P53667
Gene name |
LIMK1 (LIMK) |
Protein name |
LIM domain kinase 1 |
Names |
LIMK-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3984 |
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
477-514 (Activation loop from InterPro)
Target domain |
339-604 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure

Activated structure

11 structures for P53667
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
3S95 | X-ray | 165 A | A/B | 330-637 | PDB |
5HVJ | X-ray | 220 A | A/B | 329-638 | PDB |
5HVK | X-ray | 350 A | A/C | 329-638 | PDB |
5L6W | X-ray | 253 A | L | 330-637 | PDB |
5NXC | X-ray | 225 A | L | 330-637 | PDB |
6WLY | X-ray | 190 A | B | 503-512 | PDB |
7ATS | X-ray | 280 A | A | 330-637 | PDB |
7ATU | X-ray | 280 A | A/B/C/D | 330-637 | PDB |
7B8W | X-ray | 280 A | A/B/C/D | 330-637 | PDB |
8AAU | X-ray | 174 A | L | 330-637 | PDB |
AF-P53667-F1 | Predicted | AlphaFoldDB |
486 variants for P53667
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs178412 RCV000906489 VAR_050148 CA4294072 RCV002542089 |
580 | F>Y | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
CA367894667 rs868922973 |
2 | R>M | No |
ClinGen Ensembl |
|
rs1554693708 CA367894696 |
4 | T>M | No |
ClinGen gnomAD |
|
CA367894701 rs1343725917 |
5 | L>I | No |
ClinGen TOPMed gnomAD |
|
rs1343725917 CA367894702 |
5 | L>V | No |
ClinGen TOPMed gnomAD |
|
rs1554693711 CA367894755 |
9 | T>I | No |
ClinGen gnomAD |
|
CA367894772 rs1554693712 |
11 | R>G | No |
ClinGen gnomAD |
|
CA367894804 rs1554693713 |
13 | E>* | No |
ClinGen gnomAD |
|
CA367894806 rs1584101743 |
13 | E>G | No |
ClinGen Ensembl |
|
rs555610196 CA4293462 |
14 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA367894824 rs1554693715 |
15 | M>V | No |
ClinGen gnomAD |
|
rs1554693716 CA367894847 |
16 | G>* | No |
ClinGen gnomAD |
|
rs1554693718 CA367894881 |
18 | E>A | No |
ClinGen gnomAD |
|
rs1554693717 CA367894875 |
18 | E>K | No |
ClinGen gnomAD |
|
CA4293477 rs555639387 |
19 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1554693957 CA367894981 |
20 | S>C | No |
ClinGen gnomAD |
|
rs141152379 CA367894989 |
20 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4293480 rs146926126 |
21 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs146926126 CA4293479 |
21 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA367895031 rs1554693964 |
23 | P>L | No |
ClinGen gnomAD |
|
rs782637040 CA367895033 |
24 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782637040 CA4293482 |
24 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1480661844 CA367895040 |
25 | C>Y | No |
ClinGen TOPMed gnomAD |
|
rs116469048 CA160125270 |
27 | S>G | No |
ClinGen 1000Genomes gnomAD |
|
rs1554693968 CA367895062 |
28 | C>G | No |
ClinGen gnomAD |
|
CA367895063 rs1554693970 |
28 | C>Y | No |
ClinGen gnomAD |
|
rs1554693973 CA367895071 |
29 | G>D | No |
ClinGen gnomAD |
|
rs1376847977 CA367895068 |
29 | G>S | No |
ClinGen TOPMed gnomAD |
|
CA367895078 rs1554693977 |
30 | Q>R | No |
ClinGen gnomAD |
|
rs1429870088 CA367895084 |
31 | R>K | No |
ClinGen TOPMed |
|
rs782173029 CA4293486 |
32 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4293487 rs782428010 |
33 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA367895119 rs1203997992 |
34 | D>H | No |
ClinGen TOPMed |
|
CA367895118 rs1203997992 |
34 | D>N | No |
ClinGen TOPMed |
|
TCGA novel | 35 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1265595948 CA367895136 |
35 | G>D | No |
ClinGen TOPMed gnomAD |
|
rs1554693984 CA367895198 |
40 | A>T | No |
ClinGen gnomAD |
|
rs377360444 CA367895229 |
42 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1273382622 CA367895225 |
42 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA4293490 rs782368761 |
43 | A>T | No |
ClinGen ExAC gnomAD |
|
CA160125336 rs782670690 |
43 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs868938348 CA367895261 |
45 | W>* | No |
ClinGen Ensembl |
|
TCGA novel | 45 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA367895272 rs1554693989 |
46 | H>Y | No |
ClinGen gnomAD |
|
rs370710652 CA4293493 |
47 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1554693992 CA367895294 |
47 | A>V | No |
ClinGen gnomAD |
|
rs1584111849 CA367896082 |
52 | C>G | No |
ClinGen Ensembl |
|
rs1554695632 CA367896088 |
52 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA4293514 rs371668271 |
54 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4293513 rs782749523 |
54 | D>N | No |
ClinGen ExAC gnomAD |
|
CA4293515 rs782065106 |
56 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782699896 CA4293516 |
58 | S>C | No |
ClinGen ExAC gnomAD |
|
CA4293517 rs781901818 |
59 | L>M | No |
ClinGen ExAC gnomAD |
|
rs782653004 CA4293519 |
60 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA367896207 rs1554695644 |
63 | Y>C | No |
ClinGen gnomAD |
|
CA367896223 rs1463476839 |
64 | Y>* | No |
ClinGen TOPMed |
|
rs782484087 CA4293521 |
64 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA160134244 rs149064522 |
64 | Y>H | No |
ClinGen ESP gnomAD |
|
rs1373526740 CA367896235 |
65 | E>D | No |
ClinGen TOPMed |
|
CA367896243 rs143058870 |
66 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
RCV000962908 rs143058870 CA4293522 |
66 | K>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs782189161 CA4293523 |
67 | D>N | No |
ClinGen ExAC gnomAD |
|
rs782430641 CA4293524 |
68 | G>E | No |
ClinGen ExAC gnomAD |
|
CA367896316 rs1259335311 |
73 | K>Q | No |
ClinGen TOPMed |
|
CA575342101 rs1554695656 |
76 | Y>E | No |
ClinGen gnomAD |
|
rs1188295319 CA367896366 |
77 | W>R | No |
ClinGen TOPMed |
|
CA4293525 rs782664514 |
78 | A>V | No |
ClinGen ExAC gnomAD |
|
CA4293526 rs782260857 |
79 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367896387 rs1554695664 |
79 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA4293527 rs771756377 |
80 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367896419 rs1258024112 |
82 | E>G | No |
ClinGen TOPMed |
|
CA4293528 rs781972785 |
82 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4293529 rs782209879 |
83 | S>F | No |
ClinGen ExAC gnomAD |
|
CA367896432 rs782209879 |
83 | S>Y | No |
ClinGen ExAC gnomAD |
|
CA4293530 rs782323264 |
85 | H>L | No |
ClinGen ExAC gnomAD |
|
rs1554695671 CA367896471 |
86 | G>E | No |
ClinGen gnomAD |
|
CA4293531 rs781918060 |
86 | G>R | No |
ClinGen ExAC gnomAD |
|
CA4293533 rs782794386 |
91 | I>V | No |
ClinGen ExAC gnomAD |
|
rs201593102 CA160134337 |
94 | G>A | No |
ClinGen ExAC gnomAD |
|
CA4293534 rs201593102 |
94 | G>V | No |
ClinGen ExAC gnomAD |
|
rs993902658 CA160134340 |
96 | V>I | No |
ClinGen gnomAD |
|
rs1244254318 CA367896740 |
101 | E>G | No |
ClinGen TOPMed gnomAD |
|
CA367896807 rs1584112374 |
105 | H>P | No |
ClinGen Ensembl |
|
CA4293565 rs782280511 |
106 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4293567 rs782628948 |
107 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1554695768 CA367896872 |
109 | F>V | No |
ClinGen gnomAD |
|
CA367896898 rs1213229889 |
110 | I>M | No |
ClinGen TOPMed |
|
CA4293569 rs782338770 |
111 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367896929 rs1277922092 |
113 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
TCGA novel | 115 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA367896961 rs1365388063 |
116 | T>N | No |
ClinGen TOPMed gnomAD |
|
rs1271763707 CA367896977 |
117 | F>L | No |
ClinGen TOPMed |
|
CA367896995 rs1554695778 |
119 | G>S | No |
ClinGen gnomAD |
|
CA4293574 COSM3768477 rs782124445 |
121 | G>R | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA367897043 rs1554695784 |
123 | T>I | No |
ClinGen gnomAD |
|
rs782027176 CA4293576 |
125 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA160134632 rs782109718 |
127 | V>M | No |
ClinGen gnomAD |
|
CA367897086 rs1413317518 |
128 | E>G | No |
ClinGen TOPMed |
|
rs374366368 CA4293580 |
131 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs782739229 | 134 | C>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
rs781817349 CA4293600 |
135 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782062953 CA4293601 |
136 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1563915922 CA367897250 |
136 | H>Y | No |
ClinGen Ensembl |
|
CA4293602 rs782695636 |
140 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754506177 CA160135565 |
141 | T>I | No |
ClinGen Ensembl |
|
rs1278844912 CA367897313 |
141 | T>S | No |
ClinGen TOPMed gnomAD |
|
CA367897327 rs1554696091 |
142 | V>E | No |
ClinGen gnomAD |
|
CA367897343 rs1584114313 |
144 | T>P | No |
ClinGen Ensembl |
|
CA4293604 rs544200500 |
146 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
rs782622148 CA4293605 |
147 | I>* | No |
ClinGen ExAC |
|
rs782534356 CA4293606 |
148 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782534356 CA367897385 |
148 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782632231 CA4293607 |
149 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs1403948828 CA367897410 |
150 | I>V | No |
ClinGen TOPMed |
|
rs1554696101 CA367897466 |
155 | P>L | No |
ClinGen gnomAD |
|
CA367897483 rs965643252 |
157 | S>C | No |
ClinGen TOPMed |
|
rs965643252 CA160135604 |
157 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs202229741 CA4293610 |
157 | S>T | No |
ClinGen 1000Genomes ExAC |
|
CA367897493 rs1584114388 |
158 | H>P | No |
ClinGen Ensembl |
|
rs1554696110 CA367897517 |
160 | P>L | No |
ClinGen gnomAD |
|
CA367897519 rs1554696111 |
161 | H>N | No |
ClinGen gnomAD |
|
rs782185429 CA4293612 |
162 | T>I | No |
ClinGen ExAC gnomAD |
|
CA367897540 rs1407930830 |
163 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA367897551 rs1157290227 |
164 | T>A | No |
ClinGen TOPMed |
|
CA367897554 rs1157290227 |
164 | T>P | No |
ClinGen TOPMed |
|
CA160135626 rs921487642 |
172 | S>C | No |
ClinGen gnomAD |
|
CA367897635 rs921487642 |
172 | S>Y | No |
ClinGen gnomAD |
|
CA367897656 rs1554696125 |
174 | G>D | No |
ClinGen gnomAD |
|
rs1199051098 CA367897664 |
175 | K>M | No |
ClinGen TOPMed |
|
rs532992878 CA4293613 |
176 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA367897672 rs1554696132 |
176 | R>H | No |
ClinGen gnomAD |
|
rs1563916050 CA367897711 |
179 | S>* | No |
ClinGen Ensembl |
|
rs782257035 CA4293615 |
180 | V>A | No |
ClinGen ExAC gnomAD |
|
CA367897733 rs868909835 |
182 | I>L | No |
ClinGen gnomAD |
|
CA4293617 rs781960197 |
182 | I>T | No |
ClinGen ExAC gnomAD |
|
CA367897735 rs868909835 |
182 | I>V | No |
ClinGen gnomAD |
|
rs150491142 CA367897752 |
183 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs782321094 CA367897757 |
184 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367897759 rs781917913 |
184 | P>H | No |
ClinGen ExAC gnomAD |
|
rs781917913 CA4293620 |
184 | P>L | No |
ClinGen ExAC gnomAD |
|
rs782321094 CA4293619 |
184 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA160135660 rs908667284 |
185 | P>A | No |
ClinGen Ensembl |
|
CA4293623 rs782786185 |
185 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4293622 rs782786185 |
185 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs138470279 CA367897778 |
187 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs138470279 CA4293626 |
187 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs782453744 CA4293628 |
189 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367897799 rs782453744 |
189 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4293627 rs782453744 |
189 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4293630 rs35827364 VAR_042246 RCV000953556 |
190 | G>A | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA367897814 rs1430848982 |
191 | C>R | No |
ClinGen TOPMed |
|
rs1344030535 CA367897817 |
191 | C>Y | No |
ClinGen TOPMed |
|
rs782631807 CA4293631 |
192 | G>D | No |
ClinGen ExAC gnomAD |
|
rs782631807 CA367897834 |
192 | G>V | No |
ClinGen ExAC gnomAD |
|
rs782226834 CA4293632 |
193 | T>I | No |
ClinGen ExAC gnomAD |
|
CA4293634 rs782587891 |
194 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1430502129 CA367897858 |
195 | H>N | No |
ClinGen TOPMed |
|
rs1554696156 CA367897875 |
196 | S>L | No |
ClinGen gnomAD |
|
CA367897882 rs1554696158 |
197 | H>P | No |
ClinGen gnomAD |
|
rs1554696157 CA367897880 |
197 | H>Y | No |
ClinGen gnomAD |
|
rs1479639469 CA367897897 |
198 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs371341363 CA4293637 |
199 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs371341363 CA4293638 |
199 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs782366559 CA4293639 |
200 | R>C | No |
ClinGen ExAC gnomAD |
|
rs1240429597 CA367897909 |
200 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs782691662 CA4293642 |
201 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA367897926 rs782036877 |
202 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4293643 rs782036877 |
202 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4293644 rs149379462 |
203 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA367899441 rs1443022799 |
205 | D>H | No |
ClinGen TOPMed |
|
CA4293672 rs782476671 |
206 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA367899458 rs782476671 |
206 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1554697352 CA367899451 |
206 | P>T | No |
ClinGen gnomAD |
|
rs114966632 CA4293675 RCV000901627 |
207 | G>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs406970 CA160139826 |
207 | G>S | No |
ClinGen Ensembl |
|
CA4293677 CA4293676 rs182322108 |
209 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC gnomAD NCI-TCGA |
rs1554697366 CA367899482 |
209 | M>V | No |
ClinGen gnomAD |
|
TCGA novel | 210 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 212 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA367899566 rs1202379279 |
216 | S>Y | No |
ClinGen TOPMed gnomAD |
|
CA4293679 rs782623734 |
219 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs546124114 CA4293681 |
220 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA4293683 rs148676592 |
222 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4293682 rs781913408 |
222 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 223 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs782413398 CA4293684 |
229 | T>M | No |
ClinGen ExAC gnomAD |
|
CA367899708 rs1277225686 |
230 | P>T | No |
ClinGen TOPMed gnomAD |
|
rs537723113 CA4293686 |
232 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA4293688 rs781935606 |
236 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1362735412 CA367899791 |
238 | E>G | No |
ClinGen TOPMed gnomAD |
|
COSM3715779 rs782551009 CA4293691 |
238 | E>K | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs782551009 CA367899788 |
238 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367899860 rs1554697437 |
239 | I>V | No |
ClinGen gnomAD |
|
rs1584121162 CA367899884 |
240 | D>A | No |
ClinGen Ensembl |
|
rs1584121182 CA367899971 |
246 | T>P | No |
ClinGen Ensembl |
|
CA4293711 VAR_042247 rs55661242 |
247 | S>N | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
rs782432791 CA4293712 |
248 | R>C | No |
ClinGen ExAC gnomAD |
|
CA4293713 rs115921303 |
248 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1479393297 CA367900146 |
253 | T>I | No |
ClinGen TOPMed |
|
TCGA novel | 255 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1584121228 CA367900272 |
257 | D>A | No |
ClinGen Ensembl |
|
CA4293719 RCV000884438 rs114211869 |
259 | H>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs142288587 CA4293718 |
259 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA4293721 rs115350700 |
260 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA367900340 rs1320534765 |
260 | D>V | No |
ClinGen TOPMed |
|
CA4293722 rs782007788 |
261 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367900389 rs781945335 |
264 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4293725 rs781945335 |
264 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs369236766 CA4293727 |
265 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4293729 rs782143183 |
268 | P>S | No |
ClinGen ExAC gnomAD |
|
CA4293730 rs145280906 |
269 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs570895327 CA4293731 |
271 | S>T | No |
ClinGen 1000Genomes ExAC |
|
CA367900515 rs1425674200 |
272 | P>A | No |
ClinGen TOPMed |
|
rs1170965360 CA367900520 |
272 | P>L | No |
ClinGen TOPMed |
|
rs782088567 CA4293732 |
275 | S>C | No |
ClinGen ExAC gnomAD |
|
rs782716197 CA4293733 COSM3663310 |
276 | P>L | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA367900659 rs458683 |
280 | P>L | No |
ClinGen Ensembl |
|
rs782545777 CA4293735 |
281 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs140698496 CA367900704 CA4293737 |
282 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
rs200757294 CA4293738 |
284 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA367900766 rs1554697478 |
285 | G>S | No |
ClinGen gnomAD |
|
rs782210180 CA4293740 |
288 | A>V | No |
ClinGen ExAC gnomAD |
|
rs199717579 CA367900853 |
289 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA4293743 rs199717579 COSM3663311 |
289 | R>Q | liver Variant assessed as Somatic; 0.001068 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs191821726 CA4293741 |
289 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA160140232 rs61734439 |
290 | Q>* | No |
ClinGen Ensembl |
|
CA367900929 rs1306152187 |
293 | V>F | No |
ClinGen TOPMed |
|
CA367900922 rs1306152187 |
293 | V>I | No |
ClinGen TOPMed |
|
CA367901053 rs1215952699 |
294 | L>F | No |
ClinGen TOPMed |
|
CA367901111 rs1445944043 |
297 | C>R | No |
ClinGen TOPMed |
|
rs1281478205 CA367901166 |
299 | I>V | No |
ClinGen TOPMed |
|
CA367901191 rs1554697705 |
300 | D>N | No |
ClinGen gnomAD |
|
CA367901290 rs1554697711 |
305 | A>T | No |
ClinGen gnomAD |
|
rs1222058569 CA367901322 |
306 | G>S | No |
ClinGen TOPMed |
|
rs782376346 CA4293764 |
307 | S>L | No |
ClinGen ExAC gnomAD |
|
CA4293766 rs782606330 |
309 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782606330 CA367901389 |
309 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782606330 CA4293765 |
309 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4293767 rs782314596 |
311 | P>A | No |
ClinGen ExAC gnomAD |
|
rs782037598 CA367901410 |
311 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782037598 CA4293768 |
311 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1554697724 CA367901417 |
312 | A>T | No |
ClinGen gnomAD |
|
rs782281455 CA4293769 |
314 | Q>R | No |
ClinGen ExAC TOPMed |
|
CA4293770 rs782394584 |
315 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4293771 rs371905268 |
315 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs782394584 CA367901486 |
315 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4293773 rs782748955 |
316 | K>E | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 317 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs782046802 CA367901588 |
319 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782046802 CA4293775 |
319 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs145502526 CA4293776 |
320 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4293777 rs781884611 |
320 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs781884611 CA367901606 |
320 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs11541654 CA4293779 |
324 | L>F | No |
ClinGen ExAC gnomAD |
|
rs11541654 CA160140989 |
324 | L>I | No |
ClinGen ExAC gnomAD |
|
rs781836367 CA4293780 |
325 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782450849 CA4293782 |
325 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs782450849 CA4293781 |
325 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4293784 rs534233728 |
326 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA4293785 rs534233728 |
326 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 328 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs11541656 CA4293787 |
329 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs782256257 CA4293786 |
329 | R>W | No |
ClinGen ExAC gnomAD |
|
rs1554697769 CA367901789 |
330 | P>L | No |
ClinGen gnomAD |
|
CA367901814 rs1554697771 |
331 | H>Q | No |
ClinGen gnomAD |
|
CA160141024 rs935417701 |
332 | R>C | No |
ClinGen TOPMed |
|
rs781956388 CA4293788 |
332 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA367901862 rs1453431626 |
335 | R>W | No |
ClinGen TOPMed |
|
rs782187840 CA4293789 |
336 | P>A | No |
ClinGen ExAC gnomAD |
|
CA367901874 rs1406801488 |
336 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA4293792 rs782144000 |
337 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1170806551 CA367901945 |
340 | I>L | No |
ClinGen TOPMed |
|
CA367901984 CA4293796 rs782742428 |
342 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367902021 rs1584122549 |
344 | V>G | No |
ClinGen Ensembl |
|
CA367902042 rs868965338 |
345 | L>P | No |
ClinGen Ensembl |
|
rs1444693639 CA367902061 |
346 | G>C | No |
ClinGen TOPMed |
|
CA4293798 rs544952098 |
347 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1241933138 CA367902134 |
350 | F>L | No |
ClinGen TOPMed |
|
CA367902161 rs1554697799 |
351 | G>S | No |
ClinGen gnomAD |
|
rs1563920128 CA367902207 |
353 | A>V | No |
ClinGen Ensembl |
|
rs138393572 CA4293801 |
354 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs138393572 CA367902219 |
354 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA367902234 rs1554697805 |
355 | K>E | No |
ClinGen TOPMed |
|
rs11541655 CA4293818 |
359 | R>C | No |
ClinGen ExAC gnomAD |
|
rs11541655 CA160141662 |
359 | R>G | No |
ClinGen ExAC gnomAD |
|
CA367903365 rs1306498956 |
359 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs781847213 CA4293820 |
365 | M>I | No |
ClinGen ExAC gnomAD |
|
rs1554697904 CA367903502 |
365 | M>V | No |
ClinGen gnomAD |
|
CA4293821 rs782088817 |
369 | E>A | No |
ClinGen ExAC gnomAD |
|
rs782719556 CA4293822 |
370 | L>Q | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 371 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4293824 rs782560083 |
372 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs781786589 CA4293823 |
372 | R>W | No |
ClinGen ExAC gnomAD |
|
CA160141751 rs538666208 |
373 | F>L | No |
ClinGen 1000Genomes gnomAD |
|
rs1554697917 CA367903731 |
374 | D>N | No |
ClinGen gnomAD |
|
CA367903774 rs868955734 |
375 | E>* | No |
ClinGen TOPMed gnomAD |
|
rs553744740 CA4293825 |
375 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA160141754 rs868955734 |
375 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs1554697922 CA367903824 |
376 | E>D | No |
ClinGen gnomAD |
|
rs1554697925 CA367903873 |
378 | Q>L | No |
ClinGen gnomAD |
|
rs1160254494 CA367903893 |
379 | R>K | No |
ClinGen TOPMed gnomAD |
|
rs782494881 CA4293827 |
380 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA4293829 rs542387791 |
382 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA160141792 rs542387791 |
382 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1197545484 CA367904172 |
385 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs1554698112 CA367904220 |
387 | V>I | No |
ClinGen gnomAD |
|
CA367904239 rs1584124324 |
388 | M>T | No |
ClinGen Ensembl |
|
rs782158297 CA160142363 |
389 | R>* | No |
ClinGen TOPMed |
|
CA367904254 rs1270598913 |
389 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA367904419 rs1266560668 |
398 | K>R | No |
ClinGen TOPMed |
|
CA160142372 rs988565922 |
401 | G>R | No |
ClinGen Ensembl |
|
CA367904493 rs1554698125 CA367904496 |
402 | V>L | No |
ClinGen gnomAD |
|
CA367904510 rs1554698130 |
403 | L>I | No |
ClinGen gnomAD |
|
CA367904601 rs1554698132 |
407 | K>R | No |
ClinGen gnomAD |
|
CA367904663 rs1584124405 |
410 | N>D | No |
ClinGen Ensembl |
|
rs912962958 CA160142386 |
410 | N>T | No |
ClinGen TOPMed |
|
rs115876228 CA4293847 |
411 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs782245339 CA4293849 |
414 | E>D | No |
ClinGen ExAC gnomAD |
|
CA367904762 rs1322505866 |
416 | I>L | No |
ClinGen TOPMed gnomAD |
|
rs782617443 CA4293851 |
419 | G>S | No |
ClinGen ExAC gnomAD |
|
rs782196710 CA4293852 |
420 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs535891232 CA367904884 |
422 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA4293856 RCV000883510 VAR_042248 rs55679316 |
422 | R>Q | No |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA4293855 rs535891232 |
422 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA367905023 rs1554698157 |
428 | M>R | No |
ClinGen gnomAD |
|
rs1554698157 CA367905021 |
428 | M>T | No |
ClinGen gnomAD |
|
TCGA novel | 429 | D>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA367905328 rs1217077571 |
429 | D>E | No |
ClinGen TOPMed |
|
CA4293910 rs782672759 |
429 | D>G | No |
ClinGen ExAC gnomAD |
|
rs782453789 CA160144119 |
430 | S>R | No |
ClinGen TOPMed |
|
CA367905428 rs1554698653 |
435 | S>G | No |
ClinGen gnomAD |
|
CA367905438 rs1294080923 |
435 | S>N | No |
ClinGen TOPMed |
|
CA4293912 rs782500795 |
438 | V>L | No |
ClinGen ExAC gnomAD |
|
rs782500795 CA367905482 |
438 | V>M | No |
ClinGen ExAC gnomAD |
|
CA367905561 rs1244200610 |
442 | K>R | No |
ClinGen TOPMed gnomAD |
|
rs138833897 CA367905616 |
444 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs141412371 CA4293915 COSM3768478 |
445 | A>T | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1554698661 CA367905631 |
445 | A>V | No |
ClinGen gnomAD |
|
rs1554698662 CA367905656 |
447 | G>E | No |
ClinGen gnomAD |
|
rs782692265 CA4293916 |
448 | M>V | No |
ClinGen ExAC gnomAD |
|
CA367906374 rs1205824113 |
449 | A>D | No |
ClinGen TOPMed |
|
CA367906439 rs1554698718 |
454 | M>L | No |
ClinGen gnomAD |
|
CA4293946 rs782730435 |
456 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782730435 CA4293945 |
456 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367906487 rs879982456 |
457 | I>F | No |
ClinGen Ensembl |
|
TCGA novel | 460 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 462 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1584127436 CA367906562 |
462 | N>T | No |
ClinGen Ensembl |
|
CA4293949 rs377306326 |
464 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1554698725 CA367906644 |
468 | V>L | No |
ClinGen gnomAD |
|
rs368498172 CA4293950 |
469 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
CA4293951 rs371888844 |
469 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 472 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA367906939 rs1406748048 |
472 | K>R | No |
ClinGen TOPMed |
|
rs1414015235 CA367906949 |
473 | N>S | No |
ClinGen TOPMed |
|
CA367906971 rs1162149400 |
475 | V>L | No |
ClinGen TOPMed gnomAD |
|
rs1162149400 CA367906968 |
475 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs1254642834 CA367907001 |
478 | D>A | No |
ClinGen TOPMed |
|
rs1554699354 CA367907194 |
479 | F>V | No |
ClinGen TOPMed gnomAD |
|
rs782279860 CA4293979 |
482 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1224153517 CA367907218 |
483 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA367907219 rs1554699364 |
483 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs890832391 CA160146932 |
485 | M>I | No |
ClinGen TOPMed gnomAD |
|
CA367907241 rs1584131364 |
486 | V>G | No |
ClinGen Ensembl |
|
rs782634172 CA4293981 |
487 | D>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 488 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1554699365 CA367907270 |
490 | T>I | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 491 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs782337235 CA4293983 |
494 | G>S | No |
ClinGen ExAC gnomAD |
|
rs782048518 CA4293985 |
496 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4293984 rs781932129 |
496 | R>W | No |
ClinGen ExAC gnomAD |
|
rs1228947066 CA367907312 |
497 | S>R | No |
ClinGen TOPMed gnomAD |
|
rs1554699368 CA367907315 |
498 | L>V | No |
ClinGen gnomAD |
|
rs782412623 CA4293987 |
501 | P>S | No |
ClinGen ExAC gnomAD |
|
CA4293988 rs782015145 |
502 | D>N | No |
ClinGen ExAC gnomAD |
|
CA4293989 rs375815129 |
503 | R>G | No |
ClinGen ExAC gnomAD |
|
CA4293990 rs782777225 |
503 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA367907351 rs782777225 |
503 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1554699379 CA367907368 |
506 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1305991876 CA367907371 |
506 | R>H | No |
ClinGen TOPMed |
|
rs1438281606 CA367907375 |
507 | Y>H | No |
ClinGen TOPMed |
|
rs868944564 CA367907387 |
508 | T>I | No |
ClinGen Ensembl |
|
CA4293994 rs781907321 |
509 | V>M | No |
ClinGen ExAC gnomAD |
|
rs1554699389 CA367907410 |
512 | N>S | No |
ClinGen gnomAD |
|
CA367907436 rs1584131508 |
516 | M>L | No |
ClinGen Ensembl |
|
rs1554699390 CA367907455 |
518 | P>L | No |
ClinGen gnomAD |
|
CA4293997 rs201978986 |
522 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs200533853 CA4294018 |
524 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA4294019 rs782648759 |
524 | R>H | No |
ClinGen ExAC gnomAD |
|
rs1554700369 CA367885614 |
527 | D>V | No |
ClinGen gnomAD |
|
rs1402129678 CA367885703 |
529 | K>E | No |
ClinGen TOPMed |
|
CA367885718 rs1554700374 |
530 | V>M | No |
ClinGen gnomAD |
|
CA367885735 rs1408969044 |
531 | D>N | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 533 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA367885827 rs1554700379 |
535 | F>V | No |
ClinGen gnomAD |
|
rs1554700382 CA367885867 |
536 | G>E | No |
ClinGen gnomAD |
|
CA4294024 rs375588485 |
538 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs267601565 | 542 | I>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs782010371 CA4294050 |
544 | G>R | No |
ClinGen ExAC gnomAD |
|
rs782125431 CA4294051 |
545 | R>Q | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1554700431 CA367886198 |
545 | R>W | No |
ClinGen gnomAD |
|
CA367886226 rs1584136588 |
546 | V>G | No |
ClinGen Ensembl |
|
rs781963550 CA4294053 |
548 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367886274 rs781963550 |
548 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367886304 rs1261241056 |
549 | D>N | No |
ClinGen TOPMed |
|
TCGA novel | 549 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 550 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4294054 rs782083575 |
551 | D>H | No |
ClinGen ExAC gnomAD |
|
CA367886497 rs1554700440 |
555 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA367886504 rs1554700442 |
555 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1554700444 CA367886535 |
556 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
TCGA novel | 558 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1554700451 CA367886681 |
560 | G>D | No |
ClinGen gnomAD |
|
rs1554700454 CA367886704 |
562 | N>D | No |
ClinGen gnomAD |
|
rs1554700455 CA367886780 |
564 | R>Q | No |
ClinGen gnomAD |
|
TCGA novel | 565 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1284913943 CA367886878 |
568 | D>E | No |
ClinGen TOPMed |
|
rs1344462823 CA367886884 |
569 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA4294059 rs781858915 |
569 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367886918 rs1384981303 |
570 | Y>C | No |
ClinGen TOPMed |
|
CA367886914 rs1383423380 |
570 | Y>H | No |
ClinGen TOPMed |
|
CA4294060 rs782494434 |
572 | P>A | No |
ClinGen ExAC gnomAD |
|
rs782606961 CA4294062 |
573 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782432386 CA4294063 |
573 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367886999 rs782606961 |
573 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4294061 rs782606961 |
573 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4294064 rs782676279 |
574 | N>D | No |
ClinGen ExAC gnomAD |
|
rs782676279 CA4294065 |
574 | N>Y | No |
ClinGen ExAC gnomAD |
|
CA4294067 rs782390592 |
575 | C>W | No |
ClinGen ExAC gnomAD |
|
rs1408813162 CA367887068 |
576 | P>S | No |
ClinGen TOPMed |
|
CA4294070 rs782345155 |
577 | P>L | No |
ClinGen ExAC gnomAD |
|
CA4294071 rs782345155 |
577 | P>R | No |
ClinGen ExAC gnomAD |
|
CA4294069 rs147218553 |
577 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs781852315 | 578 | S>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs782403617 CA4294073 |
582 | I>T | No |
ClinGen ExAC gnomAD |
|
COSM3698536 rs782109144 CA4294075 |
584 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA4294076 rs142054083 |
585 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs781813342 CA4294077 |
585 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367887441 rs1264839604 |
588 | D>E | No |
ClinGen TOPMed gnomAD |
|
rs782061784 CA4294079 |
588 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4294078 rs782061784 |
588 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA367887428 rs782061784 |
588 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367887513 rs868921814 |
591 | P>L | No |
ClinGen Ensembl |
|
CA4294082 COSM3778569 rs782664768 |
592 | E>K | Variant assessed as Somatic; 4.961e-05 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
TCGA novel | 592 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4294084 rs782499090 |
593 | K>E | No |
ClinGen ExAC gnomAD |
|
rs376757046 CA4294109 |
597 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1316367646 CA367887828 |
601 | E>Q | No |
ClinGen TOPMed |
|
rs1584137084 CA367887968 |
605 | E>G | No |
ClinGen Ensembl |
|
CA367887994 rs1554700519 |
606 | T>P | No |
ClinGen Ensembl |
|
rs782027635 CA4294112 |
608 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782270979 CA4294113 |
608 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs370934853 CA4294114 RCV000785722 |
609 | M>I | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1331252829 CA367888055 |
609 | M>V | No |
ClinGen TOPMed gnomAD |
|
CA4294115 rs781975786 |
610 | H>P | No |
ClinGen ExAC gnomAD |
|
CA367888108 rs1554700529 |
611 | L>R | No |
ClinGen gnomAD |
|
rs782768305 CA4294120 |
613 | G>A | No |
ClinGen ExAC gnomAD |
|
rs782768305 CA160113566 |
613 | G>D | No |
ClinGen ExAC gnomAD |
|
rs368807700 CA4294119 |
613 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA4294122 rs200012525 |
614 | H>P | No |
ClinGen ExAC gnomAD |
|
CA4294121 rs781856172 |
614 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782726695 CA4294123 |
615 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367888179 rs1584137192 |
615 | L>R | No |
ClinGen Ensembl |
|
CA4294124 rs782726695 |
615 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1584137206 CA367888218 |
617 | L>P | No |
ClinGen Ensembl |
|
rs1554700545 CA367888229 |
618 | G>S | No |
ClinGen gnomAD |
|
CA4294127 rs371425358 |
622 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs782349496 CA4294131 |
625 | D>E | No |
ClinGen ExAC gnomAD |
|
rs782588250 CA4294132 |
631 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4294135 rs782002557 |
633 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4294134 rs782416703 |
633 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs140218235 CA4294136 |
634 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs782355007 CA4294137 |
634 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782707234 CA4294139 |
635 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782013377 CA160113656 |
636 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA367888737 rs376617300 |
638 | G>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4294142 rs376617300 |
638 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA367888741 rs1554700576 |
638 | G>V | No |
ClinGen gnomAD |
|
rs782776451 CA4294143 |
640 | P>A | No |
ClinGen ExAC gnomAD |
|
CA367888802 rs1554700581 |
641 | A>T | No |
ClinGen gnomAD |
|
rs1470397205 CA367888820 |
642 | H>Y | No |
ClinGen TOPMed gnomAD |
|
CA367888839 rs1554700585 |
643 | P>T | No |
ClinGen gnomAD |
|
rs782484475 CA4294145 |
645 | V>D | No |
ClinGen ExAC gnomAD |
|
CA367888919 rs1554700590 |
646 | P>L | No |
ClinGen gnomAD |
|
CA367888907 rs1554700589 |
646 | P>S | No |
ClinGen gnomAD |
|
rs781811762 CA4294147 |
647 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
1 associated diseases with P53667
Without disease ID
6 regional properties for P53667
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Protein kinase domain | 339 - 604 | IPR000719 |
domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 341 - 602 | IPR001245 |
domain | PDZ domain | 165 - 258 | IPR001478 |
domain | Zinc finger, LIM-type | 23 - 82 | IPR001781-1 |
domain | Zinc finger, LIM-type | 83 - 144 | IPR001781-2 |
binding_site | Protein kinase, ATP binding site | 345 - 368 | IPR017441 |
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 |
10 GO annotations of cellular component
Name | Definition |
---|---|
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
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. |
male germ cell nucleus | The nucleus of a male germ cell, a reproductive cell in males. |
membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
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. |
6 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
heat shock protein binding | Binding to a heat shock protein, a protein synthesized or activated in response to heat shock. |
metal ion binding | Binding to a metal ion. |
protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
12 GO annotations of biological process
Name | Definition |
---|---|
actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
axon extension | Long distance growth of a single axon process involved in cellular development. |
Fc-gamma receptor signaling pathway involved in phagocytosis | An Fc-gamma receptor signaling pathway that contributes to the endocytic engulfment of external particulate material by phagocytes. |
negative regulation of ubiquitin-protein transferase activity | Any process that stops, prevents, or reduces the frequency, rate or extent of ubiquitin transferase activity. |
nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
positive regulation of actin filament bundle assembly | Any process that activates or increases the frequency, rate or extent of the assembly of actin filament bundles. |
positive regulation of axon extension | Any process that activates or increases the frequency, rate or extent of axon extension. |
positive regulation of stress fiber assembly | Any process that activates or increases the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts. |
protein phosphorylation | The process of introducing a phosphate group on to a protein. |
Rho protein signal transduction | The series of molecular signals within the cell that are mediated by a member of the Rho family of proteins switching to a GTP-bound active state. |
signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
stress fiber assembly | The aggregation, arrangement and bonding together of a set of components to form a stress fiber. A stress fiber is a contractile actin filament bundle that consists of short actin filaments with alternating polarity. |
27 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q9Y616 | IRAK3 | Interleukin-1 receptor-associated kinase 3 | Homo sapiens (Human) | PR |
Q96S53 | TESK2 | Dual specificity testis-specific protein kinase 2 | Homo sapiens (Human) | PR |
P53671 | LIMK2 | LIM domain kinase 2 | Homo sapiens (Human) | PR |
Q8K4B2 | Irak3 | Interleukin-1 receptor-associated kinase 3 | Mus musculus (Mouse) | PR |
Q8CFA1 | Irak2 | Interleukin-1 receptor-associated kinase-like 2 | Mus musculus (Mouse) | PR |
O54785 | Limk2 | LIM domain kinase 2 | Mus musculus (Mouse) | PR |
Q8VCT9 | Tesk2 | Dual specificity testis-specific protein kinase 2 | Mus musculus (Mouse) | PR |
Q4QQS0 | Irak2 | Interleukin-1 receptor-associated kinase-like 2 | Rattus norvegicus (Rat) | PR |
Q924U5 | Tesk2 | Dual specificity testis-specific protein kinase 2 | Rattus norvegicus (Rat) | PR |
Q9ASQ5 | CRCK3 | Calmodulin-binding receptor-like cytoplasmic kinase 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q8LPS5 | SERK5 | Somatic embryogenesis receptor kinase 5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q8RWW0 | ALE2 | Receptor-like serine/threonine-protein kinase ALE2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
P93050 | BSH | Probable LRR receptor-like serine/threonine-protein kinase RKF3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9LRP3 | At3g17420 | Probable receptor-like protein kinase At3g17420 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9LSV3 | WAKL16 | Putative wall-associated receptor kinase-like 16 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9STF0 | LECRKS3 | Receptor like protein kinase S.3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9SCZ4 | FER | Receptor-like protein kinase FERONIA | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9M342 | WAKL15 | Wall-associated receptor kinase-like 15 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9LYN6 | At3g56050 | Probable inactive receptor-like protein kinase At3g56050 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q8VZJ9 | CRCK2 | Calmodulin-binding receptor-like cytoplasmic kinase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q0WNY5 | WAKL18 | Wall-associated receptor kinase-like 18 | Arabidopsis thaliana (Mouse-ear cress) | PR |
P43293 | PBL11 | Probable serine/threonine-protein kinase PBL11 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q94C25 | At5g20050 | Probable receptor-like protein kinase At5g20050 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9FLW0 | At5g24010 | Probable receptor-like protein kinase At5g24010 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q3E8W4 | ANX2 | Receptor-like protein kinase ANXUR2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9LTC0 | PBL19 | Probable serine/threonine-protein kinase PBL19 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9FIL7 | CRCK1 | Calmodulin-binding receptor-like cytoplasmic kinase 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MRLTLLCCTW | REERMGEEGS | ELPVCASCGQ | RIYDGQYLQA | LNADWHADCF | RCCDCSASLS |
70 | 80 | 90 | 100 | 110 | 120 |
HQYYEKDGQL | FCKKDYWARY | GESCHGCSEQ | ITKGLVMVAG | ELKYHPECFI | CLTCGTFIGD |
130 | 140 | 150 | 160 | 170 | 180 |
GDTYTLVEHS | KLYCGHCYYQ | TVVTPVIEQI | LPDSPGSHLP | HTVTLVSIPA | SSHGKRGLSV |
190 | 200 | 210 | 220 | 230 | 240 |
SIDPPHGPPG | CGTEHSHTVR | VQGVDPGCMS | PDVKNSIHVG | DRILEINGTP | IRNVPLDEID |
250 | 260 | 270 | 280 | 290 | 300 |
LLIQETSRLL | QLTLEHDPHD | TLGHGLGPET | SPLSSPAYTP | SGEAGSSARQ | KPVLRSCSID |
310 | 320 | 330 | 340 | 350 | 360 |
RSPGAGSLGS | PASQRKDLGR | SESLRVVCRP | HRIFRPSDLI | HGEVLGKGCF | GQAIKVTHRE |
370 | 380 | 390 | 400 | 410 | 420 |
TGEVMVMKEL | IRFDEETQRT | FLKEVKVMRC | LEHPNVLKFI | GVLYKDKRLN | FITEYIKGGT |
430 | 440 | 450 | 460 | 470 | 480 |
LRGIIKSMDS | QYPWSQRVSF | AKDIASGMAY | LHSMNIIHRD | LNSHNCLVRE | NKNVVVADFG |
490 | 500 | 510 | 520 | 530 | 540 |
LARLMVDEKT | QPEGLRSLKK | PDRKKRYTVV | GNPYWMAPEM | INGRSYDEKV | DVFSFGIVLC |
550 | 560 | 570 | 580 | 590 | 600 |
EIIGRVNADP | DYLPRTMDFG | LNVRGFLDRY | CPPNCPPSFF | PITVRCCDLD | PEKRPSFVKL |
610 | 620 | 630 | 640 | ||
EHWLETLRMH | LAGHLPLGPQ | LEQLDRGFWE | TYRRGESGLP | AHPEVPD |