P57059
PR
Gene name |
SIK1 (SIK, SNF1LK) |
Protein name |
Serine/threonine-protein kinase SIK1 |
Names |
Salt-inducible kinase 1, SIK-1, Serine/threonine-protein kinase SNF1-like kinase 1, Serine/threonine-protein kinase SNF1LK |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:150094 |
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
166-188 (Activation loop from InterPro)
Target domain |
27-278 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
1 structures for P57059
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P57059-F1 | Predicted | AlphaFoldDB |
622 variants for P57059
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002275130 RCV002313535 CA321330074 RCV000969586 rs376640139 |
2 | V>I | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA410611207 rs1569017796 RCV002318856 |
4 | M>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs758084408 RCV001060322 CA321330057 |
13 | G>S | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs3746951 RCV002312252 RCV001522240 CA321330050 VAR_041087 RCV000713292 |
15 | G>S | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA410611130 rs1317188418 RCV001236492 |
16 | Q>E | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA321330046 RCV001067654 rs761039038 |
17 | G>D | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001056830 rs2081066253 |
26 | F>V | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001229257 CA321330035 rs200616322 |
30 | E>Q | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001048407 rs147781218 CA321330033 |
31 | R>G | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001349313 rs1359524179 |
38 | F>L | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2081066065 RCV001035511 |
40 | V>M | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1400179035 CA410610942 RCV001221771 |
45 | R>Q | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2081065975 RCV001326265 |
47 | R>L | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2081064737 RCV001347978 |
69 | E>missing | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1041137216 CA321329842 RCV001318402 |
75 | V>I | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA410610707 RCV000811716 rs1601511650 |
78 | M>L | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569017480 CA410610704 RCV000686108 |
78 | M>T | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1162511475 CA410610536 RCV002436600 RCV001050656 |
101 | I>V | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA321328431 RCV001210917 rs374251012 RCV002562368 |
111 | M>V | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2081057328 RCV001313626 |
113 | D>E | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000653191 CA321328192 rs745541081 |
122 | S>N | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001342355 rs2081057190 |
123 | E>V | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2081057135 RCV001034390 |
126 | A>V | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs111703795 RCV000811438 CA321328181 |
127 | R>Q | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555841977 RCV000656064 |
127 | R>W | Childhood epilepsy with centrotemporal spikes [ClinVar] | Yes |
ClinVar dbSNP |
|
CA321328182 RCV001033982 rs748660297 |
127 | R>W | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002325510 RCV000795133 CA321328147 rs780569607 |
135 | S>L | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs141382693 RCV000800063 CA321328134 |
137 | V>M | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001034027 rs45491503 |
142 | D>H | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_041088 rs45491503 CA321328131 RCV001072040 |
142 | D>N | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs762885522 CA321328112 RCV000807486 |
146 | V>I | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001065515 CA321327815 rs748074366 |
183 | W>C | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001059468 rs754959423 CA321327810 RCV002554420 COSM1682023 |
188 | P>R | Developmental and epileptic encephalopathy, 30 haematopoietic_and_lymphoid_tissue Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA321327760 rs367965361 RCV001060113 |
194 | V>I | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA410609826 RCV000801772 rs1601509903 |
200 | Y>C | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs142728625 RCV001300989 CA321327456 |
216 | V>I | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs768610335 RCV001202187 |
225 | D>H | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001234531 rs1163763920 CA410609623 |
230 | P>T | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA410609586 RCV000653183 rs1555891321 |
237 | L>V | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001034247 CA321326982 rs757740944 |
250 | D>E | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1601509582 RCV000794848 CA410609500 |
250 | D>N | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM3939510 RCV001326566 rs778169446 CA321326974 |
257 | R>C | Developmental and epileptic encephalopathy, 30 oesophagus [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs758756558 CA321326968 RCV001070315 |
257 | R>H | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2081052018 RCV001320262 |
260 | V>A | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA321326945 rs112011493 RCV000542041 RCV002311890 |
264 | A>T | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2081051869 RCV001342871 |
267 | I>T | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001039683 rs767335982 CA321326931 |
269 | I>V | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA321326923 RCV000793213 rs571627997 |
270 | A>T | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs768230594 RCV001295943 |
273 | R>G | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA321326906 RCV001205910 rs775013998 |
276 | R>W | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs528484611 RCV001233855 CA321326892 |
283 | C>W | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP gnomAD |
|
RCV001034369 CA321326888 rs567695572 |
285 | P>L | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA199547 rs786205159 VAR_073701 RCV000170344 |
287 | P>T | Developmental and epileptic encephalopathy, 30 DEE30; no change in subcellular location [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002317898 RCV000653200 rs374476526 |
287 | P>missing | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000653182 rs376891838 CA321326840 |
288 | A>S | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
rs376891838 RCV001222196 COSM1414322 CA410609254 |
288 | A>T | Developmental and epileptic encephalopathy, 30 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP TOPMed dbSNP |
|
RCV002372671 RCV000968931 CA321326798 rs201889040 |
291 | A>T | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA321326787 rs150241738 RCV002316173 RCV001476836 |
292 | F>Y | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001287961 RCV002311989 RCV000653181 rs141114345 CA321326767 |
294 | A>V | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA321326752 RCV002448792 RCV000538396 rs769181075 |
303 | D>N | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA321326745 rs144214218 RCV001061431 |
305 | D>N | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1363272609 CA410609123 RCV001051821 |
308 | A>V | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002292632 rs1352926525 CA410609091 RCV001345399 |
313 | Q>R | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001298332 CA321326721 rs752551158 |
317 | V>M | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2081050811 RCV001238855 |
318 | D>A | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001308103 CA321326708 rs766038492 |
319 | R>Q | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA321326713 RCV001060866 rs759268634 |
319 | R>W | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA321326547 rs778543025 RCV000693649 |
344 | R>Q | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000170345 CA199549 rs786205160 |
347 | E>* | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000653184 CA321326539 rs754872537 |
348 | Y>C | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs753524703 RCV001862078 CA321326528 RCV002318129 |
349 | R>Q | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs753285222 RCV001034421 CA321326504 |
354 | A>T | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001266053 rs765513472 RCV002537683 CA321326502 |
355 | R>C | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002315978 rs759838082 CA321326497 RCV000653188 RCV002060776 |
355 | R>H | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA321326494 RCV000653180 rs771103431 |
357 | G>R | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002316583 CA321326489 rs145582574 RCV000553595 COSM1031155 |
358 | P>A | Developmental and epileptic encephalopathy, 30 endometrium Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002549821 rs1006861899 CA321326484 RCV000992982 |
362 | P>L | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
COSM1414320 RCV001033973 CA321326474 RCV002552047 RCV001287960 rs528905001 |
363 | R>Q | Developmental and epileptic encephalopathy, 30 large_intestine Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs755778593 CA321326476 RCV001326076 |
363 | R>W | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs780535115 RCV000686120 RCV002458202 CA321326471 |
365 | R>Q | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001215464 rs1296194659 CA410608756 |
365 | R>W | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002454174 rs146018004 CA321326458 RCV000945893 |
367 | S>L | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001044185 rs1396148473 CA410608730 RCV002552546 |
369 | L>F | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA410608665 rs1374242563 RCV000542044 |
377 | E>K | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001315309 CA410608653 rs1435775681 |
378 | G>V | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2081047896 RCV001318304 |
379 | L>I | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555891146 RCV001224479 |
380 | S>C | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA410608641 RCV000554654 rs1555891146 |
380 | S>Y | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA321326176 RCV001034469 rs770570987 |
382 | D>N | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs746691059 RCV001226028 CA321326172 |
383 | P>A | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001233643 rs2081047778 |
384 | F>L | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA321326166 RCV002313469 RCV000792606 rs545863305 |
385 | R>Q | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA321326136 rs757476600 RCV002551434 RCV001039028 COSM1726983 |
391 | P>L | liver Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA321326131 RCV001218183 COSM1414319 rs375024211 |
393 | P>L | Developmental and epileptic encephalopathy, 30 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000814099 RCV002345858 rs746671842 CA321326114 RCV001532456 |
400 | V>F | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs746671842 CA321326117 RCV001229749 |
400 | V>I | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1188686119 CA410608513 RCV001219497 |
402 | Q>P | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1601508504 CA410608504 RCV000801484 |
403 | A>G | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000316940 RCV001345589 rs150822645 CA10605176 |
404 | E>K | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000435369 RCV000990353 rs34987632 CA16603280 RCV002311443 |
405 | M>I | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001055367 CA410608482 rs1333644680 |
406 | D>E | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001254960 RCV001508001 CA321326092 RCV000653190 rs746408860 |
407 | C>R | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_073702 | 411 | S>C | DEE30; no change in subcellular location [UniProt] | Yes | UniProt |
|
rs2081047181 RCV001304377 |
411 | S>G | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2081047079 RCV001322619 |
415 | W>R | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000802030 RCV000512961 rs181611369 CA321325947 |
420 | P>L | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA321325951 rs181611369 RCV000543156 RCV002413635 |
420 | P>Q | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2081046255 RCV001303148 |
428 | V>G | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000797209 rs143953116 CA321325921 |
430 | R>Q | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000559968 RCV002315032 CA321325923 VAR_033910 rs34164089 RCV001084738 |
430 | R>W | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs778947480 COSM1414318 CA321325918 RCV001342490 |
432 | R>Q | Developmental and epileptic encephalopathy, 30 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV001052270 CA321325919 rs748371566 RCV002379555 RCV001532455 |
432 | R>W | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs111780079 CA321325913 RCV000954028 RCV002316174 |
434 | V>L | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001034092 RCV002382262 CA321325915 rs111780079 |
434 | V>M | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs151326084 CA321325909 RCV000878479 |
437 | S>G | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA321325897 RCV001056761 rs757099881 |
438 | S>G | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1451348781 RCV002386434 RCV000802912 CA410608177 |
452 | P>L | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs377535420 CA321325880 RCV000692954 |
457 | E>A | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001213103 rs2081045420 |
458 | Q>R | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2081045356 RCV001247705 |
459 | D>A* | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000653186 CA321325876 rs761262141 |
460 | T>M | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001064332 rs1022873540 CA321325870 |
463 | S>C | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1569015116 RCV000701386 CA410608094 |
465 | P>S | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA321325854 RCV002317577 RCV001043301 rs1012778505 |
468 | T>M | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA321325841 RCV001038968 rs998623002 |
472 | H>L | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000653185 CA410608044 rs1555891084 |
473 | T>N | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1163668338 CA410608033 RCV001057184 |
475 | A>G | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1163668338 RCV001034175 |
475 | A>V | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002275303 RCV001196198 rs2081044918 |
477 | V>G | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA410608006 rs1189551206 RCV001061304 |
480 | R>H | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs369897512 CA321325804 RCV000696137 |
486 | A>V | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001034018 rs2081044642 |
488 | C>G | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001034368 CA321325550 rs769962713 |
488 | C>Y | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000538008 CA321325530 RCV002316586 rs140222760 |
491 | V>L | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001034434 rs2081043276 |
492 | S>F | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA321325512 rs539292224 RCV001049620 |
496 | T>M | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs35519605 CA321325508 RCV002395477 RCV000526239 |
497 | A>S | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA321325501 RCV002393559 rs763399015 RCV001227940 |
502 | G>E | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001234176 rs2081042986 |
506 | D>* | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2081042854 RCV001237453 |
512 | S>F | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA321325470 RCV001232312 rs200402559 |
513 | A>E | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs200402559 CA321325472 RCV001207846 |
513 | A>G | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000691190 COSM1682022 rs200402559 CA321325468 |
513 | A>V | kidney Developmental and epileptic encephalopathy, 30 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001320826 CA410607768 RCV002543810 rs142171557 |
518 | A>G | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001171964 rs367547841 CA321325459 RCV002391113 RCV001039763 |
518 | A>P | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA321325463 RCV001054775 rs367547841 |
518 | A>T | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1566048 RCV002315979 RCV000653189 rs142171557 CA321325457 |
518 | A>V | Developmental and epileptic encephalopathy, 30 large_intestine Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA410607739 RCV000816343 rs1389573601 |
523 | T>I | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA321325444 rs765573579 RCV000653187 |
524 | P>L | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2081042565 RCV001315562 |
524 | P>L | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs761030360 RCV001340247 |
527 | Q>missing | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs761551726 RCV001034067 |
532 | A>S | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA321325423 RCV001061501 rs761551726 |
532 | A>T | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs373576665 CA321325411 RCV000551430 |
535 | P>L | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs200481902 RCV001219908 RCV002402658 CA321325401 |
540 | S>L | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA321325389 RCV000817324 rs144694596 |
543 | L>P | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA321325382 rs756332675 RCV001348281 |
545 | S>L | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2081041823 RCV001327319 |
556 | G>E | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs746480237 RCV001326055 CA321325330 |
564 | L>P | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2081041634 RCV001295041 |
565 | P>S | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs751643088 CA321325269 RCV001034041 |
580 | T>I | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001248297 RCV002411913 rs754963793 CA321324988 |
594 | T>M | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA321324975 rs372646769 RCV001532454 RCV001339659 |
595 | R>W | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001868150 COSM231438 RCV000624457 CA321324958 rs773946657 |
610 | R>C | Developmental and epileptic encephalopathy, 30 skin Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2081038632 RCV001204891 |
611 | Q>H | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001043950 rs1243997625 CA410607204 |
611 | Q>R | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1322191001 RCV001245082 |
612 | V>M | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786205161 CA199551 RCV000170346 |
614 | Q>* | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1474186338 RCV000706153 |
615 | A>missing | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs777106028 RCV000700529 RCV002406620 CA321324939 |
615 | A>T | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002312250 VAR_021255 RCV000713289 rs430554 CA321324936 RCV000990352 |
615 | A>V | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP |
|
CA321324931 RCV001207379 rs779097101 |
617 | A>T | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002562456 RCV001218516 rs372399294 CA321324923 |
619 | R>Q | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs544350928 RCV000797255 CA321324899 |
624 | G>S | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs2081038153 RCV001305968 |
626 | S>I | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001247179 rs2081038102 |
629 | H>Y | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001049016 CA321324879 rs202116743 |
630 | A>T | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA199553 rs786205162 RCV000170347 |
633 | Q>* | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA321324847 rs779904079 RCV002546511 RCV001331845 |
635 | P>L | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA321324851 RCV002412018 rs779904079 RCV001316860 |
635 | P>R | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA199555 rs786205163 RCV000170348 VAR_073703 |
636 | G>S | Developmental and epileptic encephalopathy, 30 DEE30; no change in subcellular location [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA321324818 RCV000816229 rs780476959 |
639 | G>S | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000822965 rs763499196 CA321324811 |
640 | G>S | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA321324805 rs368632078 RCV001203465 |
641 | A>S | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA321324795 RCV001221397 rs201009426 RCV001311574 |
643 | G>S | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA321324787 RCV001203202 rs761924245 |
644 | S>R | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs34614061 CA321324786 RCV000653192 |
645 | R>Q | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1400394036 RCV001337673 |
647 | G>S | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2081037328 RCV001324270 |
657 | Q>E | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs367955174 RCV001048558 CA321324564 |
663 | L>F | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA410606879 RCV001296179 rs1285700273 |
663 | L>S | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs553014547 RCV001042815 CA321324553 |
667 | P>L | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs892118949 CA321324556 RCV001295243 |
667 | P>T | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs753288564 RCV001034283 RCV002317521 CA321324540 |
669 | A>T | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001209832 rs2081035616 |
670 | A>missing | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001202826 CA321324539 rs768025261 |
671 | P>L | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA410606830 RCV002316024 rs1403535677 |
671 | P>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000553286 CA321324536 rs751934560 |
672 | G>S | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001033991 CA321324524 RCV002416318 rs775749558 RCV002067716 |
678 | Q>H | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002318012 CA321324527 rs763160252 RCV001369004 |
678 | Q>P | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1362078144 RCV001034204 CA410606760 |
682 | A>V | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002318178 RCV001057377 CA321324511 rs776595772 |
683 | P>L | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001219898 rs929370860 CA321324505 |
684 | F>L | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen TOPMed ClinVar dbSNP |
|
RCV002318327 RCV001034152 rs752544370 CA321324503 |
687 | A>T | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000529277 CA321324493 RCV002315034 rs200810453 |
691 | G>D | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1569013982 CA410606704 RCV000689060 |
692 | P>A | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16603199 RCV000546024 RCV002314121 rs56386767 COSM4134967 VAR_041091 RCV000424372 |
696 | P>L | thyroid Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002313521 RCV001862039 CA321324486 rs778637849 |
696 | P>S | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs757755073 RCV000558419 CA321324477 |
698 | P>L | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA410606647 RCV002314526 rs1204878132 |
702 | L>I | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000693990 CA410606636 rs1308366748 |
703 | T>M | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA410606630 RCV001323392 rs1217587469 |
704 | S>L | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001220600 CA321324450 rs988303758 |
707 | P>L | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA410606594 RCV000803098 rs1601506378 |
711 | P>R | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs772137462 RCV001218048 CA321324401 |
718 | A>V | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs547049916 CA321324392 RCV000960770 |
720 | P>L | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1049188125 RCV001051514 CA321324384 |
721 | V>L | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001300081 rs2081034398 |
722 | A>D | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA321324365 RCV002311887 VAR_041092 RCV000559345 rs35596465 |
725 | A>V | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2081034279 RCV001304220 |
727 | L>F | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA410606480 rs1555890879 RCV001003369 RCV001367566 |
731 | H>Y | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002316588 rs201955244 RCV000535373 CA321324346 |
735 | G>D | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs544711047 CA321324332 RCV001039542 RCV002318006 |
737 | G>S | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs760602207 RCV001055769 CA321324323 |
740 | A>T | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001034029 CA410606417 rs1227514074 |
741 | L>R | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002318206 RCV002534980 rs750558686 CA321324320 |
742 | P>L | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA321324294 rs200534160 RCV000913745 |
743 | A>T | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000548146 rs768404256 RCV002526726 CA321324287 |
748 | R>C | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA321324276 RCV000560539 rs375516507 RCV002311888 |
748 | R>H | Developmental and epileptic encephalopathy, 30 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1601506211 CA915952648 RCV000805726 |
753 | A>S | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001061491 rs2081033603 |
758 | P>S | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000689045 CA321324244 rs755238635 |
765 | D>Y | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA321324242 RCV001209770 COSM1031147 rs754231467 |
769 | E>K | Developmental and epileptic encephalopathy, 30 endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV001058555 RCV000997833 rs756377602 CA321324230 |
774 | C>G | Developmental and epileptic encephalopathy, 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA410611220 rs376640139 |
2 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749382226 CA321330071 |
2 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs780194090 CA321330068 |
3 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410611201 rs1311632934 |
5 | S>T | No |
ClinGen gnomAD |
|
|
CA410611186 rs1460272691 |
7 | F>L | No |
ClinGen gnomAD |
|
|
CA321330065 rs745845800 |
9 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA321330064 rs781115340 |
9 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1282402694 COSM1190369 CA410611165 |
10 | D>Y | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA410611155 rs1354502264 |
11 | P>R | No |
ClinGen gnomAD |
|
|
rs1313344457 CA410611152 |
12 | A>P | No |
ClinGen gnomAD |
|
|
rs752082877 CA321330054 |
14 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1284603970 CA410611139 |
14 | Q>P | No |
ClinGen gnomAD |
|
|
CA16621919 rs3746951 |
15 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA410611129 rs1317188418 |
16 | Q>* | No |
ClinGen gnomAD |
|
|
CA321330043 rs773757163 |
18 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA321330041 rs762230219 |
21 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1309584011 CA410611090 |
22 | L>I | No |
ClinGen gnomAD |
|
|
rs1473972700 CA410611086 |
22 | L>P | No |
ClinGen gnomAD |
|
|
rs1193139106 CA410611037 |
29 | I>M | No |
ClinGen gnomAD |
|
|
rs775388788 CA321330031 |
34 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs769935667 CA321330029 |
36 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA321330026 rs745765710 |
37 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1260875144 CA410610865 |
55 | I>L | No |
ClinGen gnomAD |
|
|
CA410610842 rs1232009536 |
58 | I>T | No |
ClinGen gnomAD |
|
|
rs776866938 CA321329854 |
62 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA321329855 rs776866938 |
62 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1302812968 CA410610806 |
64 | D>N | No |
ClinGen gnomAD |
|
|
rs770927120 CA321329852 |
67 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs144182369 CA321329847 |
68 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410610769 rs1331253194 |
69 | E>* | No |
ClinGen gnomAD |
|
|
CA321329843 rs747722905 |
70 | K>E | No |
ClinGen ExAC |
|
|
rs1348505150 CA410610739 |
73 | R>C | No |
ClinGen gnomAD |
|
|
rs1402833638 CA410610731 |
74 | E>G | No |
ClinGen gnomAD |
|
|
rs1601511645 CA410610701 COSM4004813 |
78 | M>I | urinary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA410610695 rs1569017474 |
79 | K>M | No |
ClinGen Ensembl |
|
|
CA321329841 rs942701562 |
80 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs754432366 CA321329838 |
82 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs779539926 CA321329831 |
85 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA321329824 rs771304957 |
87 | I>T | No |
ClinGen gnomAD |
|
|
rs1179106563 CA410610647 |
87 | I>V | No |
ClinGen gnomAD |
|
|
rs757717088 CA321329822 |
88 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs764340887 CA321329818 |
90 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs746467352 CA321328462 |
92 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA321328460 rs746467352 |
92 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA410610591 rs1421574091 |
93 | M>I | No |
ClinGen gnomAD |
|
|
CA321328447 rs550247785 |
97 | D>G | No |
ClinGen 1000Genomes |
|
|
CA321328449 rs752060977 |
97 | D>N | No |
ClinGen ExAC |
|
|
CA410610530 rs1369929203 |
102 | V>I | No |
ClinGen gnomAD |
|
|
CA410610477 rs1477314075 |
109 | G>V | No |
ClinGen gnomAD |
|
|
rs1306987559 CA410610402 |
118 | N>D | No |
ClinGen gnomAD |
|
|
CA410610378 rs1400687781 |
121 | L>P | No |
ClinGen gnomAD |
|
|
rs776158971 CA410610354 |
124 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA410610353 rs1401018030 |
125 | E>K | No |
ClinGen gnomAD |
|
|
CA321328180 rs111703795 |
127 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370702184 CA321328179 |
129 | K>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1263284998 CA410610296 |
133 | I>V | No |
ClinGen gnomAD |
|
|
rs141382693 CA321328133 |
137 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs966352404 CA321328129 |
142 | D>G | No |
ClinGen TOPMed |
|
|
rs765043466 CA321328107 |
148 | R>W | No |
ClinGen ExAC gnomAD |
|
|
COSM2151050 CA321328094 rs770471221 |
154 | N>K | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1488658161 CA410610018 |
172 | N>D | No |
ClinGen gnomAD |
|
|
rs1243837400 CA410609999 |
174 | Y>C | No |
ClinGen gnomAD |
|
|
CA410609998 rs1243837400 |
174 | Y>F | No |
ClinGen gnomAD |
|
|
CA321327813 rs201496736 |
187 | P>S | No |
ClinGen 1000Genomes ExAC |
|
|
CA410609905 rs754959423 |
188 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA321327797 rs867411618 |
190 | A>V | No |
ClinGen Ensembl |
|
|
rs762692839 CA321327793 |
191 | A>T | No |
ClinGen Ensembl |
|
|
CA321327781 rs755778620 |
192 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA410609881 rs1327018617 |
193 | E>K | No |
ClinGen gnomAD |
|
|
rs1226413705 CA410609855 |
196 | E>V | No |
ClinGen gnomAD |
|
|
rs1170227622 CA410609777 |
207 | I>T | No |
ClinGen gnomAD |
|
|
CA410609768 rs1478219677 |
208 | W>* | No |
ClinGen gnomAD |
|
|
CA410609771 rs1344530130 |
208 | W>* | No |
ClinGen gnomAD |
|
| VAR_041089 | 211 | G>S | a glioblastoma multiforme sample; somatic mutation [UniProt] | No | UniProt |
|
rs766815685 CA321327492 |
212 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs142728625 CA410609709 |
216 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1398162350 CA410609677 |
221 | S>F | No |
ClinGen gnomAD |
|
|
CA321327449 rs868079846 |
223 | P>S | No |
ClinGen gnomAD |
|
|
rs1366472877 CA410609653 |
225 | D>A | No |
ClinGen gnomAD |
|
|
rs768610335 CA321327436 |
225 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA321327434 COSM4137265 rs775722587 |
230 | P>L | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA321327435 rs775722587 |
230 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs745825829 CA321327432 |
231 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA321327428 rs770894429 |
231 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs770894429 CA321327415 |
231 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA321327377 rs758004019 |
234 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA410609596 rs1264082767 |
235 | R>W | No |
ClinGen gnomAD |
|
|
CA321327366 rs778427915 |
236 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA410609592 rs778427915 |
236 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs929465231 CA321327363 |
237 | L>P | No |
ClinGen TOPMed |
|
|
CA410609566 rs756562424 |
240 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA321327352 rs756562424 |
240 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA321327348 rs750974374 |
241 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1383889091 CA410609555 |
242 | R>C | No |
ClinGen gnomAD |
|
|
CA410609554 rs1388430871 |
242 | R>H | No |
ClinGen gnomAD |
|
|
rs762301106 CA321327342 |
244 | P>L | No |
ClinGen ExAC |
|
|
rs1168078855 CA410609523 |
247 | M>V | No |
ClinGen gnomAD |
|
|
CA410609506 rs1477238204 |
249 | Q>E | No |
ClinGen gnomAD |
|
|
rs919364849 CA321327335 |
249 | Q>R | No |
ClinGen TOPMed |
|
|
rs2081052107 RCV001091468 |
251 | C>* | No |
ClinVar dbSNP |
|
|
rs1469947164 CA410609447 |
256 | R>C | No |
ClinGen gnomAD |
|
|
rs372457297 CA321326977 |
256 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA410609398 rs1408671859 |
264 | A>D | No |
ClinGen gnomAD |
|
|
rs760635907 COSM1535001 CA321326935 |
266 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1339466208 CA410609371 |
268 | T>I | No |
ClinGen gnomAD |
|
|
CA410609373 rs1339466208 |
268 | T>N | No |
ClinGen gnomAD |
|
|
CA410609360 rs1601509284 |
270 | A>V | No |
ClinGen Ensembl |
|
|
CA410609355 rs1296874185 |
271 | Q>R | No |
ClinGen gnomAD |
|
|
CA321326907 rs377644840 |
273 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA321326910 rs768230594 |
273 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs200701107 CA321326904 |
276 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1188750414 CA410609312 |
278 | M>V | No |
ClinGen gnomAD |
|
|
CA321326902 rs778203309 |
279 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA410609303 rs373261910 |
279 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA321326898 rs373261910 |
279 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA321326901 rs778203309 |
279 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs748461681 CA321326895 |
280 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA321326891 rs755206273 |
284 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA321326858 rs922570261 |
286 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs922570261 CA410609261 |
286 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA410609255 rs1430685368 |
287 | P>L | No |
ClinGen gnomAD |
|
|
CA321326835 rs866970880 |
288 | A>D | No |
ClinGen Ensembl |
|
|
CA410609249 rs1403887624 |
289 | C>R | No |
ClinGen gnomAD |
|
|
CA321326812 rs761743234 |
289 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA321326793 rs201889040 |
291 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA321326790 rs201889040 |
291 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776214001 CA321326772 |
294 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs373680629 CA321326765 |
296 | S>C | No |
ClinGen Ensembl |
|
|
CA321326749 rs533032057 |
303 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA321326747 rs373962243 |
304 | Y>H | No |
ClinGen ESP gnomAD |
|
|
CA321326742 rs144214218 |
305 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1326870671 CA410609102 |
312 | M>V | No |
ClinGen gnomAD |
|
|
CA321326731 rs200357670 |
313 | Q>H | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1463237927 CA410609095 |
313 | Q>K | No |
ClinGen gnomAD |
|
|
CA321326728 rs763874876 |
315 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA410609069 rs1253428224 |
317 | V>A | No |
ClinGen gnomAD |
|
|
CA321326712 rs766038492 |
319 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA321326703 rs893925871 |
323 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA321326575 rs78821226 |
327 | Q>K | No |
ClinGen Ensembl |
|
|
rs1601508950 CA410608983 |
329 | S>C | No |
ClinGen Ensembl |
|
|
rs1186689076 CA410608977 |
330 | S>R | No |
ClinGen gnomAD |
|
|
rs1258892555 CA410608960 |
332 | N>D | No |
ClinGen gnomAD |
|
|
CA321326553 rs777862648 |
333 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1318963282 CA410608876 |
344 | R>W | No |
ClinGen gnomAD |
|
|
rs1011104136 CA321326531 |
349 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA321326524 rs755828031 |
351 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs767076281 CA321326512 |
352 | Q>R | No |
ClinGen ExAC |
|
|
rs145582574 CA321326490 |
358 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748034105 CA321326488 |
359 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs768488074 CA321326486 |
360 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1006861899 CA410608767 |
362 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1461042917 CA410608721 |
370 | S>N | No |
ClinGen gnomAD |
|
|
CA410608699 rs1373065758 |
373 | E>D | No |
ClinGen gnomAD |
|
|
rs1330320245 CA410608684 |
374 | V>M | No |
ClinGen gnomAD |
|
|
CA321326207 rs764317592 |
376 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1044590906 CA321326174 |
382 | D>A | No |
ClinGen TOPMed |
|
|
CA410608633 rs770570987 |
382 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256783641 CA410608614 |
385 | R>* | No |
ClinGen gnomAD |
|
|
CA410608612 rs545863305 |
385 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757972574 CA321326163 |
386 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs757972574 CA410608611 |
386 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA321326157 rs780485058 |
388 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs756613890 CA321326146 |
390 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1289826368 CA410608587 |
390 | C>Y | No |
ClinGen gnomAD |
|
|
rs767792479 CA321326144 |
391 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs767792479 CA321326142 |
391 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1415965358 CA410608569 |
393 | P>S | No |
ClinGen gnomAD |
|
|
rs759414485 CA321326125 |
397 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA410608506 rs1473744379 |
403 | A>P | No |
ClinGen gnomAD |
|
|
CA321326099 rs747587815 |
404 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA321326097 rs148319941 |
406 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs751793387 CA321326087 CA321326085 |
411 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA321326079 rs368079556 |
412 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1366343725 CA410608430 |
414 | Q>H | No |
ClinGen gnomAD |
|
|
rs576004285 CA321325967 |
417 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768197130 CA321325954 |
420 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs775069034 CA321325936 |
421 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1221179689 CA410608364 |
423 | A>T | No |
ClinGen gnomAD |
|
|
rs370296868 CA321325933 |
424 | S>G | No |
ClinGen ESP |
|
|
CA410608349 rs1371387846 |
425 | C>S | No |
ClinGen gnomAD |
|
|
CA321325927 rs565748824 |
427 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA410608317 rs1310973910 |
429 | F>L | No |
ClinGen gnomAD |
|
|
rs1372397674 CA410608324 |
429 | F>L | No |
ClinGen gnomAD |
|
|
CA410608315 rs143953116 |
430 | R>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1159043072 CA410608310 |
431 | P>H | No |
ClinGen gnomAD |
|
|
rs778947480 CA410608305 |
432 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA321325917 rs755237543 |
433 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA410608291 rs1485607281 |
435 | S>C | No |
ClinGen gnomAD |
|
|
rs1212605809 CA410608277 |
437 | S>R | No |
ClinGen gnomAD |
|
|
CA410608262 rs1160222772 |
440 | L>Q | No |
ClinGen gnomAD |
|
|
rs1306546228 CA410608248 |
442 | T>I | No |
ClinGen gnomAD |
|
|
CA410608245 rs1229147307 |
443 | A>T | No |
ClinGen gnomAD |
|
|
rs1291473406 CA410608235 |
444 | I>T | No |
ClinGen gnomAD |
|
|
CA410608238 rs1352384391 |
444 | I>V | No |
ClinGen gnomAD |
|
|
rs1432976972 CA410608208 |
448 | A>T | No |
ClinGen gnomAD |
|
|
rs763587662 CA321325886 |
449 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA410608180 rs1304372172 |
452 | P>S | No |
ClinGen gnomAD |
|
|
CA321325879 rs377535420 |
457 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1458394711 CA410608135 |
459 | D>N | No |
ClinGen gnomAD |
|
|
rs1423749437 CA410608119 |
461 | Q>P | No |
ClinGen gnomAD |
|
|
rs1423749437 CA410608118 |
461 | Q>R | No |
ClinGen gnomAD |
|
|
CA321325861 rs748461547 |
465 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA410608078 rs1209634149 |
467 | S>I | No |
ClinGen gnomAD |
|
| VAR_041090 | 469 | G>D | a metastatic melanoma sample; somatic mutation [UniProt] | No | UniProt |
|
COSM1225728 CA321325847 rs768708410 |
470 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs745682164 CA321325850 |
470 | R>W | No |
ClinGen gnomAD |
|
|
rs977590207 CA321325839 |
473 | T>P | No |
ClinGen gnomAD |
|
|
CA321325828 rs370653971 |
476 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs867103640 CA321325820 |
478 | S>F | No |
ClinGen Ensembl |
|
|
rs756249946 CA321325824 |
478 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs745789906 CA321325817 |
479 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1247824638 CA410608009 |
480 | R>C | No |
ClinGen gnomAD |
|
|
rs1189551206 CA410608004 |
480 | R>L | No |
ClinGen gnomAD |
|
|
rs781047363 CA321325815 |
483 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA410607986 rs757191457 |
484 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs757191457 CA321325811 |
484 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs369897512 CA410607971 |
486 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225191975 CA410607974 |
486 | A>T | No |
ClinGen gnomAD |
|
|
CA321325547 rs769962713 |
488 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA321325536 rs759776730 |
489 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM3390016 CA321325531 rs140222760 |
491 | V>I | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA410607923 rs777710420 |
493 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs747938877 CA321325517 |
493 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs747938877 CA321325520 |
493 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA321325527 rs777710420 |
493 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs777710420 CA410607924 |
493 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1569014834 CA410607916 |
494 | S>F | No |
ClinGen Ensembl |
|
|
rs1415392063 CA410607900 |
497 | A>V | No |
ClinGen gnomAD |
|
|
CA410607896 rs755704300 |
498 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA321325506 rs755704300 |
498 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs373399488 CA321325505 |
499 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA321325503 rs373399488 |
499 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA410607883 rs1456877048 |
500 | A>V | No |
ClinGen gnomAD |
|
|
CA410607838 rs1236834236 |
507 | S>N | No |
ClinGen gnomAD |
|
|
rs1443904233 CA410607810 |
511 | F>S | No |
ClinGen gnomAD |
|
|
CA321325480 rs776898156 |
512 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs766524279 CA321325475 |
513 | A>T | No |
ClinGen ExAC |
|
|
CA321325454 rs745341648 |
520 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1407897354 CA410607744 |
522 | G>D | No |
ClinGen gnomAD |
|
|
CA321325450 rs758915951 |
523 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA410607731 rs754208362 |
525 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA321325438 rs754208362 |
525 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA410607722 rs1398220077 |
526 | T>I | No |
ClinGen gnomAD |
|
|
CA321325435 rs766585987 |
526 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA321325430 rs760832170 |
527 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1555891024 CA410607713 |
528 | G>R | No |
ClinGen Ensembl |
|
|
rs374747938 CA410607688 |
532 | A>G | No |
ClinGen gnomAD |
|
|
rs374747938 COSM1495167 CA321325420 |
532 | A>V | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs376620057 CA321325419 |
533 | C>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA321325418 rs34704670 |
534 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA321325417 rs34704670 |
534 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA321325403 rs780721780 |
536 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA410607657 rs1569014707 |
538 | L>Q | No |
ClinGen Ensembl |
|
|
CA410607651 rs1366274369 |
539 | A>V | No |
ClinGen gnomAD |
|
|
rs1324226659 CA410607637 |
542 | F>L | No |
ClinGen gnomAD |
|
|
CA321325392 rs139396354 |
542 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1251535903 CA410607629 |
543 | L>V | No |
ClinGen gnomAD |
|
|
rs761922703 CA321325369 |
548 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA321325366 rs751692045 |
551 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410607558 rs1234493756 |
555 | Q>* | No |
ClinGen gnomAD |
|
|
CA410607556 rs1273097266 |
555 | Q>R | No |
ClinGen gnomAD |
|
|
rs536432626 CA321325356 CA321325353 |
556 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs536432626 CA321325352 |
556 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs372101645 CA321325347 |
557 | G>V | No |
ClinGen Ensembl |
|
|
CA321325344 rs769517891 |
558 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA321325341 rs759213567 |
559 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs776089754 CA321325335 |
560 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1569014646 CA410607533 |
560 | G>R | No |
ClinGen Ensembl |
|
|
CA410607525 rs1275515594 |
561 | A>G | No |
ClinGen gnomAD |
|
|
CA410607520 rs1438698470 |
562 | V>I | No |
ClinGen gnomAD |
|
|
rs1569014633 CA410607513 |
563 | L>P | No |
ClinGen Ensembl |
|
|
CA321325332 rs770574136 |
564 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372205148 CA410607500 |
566 | V>L | No |
ClinGen gnomAD |
|
|
rs769126548 CA321325309 |
571 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs539986405 CA321325300 |
572 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs780458020 CA321325296 |
573 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA410607453 rs1468139279 |
573 | R>W | No |
ClinGen gnomAD |
|
|
CA410607432 rs1278106606 |
576 | D>E | No |
ClinGen gnomAD |
|
|
rs781208075 CA321325276 |
577 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA321324995 rs560762159 |
583 | L>P | No |
ClinGen 1000Genomes |
|
|
rs1432461881 CA410607356 |
587 | R>W | No |
ClinGen gnomAD |
|
|
rs765044171 CA321324991 |
589 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA410607313 rs1213060998 |
593 | T>S | No |
ClinGen TOPMed |
|
|
CA410607305 rs1163252803 |
595 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1423693054 CA410607299 |
596 | T>I | No |
ClinGen gnomAD |
|
|
CA321324963 rs761165660 |
598 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA321324965 rs761165660 |
598 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA410607248 rs1601507026 |
604 | K>R | No |
ClinGen Ensembl |
|
|
CA410607238 rs1463766532 |
605 | I>M | No |
ClinGen gnomAD |
|
|
CA410607224 rs1247630650 |
607 | G>E | No |
ClinGen gnomAD |
|
|
rs770153649 CA321324955 |
610 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA410607209 rs770153649 |
610 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA410607197 rs1314615265 |
612 | V>E | No |
ClinGen gnomAD |
|
|
rs1322191001 CA410607199 |
612 | V>L | No |
ClinGen gnomAD |
|
|
rs746438483 CA321324944 |
613 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs786205161 CA410607186 |
614 | Q>E | No |
ClinGen gnomAD |
|
|
rs430554 CA410607177 |
615 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
rs1387977736 CA410607174 |
616 | P>S | No |
ClinGen gnomAD |
|
|
rs779097101 CA321324930 |
617 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754837189 CA321324929 |
617 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1165909599 CA410607164 |
618 | S>I | No |
ClinGen TOPMed |
|
|
CA410607167 rs1165929782 |
618 | S>R | No |
ClinGen gnomAD |
|
|
rs753876981 CA321324925 |
619 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA321324905 rs750227317 |
620 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA410607156 rs750227317 |
620 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1265372508 CA410607142 |
622 | R>G | No |
ClinGen gnomAD |
|
|
CA321324897 rs773713469 |
624 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA410607108 rs1298011149 |
627 | P>L | No |
ClinGen gnomAD |
|
|
rs771569126 CA321324882 |
629 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA321324878 rs773733210 |
630 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA410607085 rs748439779 |
631 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA321324871 rs748439779 |
631 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs772160719 CA321324875 |
631 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA321324856 rs778851385 |
633 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755139643 CA321324854 |
634 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1198318990 CA410607056 |
637 | L>M | No |
ClinGen gnomAD |
|
|
CA321324838 rs781091892 |
638 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA410607041 rs1179963003 |
639 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA410607042 rs1179963003 |
639 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA321324807 rs368632078 |
641 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200113096 CA321324800 |
642 | A>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA321324790 rs772551532 |
644 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA410607003 rs768761608 |
646 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1400394036 CA410607000 |
647 | G>R | No |
ClinGen gnomAD |
|
|
rs1172180577 CA410606998 |
647 | G>V | No |
ClinGen gnomAD |
|
|
rs780134399 CA321324783 |
653 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA321324784 rs749330576 |
653 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA410606926 rs1385465113 |
658 | Q>* | No |
ClinGen gnomAD |
|
|
CA410606876 rs1360734439 |
664 | Q>* | No |
ClinGen gnomAD |
|
|
CA410606846 rs1311991936 |
668 | A>D | No |
ClinGen gnomAD |
|
|
CA321324543 rs754477690 |
668 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA410606839 rs1320308572 |
669 | A>V | No |
ClinGen gnomAD |
|
|
CA410606825 rs1601506531 |
672 | G>V | No |
ClinGen Ensembl |
|
|
rs1601506521 CA410606810 |
674 | S>Y | No |
ClinGen Ensembl |
|
|
rs1243359456 CA410606795 |
676 | A>V | No |
ClinGen gnomAD |
|
|
rs567040219 CA321324521 |
679 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1223738587 CA410606776 |
680 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs776595772 CA321324516 |
683 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410606757 rs1436513514 |
683 | P>S | No |
ClinGen TOPMed |
|
|
CA410606746 rs1272074913 |
685 | V>M | No |
ClinGen gnomAD |
|
|
rs1303657487 CA410606733 |
687 | A>D | No |
ClinGen gnomAD |
|
|
rs549619122 CA321324499 |
688 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA321324496 rs772047499 |
689 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA410606692 rs1430006007 |
694 | A>T | No |
ClinGen gnomAD |
|
|
CA321324490 rs926515568 |
695 | A>P | No |
ClinGen TOPMed |
|
|
rs778637849 CA410606682 |
696 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA410606670 rs1200805120 |
698 | P>S | No |
ClinGen gnomAD |
|
|
CA410606658 rs1272935450 |
700 | T>A | No |
ClinGen gnomAD |
|
|
rs1283951144 CA410606626 |
705 | G>E | No |
ClinGen gnomAD |
|
|
rs753064938 CA321324439 |
709 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA410606598 rs1413502779 |
710 | P>L | No |
ClinGen gnomAD |
|
|
CA410606587 rs1601506374 |
712 | P>L | No |
ClinGen Ensembl |
|
|
CA321324426 rs765405323 |
712 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1481741730 CA410606581 |
713 | L>R | No |
ClinGen gnomAD |
|
|
CA321324414 rs766433765 |
717 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA321324406 rs374537813 |
718 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA321324395 rs144982159 |
720 | P>S | No |
ClinGen gnomAD |
|
|
rs1177020740 CA410606538 |
721 | V>G | No |
ClinGen gnomAD |
|
|
CA321324370 rs560718043 |
724 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1455170417 CA410606499 |
728 | L>Q | No |
ClinGen gnomAD |
|
|
CA410606486 rs1410454168 |
730 | T>S | No |
ClinGen gnomAD |
|
|
RCV000522362 rs1555890879 CA410606481 |
731 | H>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1205921315 CA410606473 |
732 | L>M | No |
ClinGen gnomAD |
|
|
CA410606471 rs1420156076 |
732 | L>P | No |
ClinGen gnomAD |
|
|
CA321324351 rs758936540 |
734 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs541090322 CA321324291 |
744 | V>M | No |
ClinGen 1000Genomes |
|
|
CA321324284 rs375516507 |
748 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA321324272 rs774949003 |
751 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1289635461 CA410606366 |
751 | R>T | No |
ClinGen Ensembl |
|
|
rs1444363139 CA410606355 |
753 | A>D | No |
ClinGen gnomAD |
|
|
rs1444363139 CA410606356 |
753 | A>G | No |
ClinGen gnomAD |
|
|
rs555153072 CA321324264 |
753 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs555153072 CA410606357 |
753 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1444363139 CA410606354 |
753 | A>V | No |
ClinGen gnomAD |
|
|
CA410606348 rs1386208045 |
754 | P>L | No |
ClinGen gnomAD |
|
|
rs1447824050 CA410606343 |
755 | G>D | No |
ClinGen gnomAD |
|
|
CA410606346 rs1569013758 |
755 | G>R | No |
ClinGen Ensembl |
|
|
rs1205784111 CA410606311 |
760 | G>E | No |
ClinGen gnomAD |
|
|
CA410606309 rs1205784111 |
760 | G>V | No |
ClinGen gnomAD |
|
|
CA321324247 rs755238635 |
765 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA410606246 rs1363928491 |
770 | D>N | No |
ClinGen gnomAD |
|
|
CA410606227 rs1569013730 |
772 | M>I | No |
ClinGen Ensembl |
|
|
CA321324233 rs780096786 |
773 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA410606223 rs780096786 |
773 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs756377602 CA410606218 |
774 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410606192 rs1364747671 |
778 | T>M | No |
ClinGen gnomAD |
|
|
rs1424527950 CA410606181 |
780 | V>I | No |
ClinGen gnomAD |
|
|
CA321324228 rs750505640 |
782 | V>E | No |
ClinGen ExAC gnomAD |
2 associated diseases with P57059
[MIM: 616341]: Developmental and epileptic encephalopathy 30 (DEE30)
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. {ECO:0000269|PubMed:25839329}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. {ECO:0000269|PubMed:25839329}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for P57059
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 27 - 278 | IPR000719 |
| active_site | Serine/threonine-protein kinase, active site | 145 - 157 | IPR008271 |
| domain | Ubiquitin-associated domain | 303 - 343 | IPR015940 |
| binding_site | Protein kinase, ATP binding site | 33 - 56 | IPR017441 |
| domain | Salt-Inducible kinase, catalytic domain | 26 - 278 | IPR034672 |
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. |
| 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. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| 14-3-3 protein binding | Binding to a 14-3-3 protein. A 14-3-3 protein is any of a large family of approximately 30kDa acidic proteins which exist primarily as homo- and heterodimers within all eukaryotic cells, and have been implicated in the modulation of distinct biological processes by binding to specific phosphorylated sites on diverse target proteins, thereby forcing conformational changes or influencing interactions between their targets and other molecules. Each 14-3-3 protein sequence can be roughly divided into three sections: a divergent amino terminus, the conserved core region and a divergent carboxy-terminus. The conserved middle core region of the 14-3-3s encodes an amphipathic groove that forms the main functional domain, a cradle for interacting with client proteins. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| cAMP response element binding protein binding | Binding to a cAMP response element binding protein (a CREB protein). |
| histone deacetylase binding | Binding to histone deacetylase. |
| magnesium ion binding | Binding to a magnesium (Mg) ion. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| 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. |
17 GO annotations of biological process
| Name | Definition |
|---|---|
| anoikis | Apoptosis triggered by inadequate or inappropriate adherence to substrate e.g. after disruption of the interactions between normal epithelial cells and the extracellular matrix. |
| cardiac muscle cell differentiation | The process in which a cardiac muscle precursor cell acquires specialized features of a cardiac muscle cell. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. |
| cell cycle | The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. |
| cellular response to glucose starvation | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of glucose. |
| entrainment of circadian clock by photoperiod | The synchronization of a circadian rhythm to photoperiod, the intermittent cycle of light (day) and dark (night). |
| 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. |
| negative regulation of CREB transcription factor activity | Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of the transcription factor CREB. |
| negative regulation of gluconeogenesis | Any process that stops, prevents, or reduces the frequency, rate or extent of gluconeogenesis. |
| negative regulation of triglyceride biosynthetic process | Any process that decreases the rate, frequency, or extent of triglyceride biosynthesis. Triglyceride biosynthesis is the collection of chemical reactions and pathways resulting in the formation of triglyceride, any triester of glycerol. |
| positive regulation of anoikis | Any process that activates or increases the frequency, rate or extent of anoikis. |
| protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of cell differentiation | Any process that modulates the frequency, rate or extent of cell differentiation, the process in which relatively unspecialized cells acquire specialized structural and functional features. |
| regulation of mitotic cell cycle | Any process that modulates the rate or extent of progress through the mitotic cell cycle. |
| regulation of myotube differentiation | Any process that modulates the frequency, rate or extent of myotube differentiation. Myotube differentiation is the process in which a relatively unspecialized cell acquires specialized features of a myotube cell. Myotubes are multinucleated cells that are formed when proliferating myoblasts exit the cell cycle, differentiate and fuse. |
| regulation of sodium ion transport | Any process that modulates the frequency, rate or extent of the directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| rhythmic process | Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism. |
43 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P06782 | SNF1 | Carbon catabolite-derepressing protein kinase | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | EV |
| Q96L34 | MARK4 | MAP/microtubule affinity-regulating kinase 4 | Homo sapiens (Human) | SS |
| Q7KZI7 | MARK2 | Serine/threonine-protein kinase MARK2 | Homo sapiens (Human) | SS |
| P27448 | MARK3 | MAP/microtubule affinity-regulating kinase 3 | Homo sapiens (Human) | SS |
| Q9P0L2 | MARK1 | Serine/threonine-protein kinase MARK1 | Homo sapiens (Human) | EV |
| O14757 | CHEK1 | Serine/threonine-protein kinase Chk1 | Homo sapiens (Human) | EV |
| Q8IWQ3 | BRSK2 | Serine/threonine-protein kinase BRSK2 | Homo sapiens (Human) | PR |
| Q8TDC3 | BRSK1 | Serine/threonine-protein kinase BRSK1 | Homo sapiens (Human) | SS |
| Q14680 | MELK | Maternal embryonic leucine zipper kinase | Homo sapiens (Human) | EV |
| Q9NRH2 | SNRK | SNF-related serine/threonine-protein kinase | Homo sapiens (Human) | SS |
| Q9BXA7 | TSSK1B | Testis-specific serine/threonine-protein kinase 1 | Homo sapiens (Human) | PR |
| O60285 | NUAK1 | NUAK family SNF1-like kinase 1 | Homo sapiens (Human) | PR |
| Q13131 | PRKAA1 | 5'-AMP-activated protein kinase catalytic subunit alpha-1 | Homo sapiens (Human) | EV |
| P54646 | PRKAA2 | 5'-AMP-activated protein kinase catalytic subunit alpha-2 | Homo sapiens (Human) | EV |
| Q8VHJ5 | Mark1 | Serine/threonine-protein kinase MARK1 | Mus musculus (Mouse) | SS |
| Q8C0N0 | Gm4922 | Sperm motility kinase Z | Mus musculus (Mouse) | PR |
| Q8C0X8 | Sperm motility kinase X | Mus musculus (Mouse) | PR | |
| Q03141 | Mark3 | MAP/microtubule affinity-regulating kinase 3 | Mus musculus (Mouse) | SS |
| Q8CIP4 | Mark4 | MAP/microtubule affinity-regulating kinase 4 | Mus musculus (Mouse) | SS |
| A0AUV4 | Gm7168 | Sperm motility kinase Y | Mus musculus (Mouse) | PR |
| Q05512 | Mark2 | Serine/threonine-protein kinase MARK2 | Mus musculus (Mouse) | SS |
| O08678 | Mark1 | Serine/threonine-protein kinase MARK1 | Rattus norvegicus (Rat) | SS |
| Q8VHF0 | Mark3 | MAP/microtubule affinity-regulating kinase 3 | Rattus norvegicus (Rat) | SS |
| O08679 | Mark2 | Serine/threonine-protein kinase MARK2 | Rattus norvegicus (Rat) | SS |
| Q5QNM6 | CIPK13 | Putative CBL-interacting protein kinase 13 | Oryza sativa subsp japonica (Rice) | PR |
| Q8LIG4 | CIPK3 | CBL-interacting protein kinase 3 | Oryza sativa subsp japonica (Rice) | PR |
| Q852Q1 | OSK4 | Serine/threonine protein kinase OSK4 | Oryza sativa subsp. japonica (Rice) | SS |
| Q852Q2 | OSK1 | Serine/threonine protein kinase OSK1 | Oryza sativa subsp. japonica (Rice) | SS |
| Q6ZLP5 | CIPK23 | CBL-interacting protein kinase 23 | Oryza sativa subsp japonica (Rice) | PR |
| Q2RAX3 | CIPK33 | CBL-interacting protein kinase 33 | Oryza sativa subsp japonica (Rice) | PR |
| Q2QY53 | CIPK32 | CBL-interacting protein kinase 32 | Oryza sativa subsp japonica (Rice) | PR |
| Q9TW45 | par-1 | Serine/threonine-protein kinase par-1 | Caenorhabditis elegans | SS |
| Q21017 | kin-29 | Serine/threonine-protein kinase kin-29 | Caenorhabditis elegans | SS |
| Q9LDI3 | CIPK24 | CBL-interacting serine/threonine-protein kinase 24 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q93VD3 | CIPK23 | CBL-interacting serine/threonine-protein kinase 23 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FJ54 | CIPK20 | CBL-interacting serine/threonine-protein kinase 20 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O65554 | CIPK6 | CBL-interacting serine/threonine-protein kinase 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O22971 | CIPK13 | CBL-interacting serine/threonine-protein kinase 13 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q94CG0 | CIPK21 | CBL-interacting serine/threonine-protein kinase 21 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FLZ3 | KIN12 | SNF1-related protein kinase catalytic subunit alpha KIN12 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q2V452 | CIPK3 | CBL-interacting serine/threonine-protein kinase 3 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| P92958 | KIN11 | SNF1-related protein kinase catalytic subunit alpha KIN11 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38997 | KIN10 | SNF1-related protein kinase catalytic subunit alpha KIN10 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVIMSEFSAD | PAGQGQGQQK | PLRVGFYDIE | RTLGKGNFAV | VKLARHRVTK | TQVAIKIIDK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TRLDSSNLEK | IYREVQLMKL | LNHPHIIKLY | QVMETKDMLY | IVTEFAKNGE | MFDYLTSNGH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LSENEARKKF | WQILSAVEYC | HDHHIVHRDL | KTENLLLDGN | MDIKLADFGF | GNFYKSGEPL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| STWCGSPPYA | APEVFEGKEY | EGPQLDIWSL | GVVLYVLVCG | SLPFDGPNLP | TLRQRVLEGR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FRIPFFMSQD | CESLIRRMLV | VDPARRITIA | QIRQHRWMRA | EPCLPGPACP | AFSAHSYTSN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LGDYDEQALG | IMQTLGVDRQ | RTVESLQNSS | YNHFAAIYYL | LLERLKEYRN | AQCARPGPAR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QPRPRSSDLS | GLEVPQEGLS | TDPFRPALLC | PQPQTLVQSV | LQAEMDCELQ | SSLQWPLFFP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VDASCSGVFR | PRPVSPSSLL | DTAISEEARQ | GPGLEEEQDT | QESLPSSTGR | RHTLAEVSTR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LSPLTAPCIV | VSPSTTASPA | EGTSSDSCLT | FSASKSPAGL | SGTPATQGLL | GACSPVRLAS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PFLGSQSATP | VLQAQGGLGG | AVLLPVSFQE | GRRASDTSLT | QGLKAFRQQL | RKTTRTKGFL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GLNKIKGLAR | QVCQAPASRA | SRGGLSPFHA | PAQSPGLHGG | AAGSREGWSL | LEEVLEQQRL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LQLQHHPAAA | PGCSQAPQPA | PAPFVIAPCD | GPGAAPLPST | LLTSGLPLLP | PPLLQTGASP |
| 730 | 740 | 750 | 760 | 770 | 780 |
| VASAAQLLDT | HLHIGTGPTA | LPAVPPPRLA | RLAPGCEPLG | LLQGDCEMED | LMPCSLGTFV |
| LVQ |