Q96S53
PR
Gene name |
TESK2 |
Protein name |
Dual specificity testis-specific protein kinase 2 |
Names |
Testicular protein kinase 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10420 |
EC number |
2.7.12.1: Dual-specificity kinases (those acting on Ser/Thr and Tyr residues) |
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
196-221 (Activation loop from InterPro)
Target domain |
58-313 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
1 structures for Q96S53
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96S53-F1 | Predicted | AlphaFoldDB |
479 variants for Q96S53
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs1272647065 | 1 | M>? | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA827384 rs537670766 |
3 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1227764599 CA340277410 |
3 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754221754 CA827383 |
4 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1432820176 CA340277390 |
6 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs200046705 CA827382 |
6 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA340277384 rs1366181680 |
7 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1394203692 CA340277375 |
8 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1302236742 CA340277379 |
8 | S>T | No |
ClinGen gnomAD |
|
|
CA22096872 rs954700632 |
9 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs751040848 CA827379 |
9 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA827378 rs765845467 |
10 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA340277359 rs1428512439 VAR_041214 |
11 | G>A | a breast infiltrating ductal carcinoma sample; somatic mutation [UniProt] | No |
ClinGen UniProt dbSNP gnomAD |
|
rs1428512439 CA340277360 |
11 | G>E | No |
ClinGen gnomAD |
|
|
CA827377 rs762500141 |
12 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA827376 rs772840123 |
13 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA827375 rs200465813 |
15 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA827374 rs761606482 |
15 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA340277336 rs761606482 |
15 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA827373 rs776307347 |
16 | V>L | No |
ClinGen ExAC TOPMed |
|
|
CA340277326 rs1424922846 |
17 | E>G | No |
ClinGen gnomAD |
|
|
rs1038580098 CA22096858 |
18 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1038580098 CA22096861 |
18 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA827372 rs149714069 |
18 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340277319 rs1249858383 |
19 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA827371 rs200947198 |
21 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200947198 CA827370 |
21 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340277290 rs1253079905 |
23 | E>Q | No |
ClinGen gnomAD |
|
|
rs1310350968 CA340277281 |
24 | G>E | No |
ClinGen gnomAD |
|
|
CA827368 rs746001716 |
24 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA340277270 rs1282472204 |
26 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1054870185 CA22096844 |
26 | G>R | No |
ClinGen TOPMed |
|
|
CA340277268 rs1282472204 |
26 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1484601688 CA340277237 |
31 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA827365 rs139535559 |
32 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340277225 rs1299136066 |
33 | S>N | No |
ClinGen TOPMed |
|
|
CA340277218 rs1340332648 |
34 | Q>* | No |
ClinGen TOPMed |
|
|
CA340277214 rs1398584896 |
34 | Q>H | No |
ClinGen TOPMed |
|
|
CA340277211 rs1557581219 |
35 | V>L | No |
ClinGen Ensembl |
|
|
CA340277184 rs1465036329 |
39 | W>* | No |
ClinGen gnomAD |
|
|
rs757425136 CA827364 |
40 | P>S | No |
ClinGen ExAC |
|
|
rs1227805747 CA340277170 |
41 | S>C | No |
ClinGen TOPMed |
|
|
rs1177657060 CA340277172 |
41 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA22096826 rs778031587 |
42 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778031587 CA827362 |
42 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181730045 CA340277154 |
44 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1181730045 CA340277153 |
44 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 44 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 46 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA827360 rs753124933 |
48 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA340277103 rs1180185807 |
52 | R>G | No |
ClinGen gnomAD |
|
|
CA827357 rs190280178 |
52 | R>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA827358 rs190280178 |
52 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340277095 rs1262408127 |
53 | L>Q | No |
ClinGen gnomAD |
|
|
rs1204166720 CA340277093 |
54 | T>A | No |
ClinGen gnomAD |
|
|
rs749944438 CA827356 |
54 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA827355 rs200234376 |
55 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA22096798 rs1044894727 |
55 | R>H | No |
ClinGen gnomAD |
|
|
CA340277085 rs1044894727 |
55 | R>L | No |
ClinGen gnomAD |
|
|
CA340277074 rs1308604869 |
57 | D>V | No |
ClinGen gnomAD |
|
|
rs377531824 CA827353 |
62 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763761830 CA827352 |
64 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA340277023 rs1337990761 |
64 | I>V | No |
ClinGen gnomAD |
|
|
rs1454560122 CA340277002 |
67 | G>A | No |
ClinGen gnomAD |
|
|
rs1162827663 CA340276988 |
69 | F>S | No |
ClinGen gnomAD |
|
|
CA827348 rs745875254 |
70 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA827347 rs774585810 |
74 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201108031 CA827328 |
76 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA827327 rs749444911 |
76 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs199634022 CA827325 |
78 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA340275616 rs199634022 |
78 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA827324 rs748458464 |
78 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs781563700 CA827323 |
79 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1328567022 CA340275584 |
83 | V>E | No |
ClinGen gnomAD |
|
|
CA827322 rs755434211 |
84 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747479634 CA827321 |
85 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1366425148 CA340275569 |
86 | L>V | No |
ClinGen gnomAD |
|
|
CA340275555 rs1427881917 |
88 | M>L | No |
ClinGen gnomAD |
|
|
CA827320 rs368906198 |
89 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340275542 rs1239331949 |
89 | N>S | No |
ClinGen Ensembl |
|
|
rs756706580 CA827319 |
90 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs147189690 CA827316 |
92 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1021318065 CA22081756 |
93 | S>G | No |
ClinGen TOPMed |
|
|
CA340275505 rs1197007360 |
94 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs201939248 CA827314 |
95 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201939248 CA827313 |
95 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA827315 rs372388070 |
95 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1224190253 CA340275501 |
96 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1435600537 CA340275482 |
98 | M>R | No |
ClinGen gnomAD |
|
|
rs1282418076 CA340275486 |
98 | M>V | No |
ClinGen TOPMed |
|
|
rs1271599130 CA340275453 |
102 | V>A | No |
ClinGen gnomAD |
|
|
CA22081727 rs200935796 |
103 | Q>* | No |
ClinGen Ensembl |
|
|
rs751528134 CA827312 |
105 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA340275425 rs368627237 |
106 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766404095 CA827311 |
106 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 107 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1257611941 CA340275391 |
111 | P>L | No |
ClinGen gnomAD |
|
|
CA22081706 rs371806238 |
112 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 113 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769856145 CA827308 |
114 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA827266 rs79912007 |
117 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA22057319 rs1029193278 |
117 | M>V | No |
ClinGen TOPMed |
|
|
CA827265 rs753143712 |
119 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs371783133 CA827264 |
122 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1570675433 CA340274056 |
123 | Q>* | No |
ClinGen Ensembl |
|
|
rs1302053369 CA340274053 |
123 | Q>P | No |
ClinGen gnomAD |
|
|
rs1366823841 CA340274042 |
125 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1366823841 CA340274041 |
125 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1428391951 CA340274029 |
126 | L>F | No |
ClinGen gnomAD |
|
|
rs1420729684 CA340274025 |
127 | H>N | No |
ClinGen gnomAD |
|
|
CA340274026 rs1420729684 |
127 | H>Y | No |
ClinGen gnomAD |
|
|
CA340274003 rs1557552105 |
130 | T>R | No |
ClinGen Ensembl |
|
| TCGA novel | 131 | E>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA827260 rs779004656 |
131 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1355620972 CA340273448 |
132 | Y>C | No |
ClinGen gnomAD |
|
|
CA340273443 rs1405211275 |
133 | I>V | No |
ClinGen TOPMed |
|
|
rs373794514 CA827249 |
134 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA827247 rs371472272 |
135 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA827245 rs747601244 |
136 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22035231 rs768380343 |
139 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA827243 rs768380343 |
139 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA827242 rs746637153 |
140 | Q>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 140 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201555283 CA22035204 |
144 | S>I | No |
ClinGen Ensembl |
|
|
CA827239 rs745720489 |
145 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs185925536 CA827238 |
145 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 149 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA22035192 rs567596765 |
152 | V>L | No |
ClinGen 1000Genomes gnomAD |
|
|
CA340273320 rs567596765 |
152 | V>M | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1304318198 CA340273307 |
154 | V>L | No |
ClinGen gnomAD |
|
|
CA340273279 rs1222091409 |
158 | Y>C | No |
ClinGen TOPMed |
|
|
rs1222091409 CA340273278 |
158 | Y>S | No |
ClinGen TOPMed |
|
|
rs368533762 CA827234 |
160 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA827235 rs764190439 |
160 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA827233 rs752950056 |
162 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA340273256 rs752950056 |
162 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs767698335 CA827232 |
168 | H>Y | No |
ClinGen ExAC |
|
|
rs774867648 CA827230 |
170 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1327164640 CA340273192 |
171 | G>D | No |
ClinGen gnomAD |
|
|
CA827229 rs766941117 |
172 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375990336 CA22035167 |
173 | F>L | No |
ClinGen ESP TOPMed |
|
|
rs371218684 CA827227 |
175 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs763583068 CA827228 |
175 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA827226 rs554014562 |
177 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs534232934 CA22035132 |
179 | S>C | No |
ClinGen 1000Genomes |
|
|
CA827225 rs377671405 |
179 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200501879 CA827224 |
180 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759220638 CA827204 |
181 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA340147038 rs1570634302 |
183 | L>R | No |
ClinGen Ensembl |
|
|
CA340147028 rs1315447230 |
185 | K>* | No |
ClinGen TOPMed |
|
|
CA827202 rs201530883 |
186 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1295279208 CA340147016 |
187 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs145725484 CA340147007 |
188 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs145725484 CA827201 |
188 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA827200 rs749146726 |
190 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA21857436 rs941460791 |
192 | S>P | No |
ClinGen TOPMed |
|
|
CA340146963 rs1557537684 |
195 | V>I | No |
ClinGen Ensembl |
|
|
CA340146925 rs1179301838 |
200 | L>R | No |
ClinGen gnomAD |
|
|
rs1163801862 CA340146905 |
203 | K>R | No |
ClinGen gnomAD |
|
|
rs536554780 CA827196 |
205 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1435268243 CA340146893 |
205 | P>S | No |
ClinGen gnomAD |
|
|
CA827194 rs755123085 |
206 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA340146872 rs1264860024 |
208 | S>N | No |
ClinGen gnomAD |
|
|
CA827169 rs779178787 |
209 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA827168 rs757681957 |
211 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335183606 CA340146824 |
213 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs976240379 CA21857069 |
214 | L>R | No |
ClinGen Ensembl |
|
|
CA21857064 rs369770011 |
216 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA827165 rs764721604 |
217 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA340146797 rs1345013581 |
218 | G>D | No |
ClinGen TOPMed |
|
|
rs1334416022 CA340146789 |
219 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA340146783 rs1469031830 |
220 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 221 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375688752 CA827162 |
229 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs762906650 CA827161 |
229 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340146723 rs762906650 |
229 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA827160 rs772954937 |
232 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA827159 rs561258879 |
232 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768723232 CA827156 |
234 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1383692679 CA340146678 |
236 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 237 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 237 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759720435 CA827132 |
239 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs771196711 CA827130 |
244 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA827128 rs778139663 |
248 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770183646 CA827127 |
249 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21856368 rs915247223 |
249 | I>N | No |
ClinGen TOPMed |
|
|
rs1475244071 CA340146570 |
250 | I>V | No |
ClinGen gnomAD |
|
|
rs374778347 CA827125 |
251 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs199654833 CA827124 |
251 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA827123 rs749950295 |
252 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340146560 rs749950295 |
252 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs189457091 CA827122 |
252 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA340146559 rs749950295 |
252 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs903971946 CA21856323 |
255 | A>V | No |
ClinGen gnomAD |
|
|
rs1212569883 CA340146536 |
256 | D>N | No |
ClinGen gnomAD |
|
|
CA827120 rs753539881 |
257 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1310624792 CA340146521 |
258 | D>Y | No |
ClinGen TOPMed |
|
|
rs760597513 CA827118 |
259 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340146513 rs1343155923 |
259 | Y>N | No |
ClinGen gnomAD |
|
|
CA340146503 rs1352112889 |
260 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA340146499 rs1168882387 |
261 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA340146498 rs1168882387 |
261 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA340146494 rs1463770271 |
262 | R>C | No |
ClinGen TOPMed |
|
|
CA827117 rs752670807 |
262 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA827116 rs374304316 |
263 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 264 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1461470711 CA340146466 |
265 | N>D | No |
ClinGen TOPMed |
|
| TCGA novel | 265 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA827094 rs751491078 |
266 | F>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 266 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs56398001 CA827092 CA827091 |
267 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762105251 CA827089 |
269 | D>Y | No |
ClinGen ExAC gnomAD |
|
| rs1313464719 | 271 | D>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340146395 rs1304205294 |
275 | H>Y | No |
ClinGen gnomAD |
|
|
CA340146385 rs1570632344 |
276 | M>I | No |
ClinGen Ensembl |
|
|
CA21856038 rs763526119 |
276 | M>T | No |
ClinGen Ensembl |
|
|
rs777004858 CA827088 |
276 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA827084 rs780590998 |
281 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA827086 rs769006888 |
281 | P>T | No |
ClinGen ExAC |
|
|
rs1553141420 CA340146334 |
284 | F>L | No |
ClinGen Ensembl |
|
|
CA340146308 rs1553141411 |
288 | T>A | No |
ClinGen Ensembl |
|
|
CA827082 rs770462671 |
288 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303672543 CA340146292 |
290 | N>S | No |
ClinGen gnomAD |
|
|
rs1467728478 CA340146284 |
291 | C>Y | No |
ClinGen gnomAD |
|
|
CA827063 rs192298497 |
295 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1220960888 CA340146233 |
296 | P>L | No |
ClinGen gnomAD |
|
|
rs772464710 CA827062 |
297 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA827061 rs748751819 |
299 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA827060 rs201222735 |
299 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747780572 CA21855230 |
300 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA827058 rs747780572 |
300 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21855199 rs1030357084 |
301 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs540919061 CA827057 |
303 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779980860 CA827054 |
304 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs758350727 CA340146183 |
305 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758350727 CA827053 |
305 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774581306 CA827052 |
306 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340146170 rs1459252097 |
307 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA827051 rs187399031 |
310 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340146135 rs1169542433 |
313 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA21855170 rs757381218 |
314 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA827050 rs757381218 |
314 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA827049 rs202078785 |
315 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs558510789 CA827048 |
315 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA827047 rs761034307 |
316 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs372157706 CA21855120 |
317 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372157706 CA827045 |
317 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA827044 rs760088342 |
317 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA21855095 rs964520189 |
318 | E>* | No |
ClinGen TOPMed |
|
|
rs964520189 CA21855103 |
318 | E>K | No |
ClinGen TOPMed |
|
|
CA21855074 rs1002024865 |
318 | E>V | No |
ClinGen TOPMed |
|
|
CA21855059 rs911701591 |
320 | E>D | No |
ClinGen TOPMed |
|
|
rs775045482 CA340146098 |
320 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA827043 rs775045482 |
320 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212783818 CA340146074 |
323 | R>K | No |
ClinGen TOPMed |
|
|
rs761480948 CA827040 |
326 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs776277427 CA827039 |
328 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs201509765 CA827038 |
328 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201995698 CA827036 |
329 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1253398678 CA340146034 |
329 | P>S | No |
ClinGen TOPMed |
|
|
CA21854990 rs780678665 |
332 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778883567 CA827033 |
332 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs780678665 CA827034 |
332 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770868637 CA827012 |
334 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs531569648 CA827011 |
336 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756265297 CA827009 |
339 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA21854761 rs1013137177 |
342 | K>T | No |
ClinGen Ensembl |
|
|
rs778298692 CA827008 |
343 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs781628728 CA827007 |
343 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340145936 rs1319621583 |
344 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 345 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1570630361 CA340145926 |
346 | S>P | No |
ClinGen Ensembl |
|
|
rs1285265992 CA340145920 |
347 | L>M | No |
ClinGen gnomAD |
|
|
CA827004 rs568920890 |
351 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 353 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs549019875 CA340145876 |
353 | H>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs549019875 CA827002 |
353 | H>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340145853 rs1159805886 |
356 | P>L | No |
ClinGen gnomAD |
|
|
CA21854691 rs1035825236 |
357 | C>G | No |
ClinGen gnomAD |
|
|
CA340145841 rs1412130373 |
358 | P>R | No |
ClinGen gnomAD |
|
|
CA826999 rs372042663 |
360 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs372042663 CA827000 |
360 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368634063 CA826998 |
360 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA340145825 rs1042510736 |
361 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA21854652 rs1042510736 |
361 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA340145816 rs1488017368 |
363 | W>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs904145271 CA21854637 |
365 | S>P | No |
ClinGen TOPMed |
|
|
CA826996 rs370584045 |
366 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770863608 CA826995 |
366 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA826994 rs367995087 |
367 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769758182 CA826993 |
367 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA826990 rs56051744 |
370 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA826989 rs755269843 |
371 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA826988 rs747335305 |
374 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA826987 rs373750301 |
374 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1348632597 CA340145729 |
377 | P>A | No |
ClinGen gnomAD |
|
|
rs758849663 CA826986 |
377 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA826985 rs201715014 |
378 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340145725 rs201715014 |
378 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA826983 rs370236224 |
378 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA826984 rs201715014 |
378 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377003152 CA21854558 |
379 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs868170855 CA21854555 |
380 | V>L | No |
ClinGen Ensembl |
|
|
CA826981 rs767108308 |
381 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21854534 rs942098463 |
382 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA826980 rs759218943 |
382 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340145673 rs1413085179 |
386 | Y>* | No |
ClinGen TOPMed |
|
|
CA340145680 rs1451986346 |
386 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
CA340145668 rs1472470138 |
387 | Y>C | No |
ClinGen TOPMed |
|
|
rs201020304 CA826978 |
388 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs866424078 CA21854481 |
390 | R>* | No |
ClinGen TOPMed |
|
|
rs762871845 CA826977 |
390 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA826975 rs562289391 |
393 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371040096 CA21854421 |
394 | A>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs748185854 CA826974 |
394 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA826973 rs377415756 |
395 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs545470915 CA826971 |
395 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs545470915 CA826972 |
395 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408951162 CA340145576 |
396 | T>A | No |
ClinGen gnomAD |
|
|
rs780384466 CA826970 |
396 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs758689024 CA826969 |
397 | P>R | No |
ClinGen ExAC |
|
|
rs1176912536 CA340145563 |
397 | P>S | No |
ClinGen gnomAD |
|
|
CA340145521 rs1173010408 |
400 | N>S | No |
ClinGen gnomAD |
|
|
CA340145465 rs1431540303 |
404 | A>V | No |
ClinGen gnomAD |
|
|
rs189814141 CA826968 |
405 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340145455 rs1469428926 |
405 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs369231197 CA826966 |
406 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1254731628 CA340145427 |
407 | D>A | No |
ClinGen gnomAD |
|
|
CA826965 rs752163664 |
407 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA340145429 rs1254731628 |
407 | D>G | No |
ClinGen gnomAD |
|
|
CA340145403 rs1230977352 |
409 | M>L | No |
ClinGen gnomAD |
|
|
rs1457108206 CA340145381 |
410 | G>E | No |
ClinGen gnomAD |
|
|
CA340145373 rs1258308656 |
411 | G>D | No |
ClinGen gnomAD |
|
|
rs1309983365 CA340145320 |
415 | F>L | No |
ClinGen gnomAD |
|
|
rs1215440243 CA340145299 |
416 | F>S | No |
ClinGen gnomAD |
|
|
rs1570629815 CA340145284 |
417 | D>G | No |
ClinGen Ensembl |
|
|
rs754538251 CA826962 |
418 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340145239 rs766059844 |
420 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA826959 rs762597952 |
421 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA340145230 rs1446517267 |
421 | K>R | No |
ClinGen gnomAD |
|
|
CA340145218 rs1378063455 |
422 | S>F | No |
ClinGen gnomAD |
|
|
rs752113384 CA21854334 |
423 | V>F | No |
ClinGen Ensembl |
|
|
rs765042054 CA826958 |
424 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs765042054 CA826957 |
424 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1557535652 CA340145164 |
427 | V>A | No |
ClinGen Ensembl |
|
|
CA340145137 rs1358691584 |
429 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1358691584 CA340145134 |
429 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs761808123 CA826956 |
431 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1415028013 CA340145103 |
432 | A>T | No |
ClinGen gnomAD |
|
|
rs776755807 CA826955 |
433 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21854310 rs776755807 |
433 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768846131 CA826954 |
435 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369028073 CA826950 |
436 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369028073 CA826951 |
436 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA826952 rs144473968 |
436 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA826947 rs200035854 |
438 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779367877 CA826948 |
438 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1389363723 CA340145012 |
439 | P>L | No |
ClinGen TOPMed |
|
|
rs1349335907 CA340145019 |
439 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1349335907 CA340145020 |
439 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA826945 rs778317396 |
441 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557535563 CA340144975 |
443 | W>R | No |
ClinGen Ensembl |
|
|
CA340144969 rs1570629571 |
443 | W>S | No |
ClinGen Ensembl |
|
|
rs751082958 CA826943 |
445 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA826942 rs779523092 |
446 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA826941 rs758096680 |
447 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs750079608 CA826938 |
450 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA826936 rs761755124 |
451 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs573693701 CA826935 |
452 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs56161320 CA21854168 |
452 | R>H | No |
ClinGen Ensembl |
|
|
rs753719830 CA826933 |
453 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753719830 CA826932 |
453 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764135549 CA826934 |
453 | R>W | Variant assessed as Somatic; 4.649e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA826930 rs772146409 |
454 | W>* | No |
ClinGen ExAC |
|
|
rs17853159 CA826929 |
455 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372877245 CA826927 |
455 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs372877245 CA826928 |
455 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340144801 rs1557535448 |
457 | L>S | No |
ClinGen Ensembl |
|
|
CA826926 rs749656797 |
460 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243086479 CA340144727 |
463 | F>L | No |
ClinGen gnomAD |
|
|
rs868040160 CA21854120 |
463 | F>S | No |
ClinGen Ensembl |
|
|
CA340144711 CA340144714 rs746459077 |
464 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323713106 CA340144699 |
465 | H>L | No |
ClinGen TOPMed |
|
|
CA340144661 rs200308667 |
467 | E>D | No |
ClinGen gnomAD |
|
|
CA826922 rs779581665 |
469 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA340144647 rs1313741651 |
469 | C>R | No |
ClinGen gnomAD |
|
|
CA340144626 rs1338573811 |
470 | P>L | No |
ClinGen gnomAD |
|
|
rs757891839 CA826921 |
471 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA826920 rs745518746 |
471 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 472 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199827698 CA340144584 |
474 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199827698 CA826917 |
474 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA826918 rs139447263 |
474 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340144580 rs1165254246 |
475 | E>K | No |
ClinGen gnomAD |
|
|
rs942114035 CA21854076 |
476 | E>D | No |
ClinGen Ensembl |
|
|
CA826916 rs764078445 |
477 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21854044 rs764078445 |
477 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1488298104 CA340144530 |
478 | L>P | No |
ClinGen gnomAD |
|
|
CA340144523 rs1208534329 |
479 | S>P | No |
ClinGen gnomAD |
|
|
CA340144480 rs1316280869 |
482 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA21854014 rs991485859 |
483 | P>S | No |
ClinGen Ensembl |
|
|
rs754978881 CA21854011 |
485 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA826911 rs186592461 |
485 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1214585137 CA340144433 |
487 | S>N | No |
ClinGen gnomAD |
|
|
rs763137110 CA21854006 |
488 | S>T | No |
ClinGen Ensembl |
|
|
rs774564175 CA826910 |
489 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA826909 rs373927435 |
492 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340144365 rs373927435 |
492 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA826907 rs763253337 |
494 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1570628960 CA340144309 |
496 | I>T | No |
ClinGen Ensembl |
|
|
rs1169432636 CA340144313 |
496 | I>V | No |
ClinGen gnomAD |
|
|
CA21853996 rs375456718 |
497 | P>L | No |
ClinGen Ensembl |
|
|
rs748662733 CA826904 |
497 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771605312 CA826902 |
498 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 498 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA826900 rs778652066 |
500 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA826901 rs201896771 |
500 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs930734528 CA21853975 |
501 | A>T | No |
ClinGen TOPMed |
|
|
rs1257706000 CA340144233 |
503 | A>S | No |
ClinGen gnomAD |
|
|
rs370243637 CA826899 |
505 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1341266304 CA340144207 |
505 | P>L | No |
ClinGen TOPMed |
|
|
CA340144196 rs1231061018 |
506 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA340144204 rs1254293969 |
506 | A>S | No |
ClinGen gnomAD |
|
|
CA340144195 rs1231061018 |
506 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA21853974 rs200289256 |
508 | Q>R | No |
ClinGen Ensembl |
|
|
CA826898 rs749056420 |
509 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA340144165 rs1330433025 |
509 | A>S | No |
ClinGen gnomAD |
|
|
CA340144163 rs749056420 |
509 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1331670830 CA340144142 |
511 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 511 | E>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA826897 rs777684207 |
512 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA826896 rs755915471 |
513 | M>I | No |
ClinGen ExAC |
|
|
rs1485210549 CA736169409 |
515 | C>* | No |
ClinGen TOPMed |
|
|
CA826895 rs752669723 |
515 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA826894 rs767358900 |
515 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA340144053 rs1256296049 |
517 | I>T | No |
ClinGen TOPMed |
|
|
CA340144057 rs1201649403 |
517 | I>V | No |
ClinGen TOPMed |
|
|
CA826893 rs755024982 |
518 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs190893946 CA21853943 |
518 | L>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs958060494 CA21853939 |
523 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1413817302 CA340143973 |
523 | G>S | No |
ClinGen TOPMed |
|
|
CA340143928 rs1196008864 |
526 | S>F | No |
ClinGen gnomAD |
|
|
CA340143937 rs1396216847 |
526 | S>T | No |
ClinGen gnomAD |
|
|
rs202038347 CA826890 |
528 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763131301 CA826889 |
530 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs777131009 CA826885 |
534 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA826886 rs762149049 |
534 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA826883 rs745335345 |
536 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA826881 rs770608741 |
538 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA826880 rs748929918 |
540 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA826878 rs769629766 |
541 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781132402 CA826876 |
542 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA826877 rs747906747 |
542 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA340143737 rs1236109300 |
542 | M>V | No |
ClinGen TOPMed |
|
|
rs1418379084 CA340143723 |
543 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1418379084 CA340143721 |
543 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1007257112 CA21853868 |
544 | V>A | No |
ClinGen Ensembl |
|
|
CA340143696 rs1159495047 |
545 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA826875 rs754900158 |
546 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs967794685 CA21853839 |
546 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA826874 rs751534657 |
546 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21853859 rs754900158 |
546 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340143671 rs1405564654 |
547 | R>G | No |
ClinGen TOPMed |
|
|
rs1028686622 CA21853835 |
552 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA340143592 rs1212985091 |
554 | A>P | No |
ClinGen gnomAD |
|
|
CA826873 rs780085448 |
555 | T>A | No |
ClinGen ExAC TOPMed |
|
|
CA826871 rs750637742 |
556 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA826869 rs56030694 |
556 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765379619 CA826870 |
556 | F>S | No |
ClinGen ExAC |
|
|
rs566882803 CA826868 |
559 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764622589 CA826867 |
560 | G>S | No |
ClinGen ExAC TOPMed |
|
|
CA21853805 rs897705401 |
564 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs965743296 CA21853802 |
566 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA826864 rs201686349 |
566 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA826863 rs762621176 |
567 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs772939681 CA826862 |
570 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs187052582 CA21853770 |
571 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs187052582 CA826861 |
571 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
No associated diseases with Q96S53
9 regional properties for Q96S53
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | ABC transporter-like, ATP-binding domain | 423 - 646 | IPR003439-1 |
| domain | ABC transporter-like, ATP-binding domain | 1211 - 1444 | IPR003439-2 |
| domain | AAA+ ATPase domain | 450 - 639 | IPR003593-1 |
| domain | AAA+ ATPase domain | 1237 - 1419 | IPR003593-2 |
| domain | ABC transporter type 1, transmembrane domain | 82 - 350 | IPR011527-1 |
| domain | ABC transporter type 1, transmembrane domain | 860 - 1158 | IPR011527-2 |
| conserved_site | ABC transporter-like, conserved site | 548 - 562 | IPR017871 |
| domain | CFTR regulator domain | 639 - 849 | IPR025837 |
| domain | Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette domain 1 | 389 - 670 | IPR047082 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.12.1 | Dual-specificity kinases (those acting on Ser/Thr and Tyr residues) |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
7 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. |
| protein serine/threonine/tyrosine kinase activity | Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
| protein tyrosine kinase activity | Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
| focal adhesion assembly | The aggregation and bonding together of a set of components to form a focal adhesion, a complex of intracellular signaling and structural proteins that provides a structural link between the internal actin cytoskeleton and the ECM, and also function as a locus of signal transduction activity. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P53671 | LIMK2 | LIM domain kinase 2 | Homo sapiens (Human) | PR |
| P53667 | LIMK1 | LIM domain kinase 1 | Homo sapiens (Human) | PR |
| O54785 | Limk2 | LIM domain kinase 2 | Mus musculus (Mouse) | PR |
| Q8VCT9 | Tesk2 | Dual specificity testis-specific protein kinase 2 | Mus musculus (Mouse) | PR |
| Q924U5 | Tesk2 | Dual specificity testis-specific protein kinase 2 | Rattus norvegicus (Rat) | PR |
| O81291 | LECRK44 | L-type lectin-domain containing receptor kinase IV.4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P93050 | BSH | Probable LRR receptor-like serine/threonine-protein kinase RKF3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8RWW0 | ALE2 | Receptor-like serine/threonine-protein kinase ALE2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9M345 | LECRK42 | L-type lectin-domain containing receptor kinase IV.2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LDQ3 | CRK34 | Cysteine-rich receptor-like protein kinase 34 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDRSKRNSIA | GFPPRVERLE | EFEGGGGGEG | NVSQVGRVWP | SSYRALISAF | SRLTRLDDFT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CEKIGSGFFS | EVFKVRHRAS | GQVMALKMNT | LSSNRANMLK | EVQLMNRLSH | PNILRFMGVC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VHQGQLHALT | EYINSGNLEQ | LLDSNLHLPW | TVRVKLAYDI | AVGLSYLHFK | GIFHRDLTSK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NCLIKRDENG | YSAVVADFGL | AEKIPDVSMG | SEKLAVVGSP | FWMAPEVLRD | EPYNEKADVF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SYGIILCEII | ARIQADPDYL | PRTENFGLDY | DAFQHMVGDC | PPDFLQLTFN | CCNMDPKLRP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SFVEIGKTLE | EILSRLQEEE | QERDRKLQPT | ARGLLEKAPG | VKRLSSLDDK | IPHKSPCPRR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TIWLSRSQSD | IFSRKPPRTV | SVLDPYYRPR | DGAARTPKVN | PFSARQDLMG | GKIKFFDLPS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KSVISLVFDL | DAPGPGTMPL | ADWQEPLAPP | IRRWRSLPGS | PEFLHQEACP | FVGREESLSD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GPPPRLSSLK | YRVKEIPPFR | ASALPAAQAH | EAMDCSILQE | ENGFGSRPQG | TSPCPAGASE |
| 550 | 560 | 570 | |||
| EMEVEERPAG | STPATFSTSG | IGLQTQGKQD | G |