs767148987 |
299 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs763663791 CA3354812 |
305 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs751010627 CA3354813 |
305 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA360506754 rs1459910361 |
308 | E>K | No |
ClinGen gnomAD |
|
|
CA360506733 rs1260780610 |
309 | M>I | No |
ClinGen TOPMed |
|
|
rs1027657845 CA123036168 |
310 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1027657845 CA360506727 |
310 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1440501023 CA360506655 |
318 | P>L | No |
ClinGen gnomAD |
|
|
rs753268845 CA3354810 |
321 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 322 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3354809 rs150519354 |
323 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3354808 rs759975930 |
326 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777195544 CA3354807 |
328 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3354804 rs760984391 |
333 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300797594 CA360506549 |
334 | F>V | No |
ClinGen gnomAD |
|
|
rs200897705 CA3354803 |
335 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA123036086 rs1013318182 |
338 | D>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 338 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748230025 CA3354801 |
346 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs160632 VAR_031598 CA3354799 |
349 | G>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 350 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs945153510 CA123036061 |
351 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3354797 rs780981743 COSM421136 COSM1133746 |
355 | E>* | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA3354796 rs112201709 |
356 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM198923 CA360506398 rs1161416386 |
356 | R>W | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs375968179 CA123036052 |
357 | N>S | No |
ClinGen Ensembl |
|
|
CA3354795 rs751257515 |
361 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs375093755 CA3354794 |
361 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1217332095 CA360506334 |
365 | C>W | No |
ClinGen gnomAD |
|
|
CA360506338 rs1262347173 |
365 | C>Y | No |
ClinGen gnomAD |
|
|
CA123036036 rs1030769135 |
370 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3354791 rs765760583 |
372 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1580267359 CA360506290 |
372 | D>G | No |
ClinGen Ensembl |
|
|
CA123036027 rs562480362 |
375 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
rs191630960 CA3354789 |
380 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs576754020 CA3354788 |
380 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 381 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA123036011 rs957919653 |
383 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 384 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3354784 rs772219956 |
386 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360506185 rs1251426037 |
387 | D>Y | No |
ClinGen TOPMed |
|
|
CA360506179 rs1269254369 |
388 | A>T | No |
ClinGen gnomAD |
|
|
CA360506165 rs1414085932 |
389 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA123035987 rs986347419 |
389 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3354783 rs73778018 |
394 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs12188395 VAR_031599 CA3354782 |
397 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3354781 rs765406758 |
400 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA3354780 rs377377999 |
404 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360505910 rs1164905430 |
405 | G>A | No |
ClinGen TOPMed |
|
|
CA123035966 rs35829000 VAR_042353 |
409 | E>D | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA360505855 rs1218167171 |
409 | E>K | No |
ClinGen gnomAD |
|
|
CA3354779 rs780926747 |
411 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 414 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1006237817 CA123035938 |
418 | E>K | No |
ClinGen gnomAD |
|
|
CA3354774 rs746829973 |
419 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1041078418 CA123035933 |
420 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1219716578 CA360505678 |
422 | R>G | No |
ClinGen gnomAD |
|
|
CA360505658 rs1292027270 |
423 | T>N | No |
ClinGen gnomAD |
|
|
CA561747266 rs1561516284 |
426 | Y>* | No |
ClinGen Ensembl |
|
|
rs775229075 CA360505609 |
427 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1232587386 CA360505602 |
428 | R>S | No |
ClinGen TOPMed |
|
|
CA3354769 rs778568581 |
429 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA3354768 rs755500212 |
430 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360505594 rs1291431012 |
430 | D>N | No |
ClinGen TOPMed |
|
|
rs755500212 CA360505589 |
430 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360505582 rs1415553639 |
431 | G>R | No |
ClinGen gnomAD |
|
|
CA3354767 rs754416378 |
433 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA360505529 rs1473002035 |
435 | Q>R | No |
ClinGen gnomAD |
|
|
rs767039019 CA3354766 |
438 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179157914 CA360505487 |
439 | P>A | No |
ClinGen gnomAD |
|
|
CA360505479 rs1302468233 |
439 | P>L | No |
ClinGen gnomAD |
|
|
rs1259688915 CA360505472 |
440 | A>P | No |
ClinGen TOPMed |
|
|
rs1238214629 CA360505428 |
443 | D>E | No |
ClinGen gnomAD |
|
|
CA3354765 rs554417418 |
444 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767769597 CA3354763 |
445 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360505380 rs1580266972 |
447 | D>N | No |
ClinGen Ensembl |
|
|
rs761956985 CA3354762 |
448 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs373094809 CA123035895 |
451 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
rs1300055475 CA360505283 |
453 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs754433856 CA123035877 |
454 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA123035875 rs754433856 |
454 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3354756 rs142914308 |
455 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3354757 rs759421320 |
455 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376891047 CA3354755 |
456 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs945176130 CA123035859 |
458 | L>* | No |
ClinGen Ensembl |
|
|
rs1176559176 CA360505211 |
459 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs113786360 CA3354752 |
459 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360505184 rs1180192589 |
461 | E>G | No |
ClinGen gnomAD |
|
|
rs1363927854 CA360505166 |
462 | F>L | No |
ClinGen TOPMed |
|
|
rs771687247 CA3354751 |
463 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360505150 rs747786018 |
464 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs143694844 CA3354749 |
464 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3354750 rs747786018 |
464 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 465 | F>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360505130 rs1416960737 |
465 | F>S | No |
ClinGen gnomAD |
|
|
CA3354748 rs754512093 |
466 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA123034970 rs77316058 |
467 | D>Y | No |
ClinGen Ensembl |
|
|
CA123034968 rs773822985 |
468 | E>A | No |
ClinGen Ensembl |
|
|
CA360504814 rs1378245928 |
474 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1049803776 CA360504823 |
474 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1049803776 CA123034966 |
474 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA360504827 rs1184461089 |
474 | M>V | No |
ClinGen TOPMed |
|
|
CA3354724 rs779727025 |
475 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1402504531 CA360504808 |
475 | N>S | No |
ClinGen Ensembl |
|
|
CA3354723 rs756580137 |
477 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA123034961 rs964957331 |
478 | R>I | No |
ClinGen TOPMed |
|
|
CA3354722 rs746396549 |
481 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3354721 rs781573463 |
481 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 486 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 486 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3354719 rs149380980 |
488 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138706005 CA3354718 |
489 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3354717 rs758632274 |
490 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360504639 rs1484374252 |
490 | A>V | No |
ClinGen gnomAD |
|
|
rs1388148600 CA360504610 |
493 | C>S | No |
ClinGen TOPMed |
|
| TCGA novel | 494 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368826694 CA3354716 |
496 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3354715 rs765262774 |
497 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1440564492 CA360503915 |
500 | L>V | No |
ClinGen gnomAD |
|
|
CA3354694 rs761859219 |
501 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA360503911 rs767338791 |
501 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3354695 rs767338791 |
501 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3354692 rs764014992 |
503 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA360503896 rs1487181675 |
503 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1561514471 CA360503882 |
505 | V>M | No |
ClinGen Ensembl |
|
|
rs762649535 CA3354690 |
507 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs34555783 VAR_042354 RCV000946866 CA3354689 |
507 | R>H | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs34555783 CA360503868 |
507 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1355450543 CA360503859 |
508 | Q>H | No |
ClinGen gnomAD |
|
|
CA3354688 rs769527941 |
513 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA3354687 rs758964535 |
514 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA360503808 rs1302582890 |
516 | A>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1447600408 CA360503798 |
517 | V>G | No |
ClinGen TOPMed |
|
|
CA3354686 rs776263383 |
518 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs771275716 CA3354685 |
519 | R>C | Variant assessed as Somatic; 9.272e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3354684 rs747545177 |
520 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1429104031 CA360503747 |
525 | E>D | No |
ClinGen TOPMed |
|
|
CA3354680 rs778996495 |
527 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs546963791 CA3354679 |
527 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3354677 rs199988441 |
528 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749266352 CA3354678 |
528 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1257468584 CA360503710 |
531 | K>R | No |
ClinGen gnomAD |
|
|
COSM379359 CA3354675 rs188871124 |
533 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs201129331 CA3354674 |
533 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1345025770 CA360503687 |
535 | E>K | No |
ClinGen gnomAD |
|
|
CA3354671 rs764784104 |
537 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA3354672 rs771162154 |
537 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759240472 CA3354670 |
540 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360503647 rs1316627263 |
540 | I>V | No |
ClinGen gnomAD |
|
|
CA3354669 rs184671200 |
542 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371897843 CA123034149 |
543 | S>N | No |
ClinGen ESP TOPMed |
|
|
CA3354668 rs749580817 |
544 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332426956 CA360503605 |
546 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs147011890 CA3354666 |
548 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA123034137 rs1055903285 |
548 | S>R | No |
ClinGen TOPMed |
|
|
rs201824946 CA123034124 |
550 | W>* | No |
ClinGen 1000Genomes gnomAD |
|
|
CA3354665 rs772631373 |
551 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750883284 CA123034119 |
551 | G>R | No |
ClinGen Ensembl |
No associated diseases with Q9BVS4
No regional properties for Q9BVS4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9BVS4 | |||
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 | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
| preribosome, small subunit precursor | A preribosomal complex consisting of 20S pre-rRNA, ribosomal proteins including late-associating small subunit proteins, and associated proteins; a precursor of the eukaryotic cytoplasmic small ribosomal subunit. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| 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. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| cell cycle | The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. |
| maturation of SSU-rRNA | Any process involved in the maturation of a precursor Small SubUnit (SSU) ribosomal RNA (rRNA) molecule into a mature SSU-rRNA molecule. |
| positive regulation of ribosomal small subunit export from nucleus | Any process that activates or increases the frequency, rate or extent of ribosomal small subunit export from nucleus. |
| positive regulation of rRNA processing | Any process that activates or increases the frequency, rate or extent of rRNA processing. |
| 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). |
| regulation of mitotic metaphase/anaphase transition | Any process that modulates the frequency, rate or extent of the cell cycle process in which a cell progresses from metaphase to anaphase during mitosis, triggered by the activation of the anaphase promoting complex by Cdc20/Sleepy homolog which results in the degradation of Securin. |
| ribosomal small subunit biogenesis | A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a small ribosomal subunit; includes transport to the sites of protein synthesis. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9CQS5 | Riok2 | Serine/threonine-protein kinase RIO2 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGKVNVAKLR | YMSRDDFRVL | TAVEMGMKNH | EIVPGSLIAS | IASLKHGGCN | KVLRELVKHK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LIAWERTKTV | QGYRLTNAGY | DYLALKTLSS | RQVVESVGNQ | MGVGKESDIY | IVANEEGQQF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ALKLHRLGRT | SFRNLKNKRD | YHKHRHNVSW | LYLSRLSAMK | EFAYMKALYE | RKFPVPKPID |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YNRHAVVMEL | INGYPLCQIH | HVEDPASVYD | EAMELIVKLA | NHGLIHGDFN | EFNLILDESD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HITMIDFPQM | VSTSHPNAEW | YFDRDVKCIK | DFFMKRFSYE | SELFPTFKDI | RREDTLDVEV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SASGYTKEMQ | ADDELLHPLG | PDDKNIETKE | GSEFSFSDGE | VAEKAEVYGS | ENESERNCLE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ESEGCYCRSS | GDPEQIKEDS | LSEESADARS | FEMTEFNQAL | EEIKGQVVEN | NSVTEFSEEK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NRTENYNRQD | GQRVQGGVPA | GSDEYEDECP | HLIALSSLNR | EFRPFRDEEN | VGAMNQYRTR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TLSITSSGSA | VSCSTIPPEL | VKQKVKRQLT | KQQKSAVRRR | LQKGEANIFT | KQRRENMQNI |
| 550 | |||||
| KSSLEAASFW | GE |