Q13418
PR
Gene name |
ILK |
Protein name |
Integrin-linked protein kinase |
Names |
59 kDa serine/threonine-protein kinase, Beta-integrin-linked kinase, ILK-1, ILK-2, p59ILK |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3611 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
10 structures for Q13418
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2KBX | NMR | - | A | 1-171 | PDB |
| 3F6Q | X-ray | 160 A | A | 1-170 | PDB |
| 3IXE | X-ray | 190 A | A | 1-174 | PDB |
| 3KMU | X-ray | 180 A | A | 183-452 | PDB |
| 3KMW | X-ray | 200 A | A | 183-452 | PDB |
| 3REP | X-ray | 180 A | A | 183-452 | PDB |
| 4HI8 | X-ray | 120 A | A | 1-174 | PDB |
| 4HI9 | X-ray | 120 A | A | 1-174 | PDB |
| 6MIB | X-ray | 180 A | A | 182-452 | PDB |
| AF-Q13418-F1 | Predicted | AlphaFoldDB |
385 variants for Q13418
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA379451685 rs1342682020 RCV001059223 |
3 | D>H | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA335189 rs114115159 RCV001529459 RCV000227217 RCV000183457 RCV000852646 |
22 | N>S | Cardiomyopathy Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs587782950 RCV000143900 |
31 | D>missing | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5857953 RCV000555076 rs145039481 RCV000497634 |
44 | E>Q | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs200336608 RCV000757406 CA335192 RCV000157246 |
53 | L>M | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA379454932 rs781296730 RCV001053599 |
55 | M>V | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000820041 rs746571606 |
55 | M>missing | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001069447 CA5857965 rs778110752 |
57 | G>R | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP ClinGen ExAC gnomAD |
|
RCV001314361 rs779428507 |
59 | R>G | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000706695 RCV000183459 rs779428507 CA335196 |
59 | R>W | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000183460 CA335199 RCV002314688 RCV001305619 rs768146142 |
62 | V>I | Primary familial hypertrophic cardiomyopathy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5857969 RCV001045425 rs776161614 |
65 | R>C | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000529247 rs763031937 CA5857975 |
69 | T>I | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1564845235 CA379455592 RCV000690520 |
75 | A>P | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1589934860 RCV000812749 CA379455808 |
79 | H>L | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000482953 RCV002526513 rs777569798 RCV003168939 CA5858009 |
93 | I>V | Primary familial hypertrophic cardiomyopathy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1173338186 CA379456780 RCV001212152 |
99 | H>P | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000546414 rs764104201 CA5858017 |
113 | D>Y | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5858042 RCV001066281 rs201763536 |
143 | P>L | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA335182 rs139640491 RCV000183454 RCV000472252 |
145 | R>S | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs869025437 RCV000520010 RCV001211006 CA354002 RCV002327071 RCV000208422 |
149 | R>Q | Variant assessed as Somatic; 0.0 impact. Primary familial hypertrophic cardiomyopathy Long QT syndrome Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001054638 CA5858061 rs774837228 |
151 | R>Q | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002336728 rs199790448 RCV000824494 CA5858063 RCV001528263 |
156 | G>S | Primary familial hypertrophic cardiomyopathy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs747974626 CA5858073 RCV001506166 RCV000619469 |
168 | F>C | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1554898796 RCV000638616 CA379459953 CA379459960 |
168 | F>L | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen Ensembl ClinVar dbSNP |
|
CA5858079 rs192233749 RCV000621572 RCV001351095 |
174 | R>H | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000638614 CA5858105 rs761882549 RCV002358798 |
194 | N>D | Primary familial hypertrophic cardiomyopathy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001323102 rs1855236652 |
196 | L>V | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000811938 RCV000414750 CA16042761 rs1057518584 |
201 | E>K | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5858113 rs548542841 RCV001071240 |
205 | G>E | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000183461 RCV001529362 rs140322345 RCV000143901 CA335202 |
211 | R>C | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs200288502 RCV000609112 CA5858136 RCV002358743 RCV001236813 |
211 | R>H | Primary familial hypertrophic cardiomyopathy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA5858137 RCV001339475 rs758462999 |
212 | W>C | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000183462 RCV001088134 rs147368550 CA335205 |
223 | K>N | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA379461611 RCV001321849 rs1179732298 |
225 | R>* | Primary familial hypertrophic cardiomyopathy Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000757407 CA5858148 RCV001084716 rs145571020 |
236 | N>S | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA351689 rs869025438 RCV000208000 |
245 | F>Y | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001227385 rs1855289433 |
253 | V>L | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs779240233 RCV001337324 |
256 | A>T | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5858183 RCV000214294 rs750354350 RCV000692720 |
260 | P>S | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000043520 CA143751 rs387907366 VAR_069753 |
262 | A>V | Variant of unknown significance found in a patient with severe dilated cardiomyopathy; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA379462458 RCV001207142 rs1236862935 |
267 | L>V | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA217315735 rs912510389 RCV001314416 |
320 | L>V | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA346361 RCV002372025 RCV000157247 rs570806647 |
321 | N>S | Primary familial hypertrophic cardiomyopathy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA5858236 rs199652324 RCV001345837 |
323 | R>H | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA379466434 RCV001211196 rs1257537906 |
349 | R>C | Primary familial hypertrophic cardiomyopathy Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5858253 rs377094824 RCV001071863 COSM1210626 |
349 | R>H | Variant assessed as Somatic; 0.0 impact. pancreas Primary familial hypertrophic cardiomyopathy large_intestine [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs370480843 CA5858289 RCV001865539 RCV000494130 |
371 | R>H | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1855363075 RCV001041826 |
383 | W>* | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM930786 RCV001224448 CA217315984 rs776996356 |
388 | R>W | Variant assessed as Somatic; 0.0 impact. Primary familial hypertrophic cardiomyopathy endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
rs730880112 CA346365 RCV000157248 |
394 | D>N | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1855399834 RCV001035063 |
413 | I>N | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000547062 CA379468005 rs1554900104 |
418 | S>P | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1855401354 RCV001209258 RCV002224023 |
419 | P>L | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554900107 CA379468037 RCV000638615 |
420 | H>Y | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000810048 rs1477497923 CA379468333 |
436 | R>* | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs773362090 RCV001322222 CA5858351 |
436 | R>Q | Variant assessed as Somatic; 0.0 impact. Primary familial hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001327566 rs1855405973 |
441 | M>missing | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001345628 CA217316217 rs959927407 |
444 | P>H | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000701076 CA379468528 rs1234007742 |
451 | D>E | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs756620800 RCV001242658 CA5858358 |
453 | K>Q | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs775806437 CA5857905 |
4 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5857907 rs768835412 |
5 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs1589922171 CA379451728 |
6 | T>P | No |
ClinGen Ensembl |
|
|
CA5857908 rs777208312 |
9 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1257739609 CA379451802 |
10 | E>K | No |
ClinGen gnomAD |
|
|
CA379451827 rs1484835654 |
11 | G>S | No |
ClinGen gnomAD |
|
|
CA379451869 rs199789449 |
12 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5857910 rs765978022 |
12 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1196783653 CA379451902 |
14 | V>I | No |
ClinGen gnomAD |
|
|
rs759232977 CA379451942 |
15 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759232977 CA5857912 |
15 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1433310238 CA379451957 |
16 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA379451978 rs1177562092 |
17 | R>C | No |
ClinGen gnomAD |
|
|
rs767175625 CA5857914 |
19 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs752302392 CA5857915 |
21 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1362776450 CA379452034 |
21 | D>H | No |
ClinGen gnomAD |
|
|
CA379452085 rs1221055442 |
23 | T>M | No |
ClinGen gnomAD |
|
|
rs763787925 CA5857916 |
25 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA217311684 rs938593629 |
25 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1489118962 CA379452147 |
28 | N>S | No |
ClinGen gnomAD |
|
|
rs376074648 CA5857945 |
32 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379454130 rs1589934262 |
35 | F>S | No |
ClinGen Ensembl |
|
|
rs200679312 CA5857947 |
36 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1589934292 CA379454184 |
36 | S>P | No |
ClinGen Ensembl |
|
| TCGA novel | 39 | H>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1589934343 CA379454343 |
39 | H>P | No |
ClinGen Ensembl |
|
|
rs1589934364 CA379454369 |
40 | W>G | No |
ClinGen Ensembl |
|
|
rs774834539 CA5857950 |
41 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs760427367 CA5857951 |
41 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379454469 rs1427320498 |
43 | R>* | No |
ClinGen gnomAD |
|
|
CA5857952 COSM1703514 rs768217957 |
43 | R>Q | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA217313219 rs976603626 |
46 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs370736279 CA5857955 |
46 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA217313224 rs370736279 |
46 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379454617 rs1359613816 COSM1298467 |
47 | S>C | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA379454613 rs1359613816 |
47 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1564844918 CA379454621 |
48 | A>P | No |
ClinGen Ensembl |
|
|
CA5857956 rs201499797 RCV000498513 |
49 | V>A | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs1299706614 CA379454693 |
50 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs762978553 CA5857957 |
51 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA379454803 rs1347766100 |
52 | M>T | No |
ClinGen gnomAD |
|
|
CA5857959 rs529751196 |
52 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781296730 CA5857961 |
55 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5857962 rs752892842 |
55 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs141701406 CA379454973 |
56 | R>L | No |
ClinGen ESP TOPMed |
|
|
rs141701406 CA217313262 |
56 | R>P | No |
ClinGen ESP TOPMed |
|
|
rs141701406 CA217313274 |
56 | R>Q | No |
ClinGen ESP TOPMed |
|
|
CA5857964 rs756532224 |
56 | R>W | No |
ClinGen ExAC TOPMed |
|
|
CA379455056 rs1451247994 |
57 | G>E | No |
ClinGen gnomAD |
|
| rs770182262 | 58 | A>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379455073 rs1379386108 |
58 | A>T | No |
ClinGen gnomAD |
|
|
CA5857967 rs771408198 |
58 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA379455099 rs1589934637 |
59 | R>P | No |
ClinGen Ensembl |
|
|
rs1202745271 CA379455157 |
61 | N>D | No |
ClinGen TOPMed |
|
|
rs142258041 CA217313284 |
61 | N>I | No |
ClinGen Ensembl |
|
|
CA379455290 rs1589934692 |
64 | N>T | No |
ClinGen Ensembl |
|
|
rs761544290 CA379455314 |
65 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761544290 CA5857970 |
65 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5857971 rs769777691 |
66 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs773109315 CA379455403 |
69 | T>P | No |
ClinGen ExAC TOPMed |
|
|
CA5857974 rs763031937 |
69 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773109315 CA5857973 |
69 | T>S | No |
ClinGen ExAC TOPMed |
|
|
rs1306619165 CA379455468 |
70 | P>L | No |
ClinGen TOPMed |
|
|
rs776120061 RCV000190598 |
71 | L>missing | No |
ClinVar dbSNP |
|
| rs776120061 | 71 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA217313312 rs940177401 |
71 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA379455684 rs1355016857 |
76 | S>G | No |
ClinGen gnomAD |
|
|
CA5857977 rs759535056 |
76 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA217313333 rs760982982 |
77 | H>R | No |
ClinGen gnomAD |
|
|
CA217313329 rs750788075 |
77 | H>Y | No |
ClinGen gnomAD |
|
|
rs752932911 CA5857979 |
80 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1317956065 CA379456318 |
87 | L>S | No |
ClinGen TOPMed |
|
|
rs1208088812 CA379456373 |
88 | Q>H | No |
ClinGen gnomAD |
|
|
CA379456383 rs1589935783 |
89 | Y>H | No |
ClinGen Ensembl |
|
|
rs1254222245 CA379456415 |
89 | Y>S | No |
ClinGen gnomAD |
|
|
rs755641968 CA5858008 |
92 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1297687558 CA379456625 |
96 | V>M | No |
ClinGen gnomAD |
|
|
rs1429815250 CA379456764 |
99 | H>Y | No |
ClinGen gnomAD |
|
|
CA5858013 rs745845608 |
100 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA379456818 rs1564845744 |
100 | G>V | No |
ClinGen Ensembl |
|
|
CA5858014 rs772071519 |
105 | H>N | No |
ClinGen ExAC |
|
|
CA217313596 rs912914236 |
105 | H>Q | No |
ClinGen Ensembl |
|
|
rs760749828 CA5858016 |
110 | W>* | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel CA5858015 rs775369494 |
110 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
CA217313614 rs1046377574 |
112 | Q>E | No |
ClinGen Ensembl |
|
|
rs1190579004 CA379457500 |
116 | A>V | No |
ClinGen TOPMed |
|
|
rs1368347084 CA379457846 |
122 | N>Y | No |
ClinGen gnomAD |
|
|
rs745709169 CA5858031 |
124 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745709169 CA379457928 |
124 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379457955 rs1351412742 |
125 | L>P | No |
ClinGen gnomAD |
|
|
rs1305586718 CA379457948 |
125 | L>V | No |
ClinGen gnomAD |
|
|
rs779981802 CA5858033 |
126 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200151088 CA5858032 |
126 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000786321 rs1332744590 CA379458120 |
129 | C>S | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1332744590 CA379458118 |
129 | C>Y | No |
ClinGen TOPMed |
|
|
CA379458224 rs1408959161 |
131 | K>N | No |
ClinGen TOPMed |
|
|
CA5858036 rs776660725 |
132 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5858035 rs768791411 |
132 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5858038 rs770076288 |
133 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA5858037 rs761991240 |
133 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA379458283 rs1439612462 CA379458286 |
134 | E>D | No |
ClinGen gnomAD |
|
|
rs773265619 CA5858039 |
137 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1564846152 CA379458485 |
140 | A>T | No |
ClinGen Ensembl |
|
|
CA5858040 rs187795252 |
141 | K>R | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 142 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200920329 CA5858041 |
143 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA217313767 rs1020047266 |
146 | E>A | No |
ClinGen Ensembl |
|
| TCGA novel | 146 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5858045 rs753415741 |
147 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5858046 rs756684423 |
147 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA379458744 rs1279951909 |
149 | R>* | No |
ClinGen gnomAD |
|
|
CA5858060 rs771485363 |
151 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 153 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 153 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001574022 CA217313834 rs867451051 |
153 | E>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
| TCGA novel | 153 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1027674317 CA217313841 |
154 | K>M | No |
ClinGen TOPMed |
|
|
CA5858062 rs759935148 |
154 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 156 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761400440 CA5858065 |
161 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA217313850 rs569140095 |
161 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs569140095 CA379459769 |
161 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1441174976 CA379459797 |
162 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 162 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764641628 CA5858066 |
162 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5858070 rs751375651 |
164 | Y>* | No |
ClinGen ExAC |
|
|
CA5858069 rs766210285 |
164 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5858071 rs754728057 |
165 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs781192537 CA5858072 |
166 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs756271344 CA5858074 |
172 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756271344 CA5858075 |
172 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5858076 rs372608079 |
173 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs372608079 CA5858077 |
173 | T>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5858078 rs201671181 |
174 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA379460171 rs1378123090 |
175 | T>I | No |
ClinGen TOPMed |
|
|
CA379460193 rs1282667873 |
176 | R>Q | No |
ClinGen TOPMed |
|
|
rs1333269100 CA379460187 COSM1703515 |
176 | R>W | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1375799547 CA379460229 |
178 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs370953374 CA5858101 |
181 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5858102 rs777155173 |
182 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1238498641 CA379460505 |
183 | N>K | No |
ClinGen gnomAD |
|
|
rs762454800 CA5858103 |
184 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs944132049 CA217314043 |
185 | H>P | No |
ClinGen TOPMed |
|
| TCGA novel | 185 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1406793461 CA379460617 |
187 | G>V | No |
ClinGen TOPMed |
|
|
rs768573364 CA217314047 |
188 | I>V | No |
ClinGen Ensembl |
|
|
CA379460804 rs1287846517 |
195 | F>I | No |
ClinGen gnomAD |
|
|
rs767383055 CA379460845 |
197 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs767383055 CA5858107 |
197 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA5858108 rs752409651 |
199 | L>F | No |
ClinGen ExAC |
|
|
rs1176547292 CA379461033 |
202 | N>S | No |
ClinGen gnomAD |
|
|
rs528392640 CA5858111 |
203 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA379461056 rs1362965691 |
203 | H>Y | No |
ClinGen gnomAD |
|
|
rs1196872015 CA379461099 |
204 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA5858112 rs757473698 |
205 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 208 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1316191093 CA379461274 |
209 | K>E | No |
ClinGen gnomAD |
|
|
CA379461304 rs1564847378 |
210 | G>D | No |
ClinGen Ensembl |
|
|
CA379461299 rs1252024448 |
210 | G>S | No |
ClinGen TOPMed |
|
|
rs374924048 CA5858140 |
214 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374924048 CA5858139 |
214 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 214 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs189208619 CA5858141 |
215 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs576804127 CA217314206 |
216 | D>G | No |
ClinGen gnomAD |
|
|
rs142708585 CA5858142 |
216 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA217314210 rs1050368247 |
217 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs981185597 CA217314213 |
218 | V>I | No |
ClinGen TOPMed |
|
|
CA5858144 rs545926425 |
219 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463931296 CA379461539 |
220 | K>R | No |
ClinGen gnomAD |
|
|
rs1589938974 CA379461554 |
221 | V>G | No |
ClinGen Ensembl |
|
|
CA379461599 rs1375167000 |
224 | V>F | No |
ClinGen gnomAD |
|
|
CA379461609 rs1179732298 |
225 | R>G | No |
ClinGen TOPMed |
|
|
rs1315052873 CA379461618 |
225 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs767471424 CA217314230 |
226 | D>H | No |
ClinGen Ensembl |
|
|
rs1054278826 CA217314233 |
227 | W>R | No |
ClinGen TOPMed |
|
|
CA379461684 rs1589939088 |
228 | S>R | No |
ClinGen Ensembl |
|
|
rs955720414 CA217314235 |
229 | T>A | No |
ClinGen TOPMed |
|
|
CA5858147 rs775067414 |
232 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA217314254 rs914470282 |
238 | E>G | No |
ClinGen TOPMed |
|
|
rs148428064 CA5858149 |
238 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776545789 CA5858150 |
239 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA5858151 rs776545789 |
239 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA217314256 rs762502276 |
239 | C>Y | No |
ClinGen TOPMed |
|
|
rs773215648 CA5858153 |
241 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5858152 rs765298592 |
241 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1185447961 CA379461955 |
242 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 243 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1589939732 CA379462088 |
244 | I>F | No |
ClinGen Ensembl |
|
|
rs773291077 CA217314321 |
250 | V>M | No |
ClinGen Ensembl |
|
|
rs1222959517 CA379462279 |
253 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA379462312 rs1385486344 |
255 | G>V | No |
ClinGen TOPMed |
|
|
CA5858181 rs779240233 |
256 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs746561372 CA5858182 |
258 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs750354350 CA379462375 |
260 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1564848137 CA379462436 |
265 | P>A | No |
ClinGen Ensembl |
|
|
rs747788514 CA5858185 |
265 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1164411308 CA379462463 |
267 | L>P | No |
ClinGen TOPMed |
|
|
rs749229669 CA5858188 |
268 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5858187 rs777593652 |
268 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs770920688 CA5858189 |
269 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1164312453 CA379462543 |
271 | W>* | No |
ClinGen gnomAD |
|
|
rs1388336535 CA379462565 |
272 | M>I | No |
ClinGen TOPMed |
|
|
CA379462557 rs1244048050 |
272 | M>T | No |
ClinGen gnomAD |
|
|
rs774113906 CA5858192 |
273 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5858191 rs774113906 |
273 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5858190 rs774113906 |
273 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs986148727 CA217314361 |
276 | S>P | No |
ClinGen Ensembl |
|
|
rs1589940081 CA379462700 |
278 | Y>* | No |
ClinGen Ensembl |
|
|
rs149824696 CA5858194 |
278 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379462680 rs149824696 |
278 | Y>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754252138 CA5858195 |
280 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379462732 rs754252138 |
280 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379462772 rs1375080177 |
282 | H>R | No |
ClinGen gnomAD |
|
|
CA5858197 rs765781018 |
284 | G>D | No |
ClinGen ExAC |
|
|
rs1334974997 CA379462841 |
286 | N>D | No |
ClinGen gnomAD |
|
|
CA5858213 rs377702962 |
288 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776651238 CA5858215 |
289 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs530776032 CA379465246 |
290 | D>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA379465253 rs1215631435 |
290 | D>E | No |
ClinGen gnomAD |
|
|
CA5858216 rs530776032 |
290 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA379465280 rs1246703276 |
291 | Q>H | No |
ClinGen Ensembl |
|
|
rs1275582308 CA379465275 |
291 | Q>R | No |
ClinGen gnomAD |
|
|
CA217315646 rs1002721805 |
292 | S>G | No |
ClinGen Ensembl |
|
|
rs751035884 RCV001198754 |
293 | Q>H | No |
ClinVar dbSNP |
|
|
CA5858219 rs763522423 |
294 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA379465357 rs763522423 |
294 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs755535703 CA5858222 |
297 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA5858223 rs777483579 |
299 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA379465478 rs1241550995 |
300 | D>G | No |
ClinGen gnomAD |
|
|
rs753421650 CA5858224 |
301 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA379465489 rs1339432987 |
301 | M>V | No |
ClinGen TOPMed |
|
|
CA217315678 rs1021715262 |
302 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5858226 rs745859204 |
307 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA379465617 rs1436127091 |
308 | L>P | No |
ClinGen gnomAD |
|
|
CA379465651 rs1283676954 |
310 | T>I | No |
ClinGen TOPMed |
|
|
rs376990122 CA5858228 |
311 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 311 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768563368 CA5858230 |
314 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs148581987 CA5858231 |
314 | L>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs201508380 CA5858232 |
315 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203564359 CA379465725 |
316 | P>S | No |
ClinGen gnomAD |
|
|
rs1283799272 CA379465741 |
317 | R>* | No |
ClinGen gnomAD |
|
|
rs770233845 CA5858233 |
317 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5858234 rs773688505 |
318 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs763356453 CA5858235 |
319 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs912510389 CA379465780 |
320 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA379465777 rs912510389 |
320 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA217315738 rs1005857328 |
321 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1455327884 COSM1210624 CA379465827 |
323 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA217315747 rs754210751 |
326 | M>I | No |
ClinGen Ensembl |
|
|
rs1181885506 CA379465880 |
326 | M>V | No |
ClinGen TOPMed |
|
|
CA5858246 rs758123703 |
328 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA379465986 rs1327210641 |
329 | E>K | No |
ClinGen gnomAD |
|
|
rs1397320741 CA379466032 |
330 | D>G | No |
ClinGen gnomAD |
|
|
rs369264218 CA5858247 |
331 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA217315772 rs1046668378 |
334 | R>* | No |
ClinGen TOPMed |
|
|
rs566678782 CA5858248 COSM930785 |
334 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1455102074 CA379466130 |
335 | I>N | No |
ClinGen TOPMed |
|
|
rs374027960 CA5858249 |
340 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1233947021 CA379466286 |
341 | K>N | No |
ClinGen gnomAD |
|
|
CA5858250 rs781099551 |
341 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA379466345 rs1273794131 |
344 | F>C | No |
ClinGen gnomAD |
|
|
rs1358304642 CA379466348 |
344 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA379466384 rs1589941606 |
346 | C>* | No |
ClinGen Ensembl |
|
|
CA5858254 rs377094824 |
349 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749671754 CA379466444 |
350 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5858255 rs749671754 |
350 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs989434950 CA217315817 |
351 | Y>C | No |
ClinGen Ensembl |
|
|
rs1474632483 CA379466495 |
353 | P>S | No |
ClinGen gnomAD |
|
|
rs759931830 CA5858258 |
356 | V>A | No |
ClinGen ExAC TOPMed |
|
|
rs199558648 CA5858257 |
356 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs191096877 CA217315829 |
358 | P>T | No |
ClinGen 1000Genomes |
|
|
rs763712933 CA5858259 |
359 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA379466606 rs1243705654 |
359 | E>K | No |
ClinGen TOPMed |
|
|
rs142990615 CA5858283 |
362 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs865878764 CA217315944 |
364 | K>Q | No |
ClinGen gnomAD |
|
|
rs762559213 CA5858284 |
365 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1194575 rs1300901328 CA379466788 |
366 | E>K | lung Variant assessed as Somatic; 4.62e-05 impact. breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA379466851 rs751329555 |
368 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5858287 rs751329555 |
368 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759330457 CA5858288 |
371 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5858291 rs756318102 |
373 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA379467001 rs1454962994 CA379467005 |
375 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1394802490 CA379466976 |
375 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1394802490 CA379466979 |
375 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs758893127 CA217315961 |
377 | S>G | No |
ClinGen Ensembl |
|
|
rs777970676 CA5858293 |
379 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA379467104 rs1343648430 |
379 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5858296 rs779157270 |
384 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA379467240 rs1437142163 |
384 | E>D | No |
ClinGen gnomAD |
|
|
CA5858298 rs772427264 |
386 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780486336 CA5858299 |
387 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs747548824 CA5858300 |
388 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA217315990 rs989611359 |
390 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs966713977 CA217316001 |
393 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 396 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5858302 rs573043537 |
400 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762397629 CA5858303 |
403 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA379467818 rs1244639583 |
406 | L>S | No |
ClinGen TOPMed |
|
|
CA379467842 rs1427775328 |
408 | G>S | No |
ClinGen gnomAD |
|
|
rs1564850593 CA379467853 |
408 | G>V | No |
ClinGen Ensembl |
|
|
rs745314579 CA5858342 |
410 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778453343 CA5858341 |
410 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA379467916 rs1458470224 |
412 | T>S | No |
ClinGen gnomAD |
|
|
CA5858344 rs775217190 |
416 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA379467995 rs1361859236 |
417 | I>T | No |
ClinGen gnomAD |
|
|
CA379468042 rs1300196118 |
420 | H>R | No |
ClinGen gnomAD |
|
|
CA5858349 rs373728455 |
425 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379468198 rs1213733033 |
428 | C>Y | No |
ClinGen gnomAD |
|
|
CA379468213 rs1554900131 RCV000601675 |
429 | M>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs765285266 CA379468295 |
432 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1475010097 CA379468300 |
433 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 440 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379468395 rs1452306438 |
441 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA379468399 rs1452306438 |
441 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs141181875 CA5858352 |
442 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1425413558 CA379468424 |
443 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1191199055 CA379468416 |
443 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs766624785 CA5858353 |
444 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 448 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1323106962 CA379468500 |
449 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5858356 rs767862990 |
450 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA379468550 rs1169840219 |
453 | K>W | No |
ClinGen gnomAD |
|
|
CA379468555 rs1400986012 |
453 | K>Y | No |
ClinGen gnomAD |
No associated diseases with Q13418
5 regional properties for Q13418
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 193 - 446 | IPR000719 |
| domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 194 - 445 | IPR001245 |
| repeat | Ankyrin repeat | 6 - 65 | IPR002110-1 |
| repeat | Ankyrin repeat | 66 - 131 | IPR002110-2 |
| domain | Integrin-linked protein kinase, pseudokinase domain | 197 - 449 | IPR035692 |
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 | |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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). |
| lamellipodium | A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| sarcomere | The repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| 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. |
28 GO annotations of biological process
| Name | Definition |
|---|---|
| branching involved in ureteric bud morphogenesis | The process in which the branching structure of the ureteric bud is generated and organized. The ureteric bud is an epithelial tube that grows out from the metanephric duct. The bud elongates and branches to give rise to the ureter and kidney collecting tubules. |
| cell morphogenesis | The developmental process in which the size or shape of a cell is generated and organized. |
| cell projection organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon. |
| cell-matrix adhesion | The binding of a cell to the extracellular matrix via adhesion molecules. |
| establishment or maintenance of epithelial cell apical/basal polarity | Any cellular process that results in the specification, formation or maintenance of the apicobasal polarity of an epithelial cell. |
| fibroblast migration | Cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium. A fibroblast is a connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. |
| integrin-mediated signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to an integrin on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| myelination in peripheral nervous system | The process in which neuronal axons and dendrites become coated with a segmented lipid-rich sheath (myelin) to enable faster and more energetically efficient conduction of electrical impulses. The sheath is formed by the cell membranes of Schwann cells in the peripheral nervous system. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier. |
| negative regulation of neural precursor cell proliferation | Any process that stops, prevents, or reduces the frequency, rate or extent of neural precursor cell proliferation. |
| nerve development | The process whose specific outcome is the progression of a nerve over time, from its formation to the mature structure. |
| neural precursor cell proliferation | The multiplication or reproduction of neural precursor cells, resulting in the expansion of a cell population. A neural precursor cell is either a nervous system stem cell or a nervous system progenitor cell. |
| outflow tract morphogenesis | The process in which the anatomical structures of the outflow tract are generated and organized. The outflow tract is the portion of the heart through which blood flows into the arteries. |
| peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
| platelet aggregation | The adhesion of one platelet to one or more other platelets via adhesion molecules. |
| positive regulation of BMP signaling pathway | Any process that activates or increases the frequency, rate or extent of BMP signaling pathway activity. |
| positive regulation of canonical Wnt signaling pathway | Any process that increases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. |
| positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of NIK/NF-kappaB signaling | Any process that activates or increases the frequency, rate or extent of NIK/NF-kappaB signaling. |
| positive regulation of osteoblast differentiation | Any process that activates or increases the frequency, rate or extent of osteoblast differentiation. |
| positive regulation of phosphorylation | Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to a molecule. |
| positive regulation of protein phosphorylation | Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein. |
| positive regulation of signal transduction | Any process that activates or increases the frequency, rate or extent of signal transduction. |
| positive regulation of substrate adhesion-dependent cell spreading | Any process that activates or increases the frequency, rate or extent of substrate adhesion-dependent cell spreading. |
| protein kinase B signaling | A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| substrate adhesion-dependent cell spreading | The morphogenetic process that results in flattening of a cell as a consequence of its adhesion to a substrate. |
| tumor necrosis factor-mediated signaling pathway | The series of molecular signals initiated by tumor necrosis factor binding to its receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
15 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O43353 | RIPK2 | Receptor-interacting serine/threonine-protein kinase 2 | Homo sapiens (Human) | PR |
| Q02779 | MAP3K10 | Mitogen-activated protein kinase kinase kinase 10 | Homo sapiens (Human) | SS |
| P80192 | MAP3K9 | Mitogen-activated protein kinase kinase kinase 9 | Homo sapiens (Human) | SS |
| Q16584 | MAP3K11 | Mitogen-activated protein kinase kinase kinase 11 | Homo sapiens (Human) | EV |
| P04049 | RAF1 | RAF proto-oncogene serine/threonine-protein kinase | Homo sapiens (Human) | EV |
| P10398 | ARAF | Serine/threonine-protein kinase A-Raf | Homo sapiens (Human) | PR |
| P15056 | BRAF | Serine/threonine-protein kinase B-raf | Homo sapiens (Human) | EV |
| Q8NB16 | MLKL | Mixed lineage kinase domain-like protein | Homo sapiens (Human) | EV |
| O55222 | Ilk | Integrin-linked protein kinase | Mus musculus (Mouse) | PR |
| Q9TZC4 | pat-4 | Integrin-linked protein kinase homolog pat-4 | Caenorhabditis elegans | PR |
| O22558 | STY8 | Serine/threonine-protein kinase STY8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q2MHE4 | HT1 | Serine/threonine/tyrosine-protein kinase HT1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| F4JTP5 | STY46 | Serine/threonine-protein kinase STY46 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8RWL6 | STY17 | Serine/threonine-protein kinase STY17 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q05609 | CTR1 | Serine/threonine-protein kinase CTR1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDDIFTQCRE | GNAVAVRLWL | DNTENDLNQG | DDHGFSPLHW | ACREGRSAVV | EMLIMRGARI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NVMNRGDDTP | LHLAASHGHR | DIVQKLLQYK | ADINAVNEHG | NVPLHYACFW | GQDQVAEDLV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ANGALVSICN | KYGEMPVDKA | KAPLRELLRE | RAEKMGQNLN | RIPYKDTFWK | GTTRTRPRNG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TLNKHSGIDF | KQLNFLTKLN | ENHSGELWKG | RWQGNDIVVK | VLKVRDWSTR | KSRDFNEECP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RLRIFSHPNV | LPVLGACQSP | PAPHPTLITH | WMPYGSLYNV | LHEGTNFVVD | QSQAVKFALD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MARGMAFLHT | LEPLIPRHAL | NSRSVMIDED | MTARISMADV | KFSFQCPGRM | YAPAWVAPEA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LQKKPEDTNR | RSADMWSFAV | LLWELVTREV | PFADLSNMEI | GMKVALEGLR | PTIPPGISPH |
| 430 | 440 | 450 | |||
| VCKLMKICMN | EDPAKRPKFD | MIVPILEKMQ | DK |