Q8WWF8
PR
Gene name |
CAPSL |
Protein name |
Calcyphosin-like protein |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:133690 |
EC number |
|
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
1 structures for Q8WWF8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8WWF8-F1 | Predicted | AlphaFoldDB |
214 variants for Q8WWF8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA359434351 rs1479892478 |
2 | A>S | No |
ClinGen TOPMed |
|
|
CA116962868 rs951313134 |
2 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 4 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359434338 rs1386291133 |
4 | T>S | No |
ClinGen gnomAD |
|
|
CA3232491 rs375106222 |
5 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3232489 rs754628339 |
6 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs368551299 COSM1199553 COSM1199554 CA116962836 |
6 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs368551299 CA3232488 |
6 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368551299 CA116962830 |
6 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359434314 rs1446518072 |
8 | D>V | No |
ClinGen gnomAD |
|
|
COSM1486729 CA3232487 COSM449586 rs575446116 |
9 | R>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3232485 rs749872923 |
9 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749872923 CA3232486 |
9 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763465521 CA3232484 |
10 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3232483 rs763465521 |
10 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3232482 rs770162293 |
12 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3232481 rs770162293 |
12 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 14 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA116962788 rs1007061080 |
15 | A>V | No |
ClinGen TOPMed |
|
|
CA359434270 rs1429923074 |
16 | K>Q | No |
ClinGen gnomAD |
|
|
rs1451930776 CA359434258 |
17 | K>I | No |
ClinGen TOPMed |
|
|
rs1324242521 CA359434248 CA359434247 |
18 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1580889479 CA359434250 |
18 | K>R | No |
ClinGen Ensembl |
|
|
rs771201246 CA3232477 |
20 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359434238 rs1424955984 |
20 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs200635899 CA3232476 |
21 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA359434220 rs1422028680 |
23 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 24 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA116962767 rs17851540 |
24 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3232473 COSM352186 rs748089997 |
25 | P>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA359434209 rs1240477574 |
25 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs778624516 CA3232472 |
26 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244471124 CA359434206 |
26 | I>V | No |
ClinGen TOPMed |
|
|
CA3232470 rs377089913 |
30 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779689546 CA3232469 |
30 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3232466 rs767009111 |
32 | Q>H | No |
ClinGen ExAC |
|
|
CA359434167 rs1561440497 |
32 | Q>R | No |
ClinGen Ensembl |
|
|
rs202096708 CA359434161 |
33 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202096708 CA3232465 |
33 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs553073975 CA3232462 |
35 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1041461860 CA116962718 |
35 | A>S | No |
ClinGen Ensembl |
|
|
CA3232461 rs777068806 |
36 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1443911315 CA359434147 |
36 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 36 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3232458 rs773467327 |
37 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151068422 CA3232460 |
37 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773467327 CA3232459 |
37 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772171488 CA3232457 |
38 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3232455 rs774343844 |
41 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA116962647 rs991162863 |
42 | K>E | No |
ClinGen Ensembl |
|
|
rs768414245 CA3232454 |
43 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1189763306 CA359434105 |
43 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs749099220 CA3232453 |
44 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3232425 rs746541152 |
47 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359430505 rs1183992242 |
49 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1443735820 CA359430491 |
51 | M>T | No |
ClinGen gnomAD |
|
|
rs748659530 CA3232422 COSM1695592 COSM1695593 |
52 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 52 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748659530 CA3232423 |
52 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1150054 rs1188137226 CA359430477 COSM737969 |
53 | D>G | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs750689295 CA3232419 |
54 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1437182 CA3232420 rs575353255 COSM1067554 |
54 | D>N | Variant assessed as Somatic; 4.656e-05 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs575353255 CA359430471 |
54 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 56 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3232417 rs374400961 |
56 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA116954248 rs374400961 |
56 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3232413 rs202156612 COSM266185 |
57 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs202156612 CA3232414 |
57 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199837654 CA3232412 COSM274384 COSM1695591 |
57 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3232410 rs769642485 |
59 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3232408 rs201588644 |
60 | D>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1067553 CA3232409 rs759379022 COSM1595364 |
60 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3232407 rs114583055 |
61 | F>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746611359 CA3232406 |
63 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1367715056 CA359430405 |
63 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs111414827 CA116954093 |
64 | F>L | No |
ClinGen Ensembl |
|
|
rs539642491 CA3232404 |
65 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3232403 rs749878381 |
67 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756634622 CA3232401 |
70 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781376073 CA3232399 |
71 | Y>F | No |
ClinGen ExAC TOPMed |
|
|
rs200428487 CA3232397 |
72 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3232395 rs764212974 |
74 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359430124 rs764212974 |
74 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424175093 CA359430095 |
75 | M>I | No |
ClinGen TOPMed |
|
|
rs1431719578 CA359430045 CA359430046 |
77 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3232393 rs370102888 |
78 | E>Q | No |
ClinGen ESP ExAC TOPMed |
|
|
CA359430008 rs1230315504 |
79 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs765172267 CA3232391 |
80 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs890617341 CA116954050 |
80 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs759342773 CA3232390 |
84 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1445898 CA359429864 |
85 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3232388 VAR_029631 rs1445898 |
85 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs369979397 CA3232389 |
85 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 86 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760433308 CA3232387 |
86 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA3232386 rs772992939 |
88 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs904529862 CA116954016 |
89 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 89 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1580880284 CA359429746 |
90 | D>G | No |
ClinGen Ensembl |
|
|
rs1043050074 CA116954012 |
90 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs868067758 CA116954001 |
91 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA116953994 rs145854210 COSM108714 |
93 | G>E | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA116953990 rs1007193277 |
95 | I>K | No |
ClinGen gnomAD |
|
|
CA359429615 rs1007193277 |
95 | I>T | No |
ClinGen gnomAD |
|
|
rs201880660 CA3232382 |
98 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746325313 CA3232381 |
99 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs868106190 CA116953925 |
101 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3232352 rs753887158 |
106 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755007573 CA3232353 |
106 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3232349 rs750270903 |
109 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1452563390 CA359429318 |
111 | A>S | No |
ClinGen gnomAD |
|
|
rs539120636 CA3232347 |
112 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA359429305 rs1177182624 |
113 | K>R | No |
ClinGen gnomAD |
|
|
CA359429294 rs1446782041 |
114 | E>D | No |
ClinGen gnomAD |
|
|
CA359429281 rs1387077954 |
116 | I>T | No |
ClinGen gnomAD |
|
|
rs372118277 CA3232346 CA116953515 |
117 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359429270 rs1244297751 |
117 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1244297751 CA359429267 |
117 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA359429261 rs1422705433 |
118 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 118 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA116953514 rs1032701006 |
119 | A>T | No |
ClinGen TOPMed |
|
|
rs141951671 CA3232345 |
120 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 122 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3232342 rs367582490 |
124 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA116953483 rs1042031411 |
124 | D>N | No |
ClinGen Ensembl |
|
|
rs1561435726 CA359429163 |
125 | K>E | No |
ClinGen Ensembl |
|
|
CA359429159 rs1320230028 |
125 | K>R | No |
ClinGen TOPMed |
|
|
rs556735232 CA3232340 |
126 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA3232341 rs747475473 |
126 | T>S | No |
ClinGen ExAC |
|
|
rs1383174479 CA359429124 |
128 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 129 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1274477746 CA359429099 |
129 | G>V | No |
ClinGen TOPMed |
|
|
CA359429095 rs1283580779 |
130 | V>I | No |
ClinGen gnomAD |
|
|
CA3232339 rs772411532 |
131 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1327720594 CA359429072 |
132 | T>A | No |
ClinGen gnomAD |
|
|
CA3232338 rs536976217 |
132 | T>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3232337 rs545086008 |
133 | I>N | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA3232336 rs374502442 |
134 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs374502442 CA359429035 |
134 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3232335 rs749347216 |
135 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264485632 CA359428972 |
136 | L>F | No |
ClinGen TOPMed |
|
|
rs1447934806 CA359428968 |
136 | L>P | No |
ClinGen TOPMed |
|
|
rs756156534 COSM3429412 COSM3429413 CA3232333 |
137 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs201918474 CA3232331 |
137 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs201918474 CA3232332 |
137 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199973339 CA116953369 |
139 | V>A | No |
ClinGen 1000Genomes |
|
|
CA3232330 rs769359599 |
139 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3232329 rs751336015 |
140 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763669547 CA3232328 |
141 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA359428776 rs1261336427 |
144 | H>Y | No |
ClinGen gnomAD |
|
|
CA359428710 rs1359942792 |
146 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 147 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1174633919 CA359428670 |
148 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 149 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA116953278 rs905926313 |
151 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1270630150 CA359428535 |
153 | W>C | No |
ClinGen gnomAD |
|
| TCGA novel | 153 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1192584752 CA359428559 |
153 | W>R | No |
ClinGen gnomAD |
|
|
CA3232321 rs772500687 |
155 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs773704168 CA3232322 |
155 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA3232320 rs762178778 |
157 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA3232318 rs768790108 |
158 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA359428419 rs1350897248 |
158 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 158 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359428404 rs1403894666 |
159 | F>S | No |
ClinGen gnomAD |
|
|
rs1171953994 CA359428319 |
161 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 161 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs565886468 CA3232316 |
163 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 163 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs947920815 CA116953244 |
167 | D>Y | No |
ClinGen TOPMed |
|
|
rs1201952449 CA359428087 |
168 | S>A | No |
ClinGen gnomAD |
|
|
CA3232312 rs757206536 |
169 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs781283312 CA3232313 |
169 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273656565 CA359428003 |
170 | Y>C | No |
ClinGen gnomAD |
|
|
rs761357208 CA359427870 |
173 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA3232283 rs559681613 |
177 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199954393 CA3232284 |
177 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752089201 CA3232282 |
181 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1213634578 CA359426362 |
181 | F>L | No |
ClinGen TOPMed |
|
|
CA359426346 rs1482669010 |
182 | M>T | No |
ClinGen gnomAD |
|
|
CA3232281 rs764429047 |
184 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA359426310 rs1253739967 |
184 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA359426285 rs1403218154 |
185 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3232279 rs775662960 |
186 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA3232278 rs765581255 |
187 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs932074632 CA359426216 |
187 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs932074632 CA116949740 |
187 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA359426186 rs1189416458 |
188 | V>M | No |
ClinGen TOPMed |
|
|
rs1378620557 CA359426115 |
189 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 189 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM173907 CA3232274 rs568452046 |
190 | A>T | large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA116949695 rs548893725 |
191 | S>P | No |
ClinGen gnomAD |
|
|
rs142885809 CA3232273 |
192 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771846241 CA3232272 |
193 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA116949682 rs1006001957 |
194 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 195 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1386831632 CA359426013 |
195 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3232268 rs1025962055 |
196 | V>G | No |
ClinGen TOPMed |
|
|
CA3232270 rs201508660 |
196 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201508660 CA116949680 |
196 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3232267 rs754662737 |
197 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 197 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359425924 rs1187770718 |
198 | F>V | No |
ClinGen gnomAD |
|
|
CA3232265 rs112464695 |
199 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs185158721 CA359425795 CA3232262 |
201 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1345826 VAR_029632 CA3232263 RCV000969488 |
201 | M>V | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA359425778 rs1349402262 |
202 | M>L | No |
ClinGen TOPMed |
|
|
CA116949651 rs987980428 |
204 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA359425689 rs758785066 |
205 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758785066 COSM1067552 COSM1595365 CA3232260 |
205 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs145807569 CA3232259 |
206 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359425609 rs1297868951 |
207 | K>Q | No |
ClinGen gnomAD |
|
|
rs762037423 CA116949643 |
208 | L>P | No |
ClinGen Ensembl |
|
|
rs1367283613 CA359425572 |
208 | L>V | No |
ClinGen gnomAD |
No associated diseases with Q8WWF8
4 regional properties for Q8WWF8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | EF-hand domain | 39 - 110 | IPR002048-1 |
| domain | EF-hand domain | 111 - 188 | IPR002048-2 |
| binding_site | EF-Hand 1, calcium-binding site | 52 - 64 | IPR018247-1 |
| binding_site | EF-Hand 1, calcium-binding site | 88 - 100 | IPR018247-2 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
100 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A4IFM7 | MYLK2 | Myosin light chain kinase 2, skeletal/cardiac muscle | Bos taurus (Bovine) | SS |
| Q0V7M1 | PSKH1 | Serine/threonine-protein kinase H1 | Bos taurus (Bovine) | SS |
| Q0VD22 | STK33 | Serine/threonine-protein kinase 33 | Bos taurus (Bovine) | PR |
| Q96NX5 | CAMK1G | Calcium/calmodulin-dependent protein kinase type 1G | Homo sapiens (Human) | SS |
| O15075 | DCLK1 | Serine/threonine-protein kinase DCLK1 | Homo sapiens (Human) | EV |
| Q14012 | CAMK1 | Calcium/calmodulin-dependent protein kinase type 1 | Homo sapiens (Human) | EV |
| Q9UIK4 | DAPK2 | Death-associated protein kinase 2 | Homo sapiens (Human) | EV |
| O94768 | STK17B | Serine/threonine-protein kinase 17B | Homo sapiens (Human) | PR |
| Q86YV6 | MYLK4 | Myosin light chain kinase family member 4 | Homo sapiens (Human) | SS |
| Q16566 | CAMK4 | Calcium/calmodulin-dependent protein kinase type IV | Homo sapiens (Human) | SS |
| P11801 | PSKH1 | Serine/threonine-protein kinase H1 | Homo sapiens (Human) | SS |
| Q8N568 | DCLK2 | Serine/threonine-protein kinase DCLK2 | Homo sapiens (Human) | PR |
| Q9UEE5 | STK17A | Serine/threonine-protein kinase 17A | Homo sapiens (Human) | SS |
| O75962 | TRIO | Triple functional domain protein | Homo sapiens (Human) | EV |
| Q9H1R3 | MYLK2 | Myosin light chain kinase 2, skeletal/cardiac muscle | Homo sapiens (Human) | EV |
| Q32MK0 | MYLK3 | Myosin light chain kinase 3 | Homo sapiens (Human) | SS |
| P53355 | DAPK1 | Death-associated protein kinase 1 | Homo sapiens (Human) | EV |
| Q6P2M8 | PNCK | Calcium/calmodulin-dependent protein kinase type 1B | Homo sapiens (Human) | SS |
| Q9BYT3 | STK33 | Serine/threonine-protein kinase 33 | Homo sapiens (Human) | PR |
| Q8NCB2 | CAMKV | CaM kinase-like vesicle-associated protein | Homo sapiens (Human) | SS |
| O43293 | DAPK3 | Death-associated protein kinase 3 | Homo sapiens (Human) | PR |
| Q8IU85 | CAMK1D | Calcium/calmodulin-dependent protein kinase type 1D | Homo sapiens (Human) | SS |
| Q9QYK9 | Pnck | Calcium/calmodulin-dependent protein kinase type 1B | Mus musculus (Mouse) | PR |
| Q91VB2 | Camk1g | Calcium/calmodulin-dependent protein kinase type 1G | Mus musculus (Mouse) | SS |
| Q8BG48 | Stk17b | Serine/threonine-protein kinase 17B | Mus musculus (Mouse) | PR |
| Q8VCR8 | Mylk2 | Myosin light chain kinase 2, skeletal/cardiac muscle | Mus musculus (Mouse) | SS |
| Q6PGN3 | Dclk2 | Serine/threonine-protein kinase DCLK2 | Mus musculus (Mouse) | PR |
| Q91YS8 | Camk1 | Calcium/calmodulin-dependent protein kinase type 1 | Mus musculus (Mouse) | SS |
| Q3UIZ8 | Mylk3 | Myosin light chain kinase 3 | Mus musculus (Mouse) | SS |
| Q8VDF3 | Dapk2 | Death-associated protein kinase 2 | Mus musculus (Mouse) | EV |
| Q8BW96 | Camk1d | Calcium/calmodulin-dependent protein kinase type 1D | Mus musculus (Mouse) | SS |
| Q3UHL1 | Camkv | CaM kinase-like vesicle-associated protein | Mus musculus (Mouse) | SS |
| P08414 | Camk4 | Calcium/calmodulin-dependent protein kinase type IV | Mus musculus (Mouse) | SS |
| Q9JLM8 | Dclk1 | Serine/threonine-protein kinase DCLK1 | Mus musculus (Mouse) | SS |
| Q91YA2 | Pskh1 | Serine/threonine-protein kinase H1 | Mus musculus (Mouse) | SS |
| Q80YE7 | Dapk1 | Death-associated protein kinase 1 | Mus musculus (Mouse) | SS |
| Q62407 | Speg | Striated muscle-specific serine/threonine-protein kinase | Mus musculus (Mouse) | SS |
| Q0KL02 | Trio | Triple functional domain protein | Mus musculus (Mouse) | SS |
| Q924X7 | Stk33 | Serine/threonine-protein kinase 33 | Mus musculus (Mouse) | PR |
| O54784 | Dapk3 | Death-associated protein kinase 3 | Mus musculus (Mouse) | PR |
| Q6P8Y1 | Capsl | Calcyphosin-like protein | Mus musculus (Mouse) | PR |
| Q7TNJ7 | Camk1g | Calcium/calmodulin-dependent protein kinase type 1G | Rattus norvegicus (Rat) | SS |
| P20689 | Mylk2 | Myosin light chain kinase 2, skeletal/cardiac muscle | Rattus norvegicus (Rat) | SS |
| F1M0Z1 | Trio | Triple functional domain protein | Rattus norvegicus (Rat) | SS |
| Q91XS8 | Stk17b | Serine/threonine-protein kinase 17B | Rattus norvegicus (Rat) | PR |
| O08875 | Dclk1 | Serine/threonine-protein kinase DCLK1 | Rattus norvegicus (Rat) | PR |
| E9PT87 | Mylk3 | Myosin light chain kinase 3 | Rattus norvegicus (Rat) | SS |
| O70150 | Pnck | Calcium/calmodulin-dependent protein kinase type 1B | Rattus norvegicus (Rat) | PR |
| Q63092 | Camkv | CaM kinase-like vesicle-associated protein | Rattus norvegicus (Rat) | SS |
| Q63638 | Speg | Striated muscle-specific serine/threonine-protein kinase | Rattus norvegicus (Rat) | SS |
| O88764 | Dapk3 | Death-associated protein kinase 3 | Rattus norvegicus (Rat) | PR |
| P13234 | Camk4 | Calcium/calmodulin-dependent protein kinase type IV | Rattus norvegicus (Rat) | SS |
| Q63450 | Camk1 | Calcium/calmodulin-dependent protein kinase type 1 | Rattus norvegicus (Rat) | EV |
| P97924 | Kalrn | Kalirin | Rattus norvegicus (Rat) | SS |
| Q5MPA9 | Dclk2 | Serine/threonine-protein kinase DCLK2 | Rattus norvegicus (Rat) | PR |
| Q5VQQ5 | CPK2 | Calcium-dependent protein kinase 2 | Oryza sativa subsp. japonica (Rice) | SS |
| Q8LPZ7 | CPK3 | Calcium-dependent protein kinase 3 | Oryza sativa subsp. japonica (Rice) | SS |
| Q6K968 | CPK6 | Calcium-dependent protein kinase 6 | Oryza sativa subsp. japonica (Rice) | SS |
| P53684 | CPK7 | Calcium-dependent protein kinase 7 | Oryza sativa subsp japonica (Rice) | PR |
| Q75GE8 | CPK8 | Calcium-dependent protein kinase 8 | Oryza sativa subsp. japonica (Rice) | SS |
| Q6I5I8 | CPK16 | Calcium-dependent protein kinase 16 | Oryza sativa subsp. japonica (Rice) | SS |
| Q6AVM3 | CCAMK | Calcium and calcium/calmodulin-dependent serine/threonine-protein kinase | Oryza sativa subsp japonica (Rice) | PR |
| Q84SL0 | CPK20 | Calcium-dependent protein kinase 20 | Oryza sativa subsp. japonica (Rice) | SS |
| P53682 | CPK23 | Calcium-dependent protein kinase 23 | Oryza sativa subsp japonica (Rice) | PR |
| Q9TXJ0 | cmk-1 | Calcium/calmodulin-dependent protein kinase type 1 | Caenorhabditis elegans | PR |
| O44997 | dapk-1 | Death-associated protein kinase dapk-1 | Caenorhabditis elegans | SS |
| Q95QC4 | zyg-8 | Serine/threonine-protein kinase zyg-8 | Caenorhabditis elegans | PR |
| P28583 | Calcium-dependent protein kinase SK5 | Glycine max (Soybean) (Glycine hispida) | PR | |
| Q9M9V8 | CPK10 | Calcium-dependent protein kinase 10 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q39016 | CPK11 | Calcium-dependent protein kinase 11 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9FX86 | CRK8 | CDPK-related kinase 8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SSF8 | CPK30 | Calcium-dependent protein kinase 30 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38872 | CPK6 | Calcium-dependent protein kinase 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q7XJR9 | CPK16 | Calcium-dependent protein kinase 16 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SIQ7 | CPK24 | Calcium-dependent protein kinase 24 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SJ61 | CPK25 | Calcium-dependent protein kinase 25 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZV15 | CPK20 | Calcium-dependent protein kinase 20 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P93759 | GK-1 | Calcium-dependent protein kinase 14 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8S8S2 | LPEAT2 | Lysophospholipid acyltransferase LPEAT2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38870 | CPK2 | Calcium-dependent protein kinase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LJL9 | CRK2 | CDPK-related kinase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SG12 | CRK6 | CDPK-related kinase 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SCS2 | CRK5 | CDPK-related kinase 5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8W4I7 | CPK13 | Calcium-dependent protein kinase 13 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q6NLQ6 | CPK32 | Calcium-dependent protein kinase 32 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZSA4 | CPK27 | Calcium-dependent protein kinase 27 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38869 | CPK4 | Calcium-dependent protein kinase 4 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q42479 | CPK3 | Calcium-dependent protein kinase 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q1PE17 | CPK18 | Calcium-dependent protein kinase 18 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q06850 | CPK1 | Calcium-dependent protein kinase 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FMP5 | CPK17 | Calcium-dependent protein kinase 17 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38873 | CPK7 | Calcium-dependent protein kinase 7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q3E9C0 | CPK34 | Calcium-dependent protein kinase 34 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q42438 | CPK8 | Calcium-dependent protein kinase 8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q42396 | CPK12 | Calcium-dependent protein kinase 12 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9FKW4 | CPK28 | Calcium-dependent protein kinase 28 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9FYK2 | CML25 | Probable calcium-binding protein CML25 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q1LUA6 | trio | Triple functional domain protein | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| A8C984 | mylk3 | Myosin light chain kinase 3 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q7SY49 | camkv | CaM kinase-like vesicle-associated protein | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGTARHDRE | MAIQAKKKLT | TATDPIERLR | LQCLARGSAG | IKGLGRVFRI | MDDDNNRTLD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FKEFMKGLND | YAVVMEKEEV | EELFRRFDKD | GNGTIDFNEF | LLTLRPPMSR | ARKEVIMQAF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RKLDKTGDGV | ITIEDLREVY | NAKHHPKYQN | GEWSEEQVFR | KFLDNFDSPY | DKDGLVTPEE |
| 190 | 200 | ||||
| FMNYYAGVSA | SIDTDVYFII | MMRTAWKL |