O95819
PR
Gene name |
MAP4K4 (HGK, KIAA0687, NIK) |
Protein name |
Mitogen-activated protein kinase kinase kinase kinase 4 |
Names |
HPK/GCK-like kinase HGK, MAPK/ERK kinase kinase kinase 4, MEK kinase kinase 4, MEKKK 4, Nck-interacting kinase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9448 |
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
18 structures for O95819
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4OBO | X-ray | 210 A | A/B | 2-328 | PDB |
| 4OBP | X-ray | 227 A | A/B | 2-328 | PDB |
| 4OBQ | X-ray | 219 A | A/B | 2-328 | PDB |
| 4RVT | X-ray | 240 A | A/B | 1-325 | PDB |
| 4U3Y | X-ray | 145 A | A/B | 2-328 | PDB |
| 4U3Z | X-ray | 209 A | A/B | 2-328 | PDB |
| 4U40 | X-ray | 230 A | A/B | 2-328 | PDB |
| 4U41 | X-ray | 220 A | A/B | 2-328 | PDB |
| 4U42 | X-ray | 250 A | A/B | 2-328 | PDB |
| 4U43 | X-ray | 218 A | A/B | 2-328 | PDB |
| 4U44 | X-ray | 243 A | A/B | 2-328 | PDB |
| 4U45 | X-ray | 258 A | A/B | 2-328 | PDB |
| 4ZK5 | X-ray | 289 A | A/B | 2-328 | PDB |
| 4ZP5 | X-ray | 229 A | A/B | 1-309 | PDB |
| 5DI1 | X-ray | 290 A | A/B | 1-310 | PDB |
| 5J95 | X-ray | 250 A | A/B | 2-313 | PDB |
| 5W5Q | X-ray | 233 A | A/B | 2-328 | PDB |
| AF-O95819-F1 | Predicted | AlphaFoldDB |
644 variants for O95819
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA1806991 RCV000656330 rs781410462 |
565 | R>Q | Cerebral arteriovenous malformation [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| TCGA novel | 2 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347975800 rs372199776 |
3 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1806578 rs750177799 |
4 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 5 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1422015880 CA347975817 |
6 | P>S | No |
ClinGen gnomAD |
|
|
CA347975828 rs1219694544 |
8 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 10 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs528526971 CA1806584 |
13 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347975869 rs1272906618 |
14 | D>N | No |
ClinGen TOPMed |
|
|
CA347975891 rs1335683836 |
17 | S>Y | No |
ClinGen gnomAD |
|
|
rs775210198 CA1806633 |
22 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA347975968 rs1263705072 |
27 | L>P | No |
ClinGen gnomAD |
|
|
rs763682365 CA1806635 |
27 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1247613496 CA347976025 |
36 | Y>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 39 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1806640 rs755352398 |
40 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 43 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 45 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347976102 rs1208456538 |
46 | K>Q | No |
ClinGen gnomAD |
|
|
rs1235107648 CA347976115 |
47 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1806669 rs376492613 |
48 | G>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1239475028 CA347976163 |
55 | V>I | No |
ClinGen TOPMed |
|
|
CA347976182 rs1471305706 |
57 | D>G | No |
ClinGen gnomAD |
|
|
CA347976180 rs1250371319 |
57 | D>Y | No |
ClinGen gnomAD |
|
|
CA347976193 rs1558939686 |
59 | T>P | No |
ClinGen Ensembl |
|
|
rs1252390848 CA347976814 |
61 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 66 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347976957 rs1321455526 |
71 | N>D | No |
ClinGen TOPMed |
|
|
rs1408672619 CA347976985 |
73 | L>V | No |
ClinGen gnomAD |
|
|
CA347977047 rs1216879809 |
78 | H>N | No |
ClinGen TOPMed |
|
|
CA53307073 rs974642755 |
80 | R>K | No |
ClinGen gnomAD |
|
|
rs1190390421 CA347977108 |
82 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA347977145 rs55856263 |
85 | Y>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 85 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1427682991 CA347977195 |
90 | I>V | No |
ClinGen gnomAD |
|
|
rs935878606 CA53307074 |
93 | S>R | No |
ClinGen Ensembl |
|
|
CA347977287 rs1482809315 |
98 | D>N | No |
ClinGen gnomAD |
|
|
CA53307075 rs867449693 |
100 | Q>* | No |
ClinGen Ensembl |
|
|
rs1390113038 CA347977414 |
103 | L>F | No |
ClinGen gnomAD |
|
|
CA347977478 rs1323746856 |
108 | C>Y | No |
ClinGen gnomAD |
|
|
rs1351156709 CA347977517 |
113 | I>V | No |
ClinGen gnomAD |
|
|
rs765225661 CA1806733 |
121 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 123 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1388049230 CA347977649 |
124 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 127 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347977740 rs1364414034 |
131 | A>S | No |
ClinGen gnomAD |
|
|
rs1322468820 CA347977760 |
133 | I>L | No |
ClinGen gnomAD |
|
|
CA347977906 rs1254830144 |
142 | A>T | No |
ClinGen gnomAD |
|
|
CA347977958 rs1182529595 |
146 | I>L | No |
ClinGen gnomAD |
|
|
rs1410767752 CA347977972 |
147 | H>N | No |
ClinGen gnomAD |
|
|
rs751406853 CA1806754 |
147 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780950846 CA1806756 |
148 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347977995 rs1359692414 |
148 | H>Y | No |
ClinGen gnomAD |
|
|
CA347978008 rs1310961140 |
149 | V>M | No |
ClinGen gnomAD |
|
|
CA347978065 rs749844971 |
152 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1228631035 CA347978137 |
156 | G>S | No |
ClinGen TOPMed |
|
|
CA347978163 rs1182240330 |
157 | Q>E | No |
ClinGen gnomAD |
|
|
CA347978192 rs1371387917 |
159 | V>M | No |
ClinGen gnomAD |
|
|
CA53307614 rs746630060 |
162 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA53307615 rs945638324 |
165 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs779521702 CA1806759 |
170 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA347978871 rs1467706026 |
184 | R>Q | No |
ClinGen gnomAD |
|
|
rs1211624298 CA347978942 |
187 | T>M | No |
ClinGen gnomAD |
|
| TCGA novel | 190 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 198 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1473822922 CA347979398 |
212 | Y>* | No |
ClinGen gnomAD |
|
|
rs1350667772 CA347979846 |
232 | P>S | No |
ClinGen gnomAD |
|
|
rs945488941 CA53308299 |
234 | C>R | No |
ClinGen TOPMed |
|
| TCGA novel | 235 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347979972 rs762374702 |
236 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs762374702 CA1806823 |
236 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 238 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1806824 rs768067515 |
245 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1806825 rs368448477 |
249 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1393833835 CA347980112 |
249 | P>S | No |
ClinGen gnomAD |
|
|
CA53308300 rs868663062 |
250 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1169753598 CA347980132 |
252 | R>G | No |
ClinGen gnomAD |
|
|
CA53308301 rs371917259 |
252 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1806826 rs756472521 |
253 | L>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 254 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 257 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs774203808 | 257 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 258 | W>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 262 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA52830885 rs773869416 |
266 | I>V | No |
ClinGen gnomAD |
|
|
CA347905368 rs1163720801 |
268 | G>R | No |
ClinGen gnomAD |
|
|
CA347905563 rs1321149450 |
275 | M>I | No |
ClinGen gnomAD |
|
|
CA347905571 rs1361118802 |
276 | Q>* | No |
ClinGen gnomAD |
|
|
rs769374977 CA52830924 |
281 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762381643 CA1806844 |
287 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA52830937 rs866505635 |
292 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1806846 rs373273159 |
293 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 293 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1806847 rs760979075 |
294 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 295 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 303 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1806850 rs755225334 |
305 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA1806851 rs779064004 |
308 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs138586532 CA1806852 |
308 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347906406 rs1344571152 |
315 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 316 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347907817 rs1576604956 |
326 | S>R | No |
ClinGen Ensembl |
|
|
CA347907834 rs1178222976 |
327 | E>D | No |
ClinGen gnomAD |
|
|
rs1444787842 CA347907954 |
334 | P>R | No |
ClinGen TOPMed |
|
|
CA1806868 rs759833561 |
334 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181145167 CA347908249 |
343 | I>V | No |
ClinGen TOPMed |
|
|
rs1352923057 CA347908292 |
346 | V>M | No |
ClinGen gnomAD |
|
|
rs1326951973 CA347908355 |
350 | S>P | No |
ClinGen gnomAD |
|
|
CA347908411 rs1439407435 |
354 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1238457086 CA347908597 |
366 | R>C | No |
ClinGen TOPMed |
|
|
CA347908600 rs1305348193 |
366 | R>H | No |
ClinGen gnomAD |
|
|
CA347908650 rs1253435496 |
369 | A>P | No |
ClinGen gnomAD |
|
|
rs765546057 CA1806889 |
369 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1395893804 CA347908662 |
370 | L>V | No |
ClinGen TOPMed |
|
|
CA1806890 rs775976851 |
371 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA347908675 rs1191731616 |
371 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA347908720 rs1475790732 |
374 | Q>P | No |
ClinGen gnomAD |
|
|
CA1806892 rs374166171 |
377 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1806893 rs751628814 |
380 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs532710355 CA1806895 |
382 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1806894 rs757412660 |
382 | R>W | No |
ClinGen ExAC TOPMed |
|
|
CA52833946 rs956862332 |
386 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA347908914 rs1426323632 |
389 | R>K | No |
ClinGen TOPMed |
|
|
CA347908942 rs1385570612 |
393 | A>V | No |
ClinGen TOPMed |
|
|
rs1460205391 CA347908959 |
396 | Q>E | No |
ClinGen gnomAD |
|
|
rs1323139694 CA347908975 |
398 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA347908986 rs1327468550 |
400 | E>K | No |
ClinGen gnomAD |
|
|
rs1430849006 CA347908996 |
401 | Q>E | No |
ClinGen gnomAD |
|
|
CA347909042 rs1164068604 |
407 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs750347302 CA1806896 |
407 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1806898 rs779680789 |
408 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377621157 CA1806897 |
408 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347911160 rs1416085466 |
417 | R>Q | No |
ClinGen gnomAD |
|
|
CA347911155 rs1342984228 |
417 | R>W | No |
ClinGen gnomAD |
|
|
rs1231263139 CA347911208 |
420 | R>K | No |
ClinGen gnomAD |
|
|
CA347911229 rs1281111984 |
421 | R>K | No |
ClinGen gnomAD |
|
|
CA347911265 rs1351105434 |
423 | Q>R | No |
ClinGen gnomAD |
|
|
rs1029683478 CA52839349 |
425 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA347911307 rs1559204080 |
426 | E>A | No |
ClinGen Ensembl |
|
|
rs1282055770 CA347911341 |
428 | R>Q | No |
ClinGen gnomAD |
|
|
rs957597333 CA52839352 |
432 | Q>R | No |
ClinGen gnomAD |
|
|
rs1486695428 CA347911438 |
434 | E>G | No |
ClinGen gnomAD |
|
|
rs1211622113 CA347911473 |
436 | R>M | No |
ClinGen gnomAD |
|
|
rs767937569 CA52839358 |
437 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1806906 rs368647388 |
437 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368647388 CA347911491 |
437 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1184579294 CA347911495 |
438 | L>V | No |
ClinGen gnomAD |
|
|
rs775996617 CA1806907 |
440 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA347911549 rs1449102621 |
441 | L>S | No |
ClinGen TOPMed |
|
|
CA52839365 rs372525827 |
442 | E>Q | No |
ClinGen Ensembl |
|
|
rs1157407232 CA347911606 |
445 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1327661985 CA347911616 |
445 | R>H | No |
ClinGen TOPMed |
|
|
CA347911667 rs1367170897 |
448 | E>Q | No |
ClinGen gnomAD |
|
|
rs1374287992 CA347911726 |
451 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 453 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1330457134 CA347911739 |
453 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1336196586 CA347911743 |
454 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA347911784 rs1356633633 |
459 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1349910399 CA347911788 |
460 | R>G | No |
ClinGen gnomAD |
|
|
rs528810915 CA1806911 |
461 | V>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1235163121 CA347911795 |
461 | V>I | No |
ClinGen gnomAD |
|
|
rs928706650 CA52839385 |
464 | E>V | No |
ClinGen Ensembl |
|
|
CA52840313 rs992606913 |
468 | I>S | No |
ClinGen Ensembl |
|
|
rs758121433 CA1806922 |
468 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347912978 rs1229619992 |
470 | R>* | No |
ClinGen gnomAD |
|
|
CA347912980 rs1182995037 |
470 | R>Q | No |
ClinGen TOPMed |
|
|
CA52840317 rs917926668 |
471 | Q>H | No |
ClinGen Ensembl |
|
|
CA347913011 rs1252124092 |
472 | L>V | No |
ClinGen gnomAD |
|
|
CA52840326 rs980383229 |
477 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1806924 rs746600320 |
477 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs770192457 CA1806925 |
478 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA347913091 rs1206079818 |
479 | L>W | No |
ClinGen TOPMed |
|
|
rs780708201 CA1806926 |
481 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749626652 CA1806927 |
482 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA347913164 rs1261941474 |
483 | Q>R | No |
ClinGen TOPMed |
|
|
CA347913207 rs1241842237 |
485 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs774902440 CA1806929 |
485 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1165774053 CA347913368 |
494 | L>P | No |
ClinGen gnomAD |
|
|
CA347913518 rs1295360049 |
496 | C>R | No |
ClinGen gnomAD |
|
|
CA347913520 rs1356278858 |
496 | C>Y | No |
ClinGen gnomAD |
|
|
CA52840551 rs1002037530 |
497 | R>* | No |
ClinGen TOPMed |
|
|
rs772128002 CA1806948 |
497 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1319086884 CA347913559 |
498 | W>S | No |
ClinGen gnomAD |
|
|
rs374370469 CA52840561 |
499 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374370469 CA1806950 |
499 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1806949 rs773487036 |
499 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs771021805 CA1806951 |
500 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1485772173 CA347913609 |
501 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA1806952 rs776742471 |
501 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA347913646 rs1317950719 |
503 | E>K | No |
ClinGen TOPMed |
|
|
rs765227761 CA1806954 |
505 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159749928 CA347913728 |
506 | Q>K | No |
ClinGen gnomAD |
|
|
rs1363096219 CA347913747 |
506 | Q>L | No |
ClinGen gnomAD |
|
|
CA347913802 rs1417958339 |
508 | E>Q | No |
ClinGen gnomAD |
|
|
rs1314781056 CA347913908 |
511 | Q>L | No |
ClinGen gnomAD |
|
|
CA1806956 rs762823145 |
512 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA52840575 rs992712884 |
513 | Q>* | No |
ClinGen TOPMed |
|
|
CA1806957 rs763610307 |
513 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1806959 rs377671536 |
515 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767102279 CA1806960 |
517 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA52840599 rs866900799 |
518 | Q>K | No |
ClinGen Ensembl |
|
|
CA347914053 rs1306934464 |
518 | Q>R | No |
ClinGen gnomAD |
|
|
rs1228474024 CA347914075 |
519 | A>V | No |
ClinGen gnomAD |
|
|
CA347914093 rs1281902801 |
520 | Y>C | No |
ClinGen gnomAD |
|
|
rs1237365488 CA347914089 |
520 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA347914126 rs1347956000 |
522 | L>P | No |
ClinGen gnomAD |
|
|
rs1209791165 CA347914150 |
523 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 527 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347914260 rs1235317065 |
529 | R>G | No |
ClinGen gnomAD |
|
|
rs978627982 CA1806961 |
531 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA347914313 rs1576920493 |
532 | H>P | No |
ClinGen Ensembl |
|
|
CA1806964 rs755526358 |
532 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1806967 rs61741751 |
533 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA52840630 rs61741751 |
533 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1806969 rs758823238 |
536 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395835503 CA347914360 |
536 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA347914359 rs1395835503 |
536 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs771183594 CA1806972 |
537 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA1806973 rs776691332 |
538 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA52840644 rs949605261 |
539 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs775505116 CA1806977 |
540 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1293177076 CA347914424 |
541 | P>L | No |
ClinGen TOPMed |
|
|
rs1232849580 CA347914434 |
542 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1308849887 CA347914445 |
543 | Q>L | No |
ClinGen gnomAD |
|
|
rs1204736633 CA347914466 |
545 | E>K | No |
ClinGen gnomAD |
|
|
CA347914504 rs1456270801 |
547 | S>N | No |
ClinGen gnomAD |
|
|
rs1456270801 CA347914506 |
547 | S>T | No |
ClinGen gnomAD |
|
|
rs1183008473 CA347914545 |
550 | S>G | No |
ClinGen gnomAD |
|
|
rs761550452 CA347914552 |
550 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1806981 rs761550452 |
550 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453887818 CA347914573 |
551 | F>L | No |
ClinGen gnomAD |
|
|
rs994446124 CA52840657 |
552 | H>Q | No |
ClinGen TOPMed |
|
|
rs767335538 CA1806982 |
552 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347914595 rs1421954826 |
553 | A>V | No |
ClinGen gnomAD |
|
|
rs760266370 CA1806984 |
555 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA347914631 rs1456317299 |
556 | P>A | No |
ClinGen TOPMed |
|
|
rs765621970 CA1806985 |
556 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 556 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1435165510 CA347914652 |
559 | H>L | No |
ClinGen gnomAD |
|
|
CA347914656 rs1272607935 |
559 | H>Q | No |
ClinGen gnomAD |
|
|
CA347914653 rs1435165510 |
559 | H>R | No |
ClinGen gnomAD |
|
|
rs1436345005 CA347914661 |
560 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA347914666 rs1214859627 |
561 | E>Q | No |
ClinGen gnomAD |
|
|
CA347914676 rs1277179879 |
562 | P>H | No |
ClinGen gnomAD |
|
|
CA1806990 rs751991039 |
565 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1806993 rs200603698 |
566 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1806995 rs564269420 |
567 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347914708 rs1270018587 |
568 | E>A | No |
ClinGen TOPMed |
|
|
rs758984866 CA1807021 |
572 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA347915172 rs1393767712 |
573 | F>L | No |
ClinGen gnomAD |
|
|
CA347915217 rs1576942433 |
576 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 578 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1807022 rs764598259 |
578 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1336101195 CA347915260 |
578 | H>Y | No |
ClinGen gnomAD |
|
|
CA1807025 rs767832475 |
581 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347915335 rs767832475 |
581 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1807024 rs762352729 |
581 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA52840955 rs971061135 |
582 | E>D | No |
ClinGen Ensembl |
|
|
CA1807026 rs750851531 |
583 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA1807027 rs756344700 |
586 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197745221 CA347915429 |
586 | K>N | No |
ClinGen gnomAD |
|
|
CA347915470 rs1559226855 |
589 | G>S | No |
ClinGen Ensembl |
|
|
rs572481216 CA1807030 |
592 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368035914 CA1807031 |
594 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1807032 rs371929766 |
599 | R>L | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA347915661 rs371929766 |
599 | R>P | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs371929766 CA1807033 |
599 | R>Q | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1301741891 CA347915737 |
604 | S>P | No |
ClinGen gnomAD |
|
|
CA1807035 rs746840228 |
605 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA347915750 rs1464270892 |
605 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1169267800 CA347915757 |
606 | G>S | No |
ClinGen gnomAD |
|
|
rs1576944111 CA347915779 |
607 | N>T | No |
ClinGen Ensembl |
|
|
rs866772412 CA52840976 |
608 | S>F | No |
ClinGen Ensembl |
|
|
CA347915808 rs1490984942 |
609 | E>D | No |
ClinGen TOPMed |
|
|
rs770562753 CA1807036 |
609 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 610 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1807037 rs776155398 |
610 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1266488586 CA347915814 |
610 | S>Y | No |
ClinGen TOPMed |
|
|
rs1229481941 CA347915821 |
611 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1229481941 CA347915820 |
611 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs745347561 CA1807038 |
612 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs769213670 CA1807039 |
613 | P>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 613 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347915840 rs1218835610 |
614 | A>D | No |
ClinGen TOPMed |
|
|
rs181612739 CA1807041 |
614 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 614 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347915864 rs1270986332 |
618 | P>A | No |
ClinGen gnomAD |
|
|
rs1339672347 CA347915870 |
619 | A>P | No |
ClinGen TOPMed |
|
|
rs201446088 CA1807043 |
619 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 624 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1277385716 CA347917456 |
624 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA347917455 rs1277385716 |
624 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA52841899 rs923848043 |
624 | P>S | No |
ClinGen gnomAD |
|
|
CA347917479 rs1294122098 |
627 | T>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 629 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868040944 CA52841900 |
629 | S>Y | No |
ClinGen Ensembl |
|
|
CA347917493 rs1315825866 |
630 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs370976722 CA1807114 |
630 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347917508 rs1321212017 |
632 | P>L | No |
ClinGen gnomAD |
|
|
rs56048147 CA347917521 |
635 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs56048147 CA1807115 |
635 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753690528 CA1807116 |
636 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs752991685 CA52841904 |
636 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752991685 CA1807117 |
636 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1807118 rs764946182 |
637 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA1807119 rs752088917 |
639 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1413639324 CA347917548 |
640 | P>S | No |
ClinGen gnomAD |
|
|
rs1231535758 CA347917556 |
641 | L>R | No |
ClinGen gnomAD |
|
|
CA1807121 rs781509074 |
642 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA347917561 rs1162135551 |
642 | Q>R | No |
ClinGen gnomAD |
|
|
rs1400294694 CA347917566 |
643 | G>R | No |
ClinGen gnomAD |
|
|
CA52841916 rs570243828 |
644 | S>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs746342350 CA1807122 |
644 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs756730726 CA1807123 |
647 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs867003204 CA52841918 |
649 | S>I | No |
ClinGen Ensembl |
|
|
CA52841920 rs917713319 |
650 | Q>E | No |
ClinGen Ensembl |
|
|
rs1284733047 CA347917623 |
651 | A>E | No |
ClinGen gnomAD |
|
|
rs1427261797 CA347917622 |
651 | A>T | No |
ClinGen Ensembl |
|
|
CA347917630 rs1355506766 |
652 | G>V | No |
ClinGen gnomAD |
|
|
rs1226512194 CA347917637 |
653 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1288321465 CA347917652 |
655 | N>I | No |
ClinGen gnomAD |
|
|
CA52841922 rs947813206 |
655 | N>K | No |
ClinGen Ensembl |
|
|
CA347917660 rs1320343278 |
657 | T>A | No |
ClinGen TOPMed |
|
|
CA52842191 rs1027452840 |
659 | I>V | No |
ClinGen TOPMed |
|
|
CA1807132 rs760592600 |
661 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs766369975 CA1807133 |
662 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs976091014 CA52842194 |
664 | L>P | No |
ClinGen Ensembl |
|
|
CA347917738 rs1377917013 |
666 | E>K | No |
ClinGen gnomAD |
|
|
rs371633174 CA52842196 |
668 | V>M | No |
ClinGen ESP |
|
|
CA1807134 rs776341213 |
669 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1807137 rs201353278 |
673 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs201353278 CA347917785 |
673 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs758022791 CA1807138 |
675 | P>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 675 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347917806 rs1400891216 |
676 | G>V | No |
ClinGen gnomAD |
|
|
rs1445914892 CA347917822 |
679 | S>G | No |
ClinGen gnomAD |
|
|
rs756626699 CA1807141 |
684 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA347917861 rs1156959906 |
685 | N>D | No |
ClinGen TOPMed |
|
|
rs1425821761 CA347917863 |
685 | N>T | No |
ClinGen TOPMed |
|
|
rs1386069517 CA347917873 |
686 | S>L | No |
ClinGen TOPMed |
|
|
CA347917877 rs1183428678 |
687 | G>E | No |
ClinGen TOPMed |
|
|
CA1807144 rs755404987 |
691 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs548736889 CA1807143 |
691 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347917920 rs1485801274 |
694 | P>S | No |
ClinGen TOPMed |
|
|
CA1807147 rs772242495 |
695 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA1807149 rs534466891 |
697 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770796909 CA1807150 |
698 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1322005562 CA347917954 |
699 | G>V | No |
ClinGen TOPMed |
|
|
rs776570846 CA1807151 |
701 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 701 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347917962 rs776570846 |
701 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs369479508 CA1807152 |
703 | R>C | Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1367108988 CA347917976 |
703 | R>H | No |
ClinGen TOPMed |
|
|
rs765920465 CA52842217 |
705 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1807153 rs769597443 |
705 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs949478810 CA52842220 |
707 | R>K | No |
ClinGen TOPMed |
|
|
CA52842222 rs949478810 |
707 | R>T | No |
ClinGen TOPMed |
|
|
CA1807156 rs763902533 |
708 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1209664902 CA347918031 |
710 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1807171 rs745792785 |
710 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA1807172 rs769673892 |
712 | S>A | No |
ClinGen ExAC gnomAD |
|
| VAR_040746 | 712 | S>T | No | UniProt | |
|
CA347918063 rs1410317583 |
715 | S>C | No |
ClinGen TOPMed |
|
|
CA347918075 rs1179532178 |
717 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA347918081 rs1356635744 |
718 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA347918082 rs1356635744 |
718 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs565727787 CA1807174 |
719 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768378384 CA1807175 |
719 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA347918087 rs768378384 |
719 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347918095 rs1487853051 |
721 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 723 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347918119 rs1424381334 |
724 | V>A | No |
ClinGen gnomAD |
|
|
CA1807177 rs761601346 |
724 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA347918131 rs1186739163 |
726 | K>Q | No |
ClinGen gnomAD |
|
|
rs1159493538 CA347918141 |
727 | P>L | No |
ClinGen gnomAD |
|
|
rs1159493538 CA347918140 |
727 | P>R | No |
ClinGen gnomAD |
|
|
CA1807179 rs749961363 |
727 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs749961363 CA347918137 |
727 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA347918159 rs1360083921 |
730 | K>E | No |
ClinGen gnomAD |
|
|
CA347918187 rs1451854371 |
733 | V>G | No |
ClinGen gnomAD |
|
|
CA1807180 rs760084118 |
736 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1174682556 CA347918209 |
737 | L>F | No |
ClinGen gnomAD |
|
|
rs1396027633 CA347918231 |
740 | A>D | No |
ClinGen gnomAD |
|
|
rs965449229 CA52845465 |
741 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA347918420 rs1353866065 |
741 | D>N | No |
ClinGen TOPMed |
|
|
CA1807226 rs767742784 |
742 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs199996114 CA347918440 |
744 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199996114 CA1807228 |
744 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199996114 CA1807229 |
744 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs754896767 CA1807231 |
746 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1193442773 CA347918458 |
747 | K>R | No |
ClinGen gnomAD |
|
|
CA1807232 rs773558529 |
748 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1807233 rs559473846 |
750 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347918494 rs1182945610 |
753 | E>A | No |
ClinGen gnomAD |
|
|
rs1413892973 CA347918497 |
753 | E>D | No |
ClinGen gnomAD |
|
|
rs1443416958 CA347918505 |
754 | D>E | No |
ClinGen gnomAD |
|
|
rs1161306865 CA347918509 |
755 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1807235 rs777661448 |
756 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs758159304 CA1807234 |
756 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1450211671 CA347918527 |
758 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA347918523 rs1343203531 |
758 | P>S | No |
ClinGen gnomAD |
|
|
CA1807236 rs190004512 |
759 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347918540 rs1269891509 |
760 | K>R | No |
ClinGen gnomAD |
|
|
CA1807237 rs770671445 |
762 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1216729695 CA347918560 |
763 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1807239 rs745381673 |
763 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1444423454 CA347918618 |
772 | G>R | No |
ClinGen gnomAD |
|
|
CA52845494 rs545368433 |
773 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1460511369 CA347918633 |
774 | T>M | No |
ClinGen gnomAD |
|
|
CA347918644 rs1381602398 |
776 | E>K | No |
ClinGen gnomAD |
|
|
CA1807244 rs773687320 |
777 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347918664 rs760805317 |
778 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA52845503 rs947540335 |
779 | D>G | No |
ClinGen Ensembl |
|
|
CA347918665 rs1405530495 |
779 | D>N | No |
ClinGen gnomAD |
|
|
rs753912429 CA347918678 |
780 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA347918673 rs1334777509 |
780 | D>H | No |
ClinGen gnomAD |
|
|
rs1334777509 CA347918672 |
780 | D>N | No |
ClinGen gnomAD |
|
|
CA1807248 rs759712021 |
782 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs977506323 CA52845513 |
783 | Q>H | No |
ClinGen Ensembl |
|
|
CA347918707 rs1333511577 |
784 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA347918716 rs1238607737 |
786 | A>S | No |
ClinGen gnomAD |
|
|
rs1368986299 CA347918719 |
786 | A>V | No |
ClinGen TOPMed |
|
|
rs765225259 CA1807249 |
788 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752650443 CA1807250 |
791 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA347918752 rs1460410070 |
792 | G>* | No |
ClinGen gnomAD |
|
|
CA347918755 rs1201060958 |
792 | G>E | No |
ClinGen gnomAD |
|
|
CA52845522 rs866242185 |
794 | E>D | No |
ClinGen Ensembl |
|
|
rs758407981 CA1807251 |
795 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA347918771 rs1437840647 |
795 | D>N | No |
ClinGen gnomAD |
|
|
CA1807252 rs777416409 |
798 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347918791 rs777416409 |
798 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370847857 CA347918795 |
798 | A>V | No |
ClinGen TOPMed |
|
|
CA1807253 rs751435179 |
799 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs375823544 CA1807254 |
799 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1302712279 CA347918818 |
800 | S>L | No |
ClinGen gnomAD |
|
|
rs759877850 CA1807268 |
800 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA347918834 rs1343683877 |
803 | N>S | No |
ClinGen gnomAD |
|
|
rs750288682 CA52845728 |
805 | S>R | No |
ClinGen TOPMed |
|
|
rs765384309 CA1807269 |
806 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752881262 CA1807270 |
808 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1807272 rs372783884 |
809 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1807274 rs757094416 |
811 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA1807276 rs767343379 |
812 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1807275 rs767343379 |
812 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1355304351 CA347918898 |
813 | K>R | No |
ClinGen gnomAD |
|
|
CA1807277 rs755824363 |
814 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs779537824 CA1807278 |
815 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA347918916 rs1577117598 |
816 | I>V | No |
ClinGen Ensembl |
|
|
CA347918926 rs368954596 |
817 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs368954596 CA1807280 |
817 | V>G | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 818 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778367356 CA1807281 |
819 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778367356 CA1807282 |
819 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1807283 rs771391146 |
821 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1807284 rs200928764 |
822 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347918969 rs1163205178 |
824 | E>K | No |
ClinGen gnomAD |
|
|
rs746075133 CA1807285 |
825 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA347918996 rs1299250529 |
827 | M>I | No |
ClinGen gnomAD |
|
|
rs868505912 CA52845777 |
830 | S>F | No |
ClinGen Ensembl |
|
|
rs1333198693 CA347919019 |
831 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1807288 rs763102606 |
832 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA347919030 rs1315369498 |
833 | G>C | No |
ClinGen gnomAD |
|
|
CA1807289 rs371124016 |
834 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347919035 rs1341767262 |
834 | T>P | No |
ClinGen gnomAD |
|
|
rs1341767262 CA347919037 |
834 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 835 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347919041 rs1444940255 |
835 | L>V | No |
ClinGen gnomAD |
|
|
CA52845791 rs773555909 |
836 | I>T | No |
ClinGen Ensembl |
|
|
CA52845803 rs780305338 |
837 | V>D | No |
ClinGen Ensembl |
|
|
rs374179839 CA1807292 |
837 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1807293 rs750288751 |
838 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377621426 CA1807294 |
838 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs890869657 CA52845810 |
839 | Q>E | No |
ClinGen TOPMed |
|
|
CA1807326 rs778988891 |
841 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs951419843 CA347919967 |
841 | Q>L | No |
ClinGen TOPMed |
|
|
CA52847513 rs951419843 |
841 | Q>R | No |
ClinGen TOPMed |
|
|
rs1485204400 CA347919976 |
842 | S>Y | No |
ClinGen gnomAD |
|
|
CA347919978 rs1443702115 |
843 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA347919977 rs1443702115 |
843 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1577188808 CA347919985 |
844 | S>G | No |
ClinGen Ensembl |
|
|
CA347919992 rs1259464695 |
845 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs771949686 CA1807328 |
846 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA347920008 rs1158333653 |
847 | L>P | No |
ClinGen gnomAD |
|
|
rs1181090802 CA347920023 |
849 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1181090802 CA347920022 |
849 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs760647526 CA1807330 |
851 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs879019815 CA347920046 |
852 | S>F | No |
ClinGen gnomAD |
|
|
CA52847523 rs879019815 |
852 | S>Y | No |
ClinGen gnomAD |
|
|
CA347920051 rs1382124523 |
853 | S>C | No |
ClinGen gnomAD |
|
|
CA347920064 rs1450734035 |
855 | S>F | No |
ClinGen gnomAD |
|
|
rs1465397329 CA347920060 |
855 | S>P | No |
ClinGen TOPMed |
|
|
rs759221924 CA1807333 |
856 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs776345157 CA1807332 |
856 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs764800572 CA1807334 |
862 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347920108 rs1267652999 |
862 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 866 | Q>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 866 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 867 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1559291155 CA347920154 |
869 | P>S | No |
ClinGen Ensembl |
|
|
rs373924830 CA1807337 |
871 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs534441332 CA1807339 |
872 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780464308 CA1807340 |
874 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs754162383 CA1807341 |
876 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779027000 CA1807343 |
878 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438466822 CA347920209 |
879 | V>L | No |
ClinGen TOPMed |
|
|
rs370189911 CA1807357 |
882 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 884 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1268702171 CA347920260 |
884 | D>E | No |
ClinGen TOPMed |
|
|
rs763672959 CA1807358 |
884 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA52847761 rs910184648 |
885 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs761179721 CA1807360 |
886 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368665024 CA1807363 |
888 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1807362 rs368665024 |
888 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1807361 rs766813229 |
888 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs765630872 CA1807364 |
889 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA347920284 rs765630872 |
889 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1344195242 CA347920294 |
890 | A>D | No |
ClinGen gnomAD |
|
|
CA52847775 rs532860411 |
891 | I>M | No |
ClinGen 1000Genomes |
|
|
CA1807366 rs758676912 |
891 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777823842 CA1807367 |
892 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA1807370 rs781009612 |
897 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1453733250 CA347920353 |
899 | G>V | No |
ClinGen TOPMed |
|
|
rs375209088 CA1807371 |
900 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1373777398 CA347920359 |
901 | V>M | No |
ClinGen gnomAD |
|
|
CA52847812 rs372225228 |
907 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1577198427 CA347920405 |
908 | N>D | No |
ClinGen Ensembl |
|
|
CA52847815 rs1027621147 |
908 | N>S | No |
ClinGen gnomAD |
|
|
rs1181144744 CA347920412 |
909 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA347920441 rs1204462176 |
913 | S>N | No |
ClinGen TOPMed |
|
|
rs768429723 CA1807375 |
916 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375228116 CA1807376 |
919 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1807377 rs528924487 |
919 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs911750264 CA52847860 |
920 | K>E | No |
ClinGen Ensembl |
|
|
rs965838000 CA52847876 |
924 | R>K | No |
ClinGen TOPMed |
|
|
CA347920576 rs1294709979 |
926 | N>S | No |
ClinGen gnomAD |
|
|
CA347920578 rs1294709979 |
926 | N>T | No |
ClinGen gnomAD |
|
|
CA347920599 rs1450799551 |
928 | E>V | No |
ClinGen TOPMed |
|
|
rs577039991 CA1807379 |
930 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA347920663 rs1282200608 |
934 | L>V | No |
ClinGen gnomAD |
|
|
rs1014270424 CA52849379 |
943 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 952 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1577251601 CA347920984 |
957 | K>E | No |
ClinGen Ensembl |
|
|
rs1577251762 CA347920996 |
958 | V>G | No |
ClinGen Ensembl |
|
|
rs1392712561 CA347920991 |
958 | V>I | No |
ClinGen gnomAD |
|
|
rs1334942278 CA347921002 |
959 | Y>C | No |
ClinGen gnomAD |
|
|
CA347920998 rs1307444342 |
959 | Y>H | No |
ClinGen gnomAD |
|
|
rs1395201513 CA347921021 |
962 | I>T | No |
ClinGen Ensembl |
|
|
rs150787735 CA1807409 |
963 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754790276 CA1807410 |
966 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA347921044 rs1203143199 |
966 | R>L | No |
ClinGen gnomAD |
|
|
rs1254271667 CA347921057 |
968 | Q>* | No |
ClinGen gnomAD |
|
|
rs778819047 CA1807411 |
970 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747745076 CA347921086 |
971 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 975 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1577252409 CA347921131 |
978 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 982 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1807415 rs746540881 |
983 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA347921400 rs1303027935 |
986 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1807433 rs757928649 |
987 | D>G | No |
ClinGen ExAC |
|
|
CA1807434 rs777503720 |
988 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA347921426 rs1170753384 |
990 | R>H | No |
ClinGen gnomAD |
|
|
rs1451540234 CA347921434 |
991 | V>A | No |
ClinGen TOPMed |
|
|
rs756720258 CA1807436 |
998 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1304739083 CA347921494 |
1000 | K>Q | No |
ClinGen gnomAD |
|
|
CA52851774 rs988761440 |
1006 | P>A | No |
ClinGen TOPMed |
|
|
CA347921561 rs1449011325 |
1009 | E>A | No |
ClinGen TOPMed |
|
|
rs749779435 CA1807438 |
1010 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1262506299 CA347921611 |
1016 | T>A | No |
ClinGen TOPMed |
|
|
rs1215273180 CA347921616 |
1017 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs373475997 CA52851792 |
1019 | D>E | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 1021 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1807441 rs376509260 |
1025 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs774523844 CA1807440 |
1025 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA347921684 rs1341409060 |
1027 | K>Q | No |
ClinGen gnomAD |
|
|
rs772465744 CA1807460 |
1031 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs773770276 CA1807461 |
1032 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA347921756 rs1160893012 |
1035 | K>R | No |
ClinGen TOPMed |
|
|
rs1158314222 CA347921768 |
1037 | L>M | No |
ClinGen gnomAD |
|
|
rs144718259 CA1807463 |
1043 | S>R | No |
ClinGen 1000Genomes ExAC |
|
|
rs775466179 CA1807467 |
1060 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1807490 rs769890724 |
1065 | G>* | No |
ClinGen ExAC gnomAD |
|
|
CA1807492 rs762943264 |
1067 | L>F | No |
ClinGen ExAC |
|
|
CA347922171 rs1429283590 |
1068 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 1079 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1079 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1083 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778889965 CA52854451 |
1088 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1184711697 CA347922423 |
1091 | C>R | No |
ClinGen Ensembl |
|
|
rs371990136 CA52854454 |
1091 | C>Y | No |
ClinGen ESP TOPMed |
|
|
rs767341279 CA1807496 |
1092 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs56349102 CA1807497 |
1097 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1807498 rs560875389 |
1100 | D>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347922574 rs1273216893 |
1105 | Y>C | No |
ClinGen TOPMed |
|
|
CA347922591 rs1266630226 |
1107 | I>L | No |
ClinGen gnomAD |
|
|
CA347922782 rs1317901896 |
1113 | I>L | No |
ClinGen gnomAD |
|
| TCGA novel | 1113 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347922800 rs1407863249 |
1114 | Q>H | No |
ClinGen gnomAD |
|
|
rs184817270 CA1807519 |
1116 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764877509 CA1807520 |
1118 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1338472844 CA347922855 |
1119 | P>H | No |
ClinGen gnomAD |
|
|
CA1807522 rs757893124 |
1121 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs575872758 CA1807521 |
1121 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA347922883 rs1265017257 |
1122 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1254834392 CA347922913 |
1124 | I>T | No |
ClinGen TOPMed |
|
|
rs1577480788 CA347922908 |
1124 | I>V | No |
ClinGen Ensembl |
|
|
rs376643349 CA1807524 |
1127 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781353896 CA52854904 |
1131 | M>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1133 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1577481416 CA347923035 |
1135 | V>A | No |
ClinGen Ensembl |
|
|
CA347923030 rs1471865541 |
1135 | V>L | No |
ClinGen gnomAD |
|
|
rs1452605418 CA347923088 |
1140 | E>* | No |
ClinGen gnomAD |
|
|
rs756300078 CA1807525 |
1144 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA347923187 rs1416784118 |
1149 | R>G | No |
ClinGen TOPMed |
|
|
rs988610790 CA52854926 |
1150 | I>V | No |
ClinGen Ensembl |
|
|
rs368749725 CA1807527 |
1156 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 1160 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1247832319 CA347923456 |
1169 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1488411925 CA347923469 |
1170 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA1807552 rs770607337 |
1171 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1228771899 CA347923486 |
1172 | Q>K | No |
ClinGen TOPMed |
|
|
CA347923496 rs1340826022 |
1173 | T>A | No |
ClinGen TOPMed |
|
|
rs1559353201 CA347923505 |
1174 | M>V | No |
ClinGen Ensembl |
|
|
CA347923589 rs1188785212 |
1184 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA347923598 rs1236313614 |
1185 | S>C | No |
ClinGen TOPMed |
|
|
rs1389376060 CA347923594 |
1185 | S>T | No |
ClinGen gnomAD |
|
|
CA347923619 rs1418053197 |
1188 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA347923630 rs1427545176 |
1190 | H>R | No |
ClinGen gnomAD |
|
|
rs1166592141 CA347923637 |
1191 | L>W | No |
ClinGen gnomAD |
|
|
CA1807555 rs769574320 |
1203 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1381812188 CA347923741 |
1205 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 1207 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762573853 CA1807557 |
1209 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1211 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1443500806 CA347923815 |
1214 | F>V | No |
ClinGen TOPMed |
|
|
rs748999364 CA1807580 |
1218 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1414117423 CA347923846 |
1219 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1176265485 CA347923852 |
1220 | S>P | No |
ClinGen gnomAD |
|
|
rs953374438 CA52857435 |
1221 | G>V | No |
ClinGen TOPMed |
|
|
rs1158525545 CA347923869 |
1223 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 1225 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347923928 rs1416433397 |
1230 | T>I | No |
ClinGen gnomAD |
|
|
rs1335074100 CA347923948 |
1233 | R>S | No |
ClinGen gnomAD |
|
|
rs1446318392 CA347923969 |
1237 | L>Q | No |
ClinGen gnomAD |
1 associated diseases with O95819
Without disease ID
No regional properties for O95819
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for O95819 | |||
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 | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| creatine kinase activity | Catalysis of the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
| 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. |
14 GO annotations of biological process
| Name | Definition |
|---|---|
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| MAPK cascade | An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. |
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
| negative regulation of cell-matrix adhesion | Any process that stops, prevents, or reduces the rate or extent of cell adhesion to the extracellular matrix. |
| neuron projection morphogenesis | The process in which the anatomical structures of a neuron projection are generated and organized. A neuron projection is any process extending from a neural cell, such as axons or dendrites. |
| positive regulation of ARF protein signal transduction | Any process that activates or increases the frequency, rate or extent of ARF protein signal transduction. |
| positive regulation of cell migration | Any process that activates or increases the frequency, rate or extent of cell migration. |
| positive regulation of focal adhesion assembly | Any process that activates or increases the frequency, rate or extent of focal adhesion assembly, the establishment and maturation of focal adhesions. |
| positive regulation of focal adhesion disassembly | Any process that activates or increases the frequency, rate or extent of disaggregation of a focal adhesion into its constituent components. |
| positive regulation of GTPase activity | Any process that activates or increases the activity of a GTPase. |
| positive regulation of keratinocyte migration | Any process that activates or increases the frequency, rate or extent of keratinocyte migration. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of JNK cascade | Any process that modulates the frequency, rate or extent of signal transduction mediated by the JNK cascade. |
| regulation of MAPK cascade | Any process that modulates the frequency, rate or extent of signal transduction mediated by the MAP kinase (MAPK) cascade. |
14 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q7Z2Y5 | NRK | Nik-related protein kinase | Homo sapiens (Human) | PR |
| Q13043 | STK4 | Serine/threonine-protein kinase 4 | Homo sapiens (Human) | EV |
| Q13188 | STK3 | Serine/threonine-protein kinase 3 | Homo sapiens (Human) | SS |
| Q9NQU5 | PAK6 | Serine/threonine-protein kinase PAK 6 | Homo sapiens (Human) | EV |
| Q9P286 | PAK5 | Serine/threonine-protein kinase PAK 5 | Homo sapiens (Human) | EV |
| O96013 | PAK4 | Serine/threonine-protein kinase PAK 4 | Homo sapiens (Human) | EV |
| Q13177 | PAK2 | Serine/threonine-protein kinase PAK 2 | Homo sapiens (Human) | EV |
| O75914 | PAK3 | Serine/threonine-protein kinase PAK 3 | Homo sapiens (Human) | SS |
| Q13153 | PAK1 | Serine/threonine-protein kinase PAK 1 | Homo sapiens (Human) | EV |
| Q9JM52 | Mink1 | Misshapen-like kinase 1 | Mus musculus (Mouse) | PR |
| P83510 | Tnik | Traf2 and NCK-interacting protein kinase | Mus musculus (Mouse) | PR |
| Q9R0G8 | Nrk | Nik-related protein kinase | Mus musculus (Mouse) | PR |
| P97820 | Map4k4 | Mitogen-activated protein kinase kinase kinase kinase 4 | Mus musculus (Mouse) | PR |
| O23304 | BLUS1 | Serine/threonine-protein kinase BLUS1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MANDSPAKSL | VDIDLSSLRD | PAGIFELVEV | VGNGTYGQVY | KGRHVKTGQL | AAIKVMDVTE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DEEEEIKLEI | NMLKKYSHHR | NIATYYGAFI | KKSPPGHDDQ | LWLVMEFCGA | GSITDLVKNT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KGNTLKEDWI | AYISREILRG | LAHLHIHHVI | HRDIKGQNVL | LTENAEVKLV | DFGVSAQLDR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TVGRRNTFIG | TPYWMAPEVI | ACDENPDATY | DYRSDLWSCG | ITAIEMAEGA | PPLCDMHPMR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ALFLIPRNPP | PRLKSKKWSK | KFFSFIEGCL | VKNYMQRPST | EQLLKHPFIR | DQPNERQVRI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QLKDHIDRTR | KKRGEKDETE | YEYSGSEEEE | EEVPEQEGEP | SSIVNVPGES | TLRRDFLRLQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QENKERSEAL | RRQQLLQEQQ | LREQEEYKRQ | LLAERQKRIE | QQKEQRRRLE | EQQRREREAR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RQQEREQRRR | EQEEKRRLEE | LERRRKEEEE | RRRAEEEKRR | VEREQEYIRR | QLEEEQRHLE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VLQQQLLQEQ | AMLLECRWRE | MEEHRQAERL | QRQLQQEQAY | LLSLQHDHRR | PHPQHSQQPP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PPQQERSKPS | FHAPEPKAHY | EPADRAREVE | DRFRKTNHSS | PEAQSKQTGR | VLEPPVPSRS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ESFSNGNSES | VHPALQRPAE | PQVPVRTTSR | SPVLSRRDSP | LQGSGQQNSQ | AGQRNSTSIE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| PRLLWERVEK | LVPRPGSGSS | SGSSNSGSQP | GSHPGSQSGS | GERFRVRSSS | KSEGSPSQRL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ENAVKKPEDK | KEVFRPLKPA | DLTALAKELR | AVEDVRPPHK | VTDYSSSSEE | SGTTDEEDDD |
| 790 | 800 | 810 | 820 | 830 | 840 |
| VEQEGADEST | SGPEDTRAAS | SLNLSNGETE | SVKTMIVHDD | VESEPAMTPS | KEGTLIVRQT |
| 850 | 860 | 870 | 880 | 890 | 900 |
| QSASSTLQKH | KSSSSFTPFI | DPRLLQISPS | SGTTVTSVVG | FSCDGMRPEA | IRQDPTRKGS |
| 910 | 920 | 930 | 940 | 950 | 960 |
| VVNVNPTNTR | PQSDTPEIRK | YKKRFNSEIL | CAALWGVNLL | VGTESGLMLL | DRSGQGKVYP |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| LINRRRFQQM | DVLEGLNVLV | TISGKKDKLR | VYYLSWLRNK | ILHNDPEVEK | KQGWTTVGDL |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| EGCVHYKVVK | YERIKFLVIA | LKSSVEVYAW | APKPYHKFMA | FKSFGELVHK | PLLVDLTVEE |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| GQRLKVIYGS | CAGFHAVDVD | SGSVYDIYLP | THIQCSIKPH | AIIILPNTDG | MELLVCYEDE |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| GVYVNTYGRI | TKDVVLQWGE | MPTSVAYIRS | NQTMGWGEKA | IEIRSVETGH | LDGVFMHKRA |
| 1210 | 1220 | 1230 | |||
| QRLKFLCERN | DKVFFASVRS | GGSSQVYFMT | LGRTSLLSW |