Q04759
Gene name |
PRKCQ (PRKCT) |
Protein name |
Protein kinase C theta type |
Names |
nPKC-theta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5588 |
EC number |
2.7.11.13: Protein-serine/threonine kinases |
Protein Class |
|

Descriptions
(Annotation based on sequence homology with P31751)
Akt is a serine/threonine kinase that belongs to a group of proteins called the AGC superfamily. It is involved in various biological responses through the phosphatidylinositol 3-kinase (PI3K) signal transduction pathway. Akt2, in particular, is regulated by different regions of the protein.
The N-terminal PH domain of Akt2 plays a regulatory role in its activation. Phosphorylation of Ser474 in the C-terminal regulatory domain is also necessary for full activation of Akt2. These modifications help activate the kinase and enable it to carry out its functions.
The linker region between the N-lobe and C-lobe of Akt2 occupies the ATP binding site. Additionally, the activation loop within Akt2 aids in autoinhibition by blocking the binding of peptide substrates, while still allowing access to the ATP binding site.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
521-544 (Activation loop from InterPro)
Target domain |
374-704 (Catalytic domain of the Serine/Threonine Kinase, Novel Protein Kinase C theta) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure

Activated structure

9 structures for Q04759
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
1XJD | X-ray | 200 A | A | 362-706 | PDB |
2ENJ | NMR | - | A | 1-125 | PDB |
2ENN | NMR | - | A | 144-213 | PDB |
2ENZ | NMR | - | A | 227-284 | PDB |
2JED | X-ray | 232 A | A/B | 361-706 | PDB |
4Q9Z | X-ray | 260 A | A/B | 374-706 | PDB |
4RA5 | X-ray | 261 A | A/B | 374-706 | PDB |
5F9E | X-ray | 200 A | A/B | 361-706 | PDB |
AF-Q04759-F1 | Predicted | AlphaFoldDB |
468 variants for Q04759
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
RCV001784354 rs2236379 CA5399338 RCV001672927 VAR_020401 |
330 | P>L | Inflammatory bowel disease 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs753698547 COSM298775 CA5399737 |
2 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA375949404 rs1416797090 |
5 | L>V | No |
ClinGen TOPMed |
|
CA375949397 rs765069464 |
6 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5399735 rs765069464 |
6 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776799818 CA5399733 |
8 | G>S | No |
ClinGen ExAC gnomAD |
|
CA5399731 rs200607102 |
9 | L>F | No |
ClinGen ExAC gnomAD |
|
CA5399729 rs773718562 |
10 | S>F | No |
ClinGen ExAC gnomAD |
|
CA5399726 rs779203420 |
11 | N>H | No |
ClinGen ExAC |
|
rs780943457 CA5399723 |
11 | N>K | No |
ClinGen ExAC |
|
rs745547935 CA5399725 |
11 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs745547935 CA5399724 |
11 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5399727 rs779203420 |
11 | N>Y | No |
ClinGen ExAC |
|
CA5399722 rs756843093 |
12 | F>L | No |
ClinGen ExAC |
|
rs777420994 CA5399721 |
13 | D>N | No |
ClinGen ExAC gnomAD |
|
CA5399719 rs758327332 |
13 | D>V | No |
ClinGen ExAC |
|
rs777420994 CA5399720 |
13 | D>Y | No |
ClinGen ExAC gnomAD |
|
CA375949354 rs1588367872 |
14 | C>G | No |
ClinGen Ensembl |
|
CA375949353 rs1391203747 |
14 | C>Y | No |
ClinGen TOPMed |
|
rs764984890 CA5399717 |
15 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759332107 CA5399716 |
16 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1588367829 CA375949342 |
16 | S>P | No |
ClinGen Ensembl |
|
rs199974877 CA5399714 |
18 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs772179613 CA5399711 |
22 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1183410285 CA375949295 |
23 | E>K | No |
ClinGen Ensembl |
|
CA5399709 rs774882949 |
24 | A>V | No |
ClinGen ExAC gnomAD |
|
rs768925235 CA5399708 |
25 | V>I | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 26 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs749609338 CA375949272 |
26 | N>K | No |
ClinGen ExAC gnomAD |
|
rs145984477 CA5399705 |
27 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5399706 rs780998510 |
27 | P>S | No |
ClinGen ExAC gnomAD |
|
CA375949255 rs1248923790 |
29 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
TCGA novel | 30 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs372791078 CA5399704 COSM172484 |
33 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
CA375949232 rs372791078 |
33 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1219886212 CA375949206 |
36 | Y>F | No |
ClinGen gnomAD |
|
CA375949202 rs1343776061 |
37 | V>L | No |
ClinGen gnomAD |
|
CA5399702 rs757898311 |
38 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA375949129 rs1404486723 |
41 | N>I | No |
ClinGen gnomAD |
|
rs142437573 CA202353238 |
42 | G>E | No |
ClinGen ESP TOPMed gnomAD |
|
CA5399684 COSM919537 rs771500817 |
42 | G>R | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
TCGA novel | 43 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs749207936 CA5399680 |
44 | M>I | No |
ClinGen ExAC gnomAD |
|
rs754974344 CA5399682 |
44 | M>K | No |
ClinGen ExAC gnomAD |
|
rs754974344 CA5399681 |
44 | M>T | No |
ClinGen ExAC gnomAD |
|
CA5399683 rs184174186 |
44 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA375949092 rs1460840638 |
47 | Q>* | No |
ClinGen gnomAD |
|
CA5399679 rs779873274 |
47 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs1241311513 CA375949060 |
51 | T>I | No |
ClinGen TOPMed |
|
CA375949057 rs1210490127 |
52 | M>V | No |
ClinGen gnomAD |
|
CA5399678 rs755871696 |
53 | Y>H | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 54 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1588359967 CA375949010 |
58 | S>T | No |
ClinGen Ensembl |
|
CA375949001 rs1159540508 |
59 | T>I | No |
ClinGen TOPMed |
|
rs767720547 CA5399676 |
62 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5399675 rs757291117 |
62 | A>V | No |
ClinGen ExAC gnomAD |
|
rs369256272 CA5399674 |
63 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs534081531 CA5399673 |
64 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1381004365 CA375948966 |
65 | N>D | No |
ClinGen gnomAD |
|
rs139725254 CA5399672 |
65 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5399670 rs765731538 |
66 | K>R | No |
ClinGen ExAC gnomAD |
|
rs772748628 CA5399668 |
67 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5399667 rs17555072 |
68 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs773969132 CA5399665 |
69 | V>I | No |
ClinGen ExAC gnomAD |
|
CA375948928 rs1354679126 |
71 | Q>E | No |
ClinGen TOPMed gnomAD |
|
rs768130660 CA5399664 |
73 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1241024569 CA375948903 |
74 | V>A | No |
ClinGen gnomAD |
|
CA375948907 rs1564364274 |
74 | V>M | No |
ClinGen Ensembl |
|
rs148376969 COSM1348611 CA5399662 |
79 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 82 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA375948834 rs1245497985 |
84 | E>A | No |
ClinGen gnomAD |
|
rs1292836707 CA375948839 |
84 | E>K | No |
ClinGen gnomAD |
|
CA375948826 rs1357821968 |
85 | T>I | No |
ClinGen TOPMed gnomAD |
|
CA375948828 rs1357821968 |
85 | T>N | No |
ClinGen TOPMed gnomAD |
|
CA375948822 rs1383281841 |
86 | T>I | No |
ClinGen gnomAD |
|
CA5399659 rs780846102 COSM1505921 |
87 | V>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs751712216 CA5399657 |
91 | S>L | No |
ClinGen ExAC gnomAD |
|
CA375948765 rs1419388636 |
95 | R>T | No |
ClinGen gnomAD |
|
CA375948758 rs1423605655 |
96 | C>Y | No |
ClinGen gnomAD |
|
CA5399653 rs765778432 |
97 | R>G | No |
ClinGen ExAC gnomAD |
|
rs1429074138 CA375948751 |
97 | R>K | No |
ClinGen gnomAD |
|
rs1184682677 CA375948743 |
98 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA202353136 rs528924742 |
100 | N>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
COSM1581542 CA375948724 rs1269685233 |
101 | G>R | Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
CA375948722 rs1269685233 |
101 | G>W | No |
ClinGen TOPMed gnomAD |
|
CA375948718 rs1333645341 |
102 | K>* | No |
ClinGen TOPMed |
|
rs1440976611 CA375948692 |
105 | I>T | No |
ClinGen TOPMed |
|
rs759561071 CA5399626 |
108 | E>D | No |
ClinGen ExAC gnomAD |
|
CA202351197 rs868568165 |
108 | E>K | No |
ClinGen Ensembl |
|
CA5399624 rs201241305 |
112 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA202351196 rs769257651 |
113 | G>S | No |
ClinGen gnomAD |
|
rs746727874 CA5399623 |
114 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375948594 rs1213980245 |
118 | N>H | No |
ClinGen TOPMed |
|
CA5399621 rs772485480 |
124 | E>* | No |
ClinGen ExAC gnomAD |
|
CA202351185 rs772485480 |
124 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1175577319 CA375948534 |
126 | S>N | No |
ClinGen TOPMed gnomAD |
|
CA375948531 rs1479526470 |
126 | S>R | No |
ClinGen gnomAD |
|
CA202344678 rs956709828 |
129 | K>N | No |
ClinGen Ensembl |
|
COSM3790885 rs1032771016 CA202344666 |
131 | M>I | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA375948483 rs1445675231 |
131 | M>K | No |
ClinGen TOPMed gnomAD |
|
CA375948482 rs1445675231 |
131 | M>T | No |
ClinGen TOPMed gnomAD |
|
CA375948486 rs1165675851 |
131 | M>V | No |
ClinGen gnomAD |
|
CA375948476 rs1182289922 |
132 | N>T | No |
ClinGen gnomAD |
|
CA5399603 rs773196997 |
133 | E>D | No |
ClinGen ExAC gnomAD |
|
CA5399602 rs771967897 |
136 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5399601 rs374126448 |
136 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5399596 rs756637907 |
137 | E>D | No |
ClinGen ExAC gnomAD |
|
CA5399598 rs749268662 |
137 | E>G | No |
ClinGen ExAC gnomAD |
|
CA5399594 rs138291602 |
138 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM1289394 rs138291602 CA5399595 |
138 | G>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs757580090 CA5399593 |
139 | F>Y | No |
ClinGen ExAC gnomAD |
|
rs1259991075 CA375948416 |
141 | A>D | No |
ClinGen TOPMed |
|
rs1381766788 CA375948402 |
143 | H>R | No |
ClinGen gnomAD |
|
TCGA novel | 145 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1358682132 CA375948382 |
146 | R>Q | No |
ClinGen gnomAD |
|
CA375948329 COSM1702025 rs1385017538 |
154 | V>I | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs745983195 CA202344601 |
155 | H>L | No |
ClinGen Ensembl |
|
CA375948309 rs764743021 |
156 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs141631625 CA5399590 |
157 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1374184949 CA375948283 |
160 | H>R | No |
ClinGen gnomAD |
|
CA202344574 rs994508173 |
161 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs1445974399 CA375948269 |
162 | F>Y | No |
ClinGen gnomAD |
|
rs898130909 CA202344554 |
164 | A>V | No |
ClinGen TOPMed |
|
CA5399587 rs201313286 |
165 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 166 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs773250417 CA5399586 |
166 | F>V | No |
ClinGen ExAC gnomAD |
|
CA5399584 rs761650722 |
170 | P>T | No |
ClinGen ExAC gnomAD |
|
rs749514220 CA5399581 |
172 | F>S | No |
ClinGen ExAC gnomAD |
|
rs775482893 CA5399580 |
173 | C>S | No |
ClinGen ExAC gnomAD |
|
CA5399579 rs769836139 |
174 | S>A | No |
ClinGen ExAC gnomAD |
|
CA202344501 rs867507515 |
174 | S>F | No |
ClinGen Ensembl |
|
CA375948174 rs1405801380 |
177 | H>R | No |
ClinGen gnomAD |
|
CA5399578 rs377347109 |
177 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1229518732 CA375948109 |
184 | N>K | No |
ClinGen gnomAD |
|
rs1259615627 CA375948108 |
185 | K>Q | No |
ClinGen TOPMed |
|
TCGA novel | 187 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1233263552 CA375948075 |
189 | Q>P | No |
ClinGen gnomAD |
|
CA375948061 rs1180770712 |
191 | R>* | No |
ClinGen gnomAD |
|
COSM919534 rs766539586 CA5399551 |
191 | R>Q | Variant assessed as Somatic; 0.0 impact. oesophagus endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs541457804 CA5399550 |
192 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs367819694 CA375948040 |
192 | Q>H | No |
ClinGen ESP gnomAD |
|
rs370454392 CA5399528 |
194 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs370454392 CA5399527 |
194 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA375948020 rs1484539000 |
195 | A>V | No |
ClinGen TOPMed |
|
rs777706116 CA5399526 |
202 | I>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 205 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1251068516 CA375947942 |
206 | I>T | No |
ClinGen TOPMed |
|
CA5399524 rs752600368 |
208 | K>N | No |
ClinGen ExAC gnomAD |
|
CA375947915 rs1564352633 |
210 | T>R | No |
ClinGen Ensembl |
|
CA202343479 rs575581529 |
213 | A>T | No |
ClinGen Ensembl |
|
rs148789784 CA5399523 |
214 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
RCV000901655 rs148789784 CA5399522 |
214 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs766480416 CA5399520 |
215 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1193210284 CA375947876 |
216 | S>R | No |
ClinGen TOPMed gnomAD |
|
CA5399519 rs570087260 |
217 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA202343466 rs764498570 |
218 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA375947871 rs764498570 |
218 | E>Q | No |
ClinGen TOPMed gnomAD |
|
CA5399515 rs774904627 |
220 | M>I | No |
ClinGen ExAC gnomAD |
|
rs762222607 CA5399516 |
220 | M>K | No |
ClinGen ExAC gnomAD |
|
rs768002808 CA5399517 |
220 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375947834 rs1216299815 |
221 | F>L | No |
ClinGen gnomAD |
|
CA202339451 rs377699595 |
223 | K>R | No |
ClinGen gnomAD |
|
rs965460178 CA202339448 |
224 | E>D | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 226 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA375947772 rs1588755002 |
230 | M>V | No |
ClinGen Ensembl |
|
rs778777148 CA5399486 |
233 | R>K | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 234 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA375947729 rs1462457667 |
235 | K>N | No |
ClinGen gnomAD |
|
CA5399485 rs368962381 |
238 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5399484 rs749018547 |
238 | N>S | No |
ClinGen ExAC gnomAD |
|
VAR_042319 | 240 | K>N | a colorectal adenocarcinoma sample; somatic mutation [UniProt] | No | UniProt |
rs866057165 CA202339427 |
242 | P>L | No |
ClinGen gnomAD |
|
rs750588252 CA5399481 |
243 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752123243 CA5399478 |
248 | C>S | No |
ClinGen ExAC gnomAD |
|
rs752123243 CA5399479 |
248 | C>Y | No |
ClinGen ExAC gnomAD |
|
rs1206058542 CA375947602 |
254 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs780298249 CA202339390 |
257 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA5399475 rs753167345 |
257 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375947576 rs1308648752 |
259 | G>R | No |
ClinGen gnomAD |
|
CA5399473 rs760419315 |
260 | L>V | No |
ClinGen ExAC gnomAD |
|
CA5399472 rs772703616 |
261 | K>R | No |
ClinGen ExAC gnomAD |
|
rs761258469 CA5399471 |
263 | D>E | No |
ClinGen ExAC gnomAD |
|
rs774345124 CA5399404 |
264 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375947542 COSM1603631 rs1206612498 |
264 | A>S | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
rs774345124 CA5399403 |
264 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375947522 rs1157011799 |
265 | C>Y | No |
ClinGen gnomAD |
|
rs1157797350 CA375947509 |
267 | M>L | No |
ClinGen gnomAD |
|
rs780480963 CA5399400 |
268 | N>S | No |
ClinGen ExAC gnomAD |
|
CA5399398 rs374212849 |
274 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA375947448 rs1190085994 |
275 | T>K | No |
ClinGen gnomAD |
|
rs1235800938 CA375947437 |
277 | V>M | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 278 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1224372749 CA375947419 |
279 | N>K | No |
ClinGen TOPMed |
|
CA375947396 rs1263659786 |
283 | I>V | No |
ClinGen TOPMed |
|
CA375947375 rs1186987207 |
285 | Q>H | No |
ClinGen gnomAD |
|
rs778313820 CA5399394 |
288 | M>I | No |
ClinGen ExAC gnomAD |
|
CA375947351 rs1447344958 |
289 | A>S | No |
ClinGen gnomAD |
|
rs1214944610 CA375947347 |
290 | E>Q | No |
ClinGen gnomAD |
|
rs754458441 CA5399393 |
291 | A>T | No |
ClinGen ExAC gnomAD |
|
COSM919531 rs1314078902 CA375947335 |
291 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
CA375947310 rs1187548346 |
295 | I>T | No |
ClinGen TOPMed |
|
rs554753559 CA5399389 |
297 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA375947285 rs1360805189 |
299 | Q>E | No |
ClinGen gnomAD |
|
CA5399358 rs773449510 |
301 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773449510 CA375947258 |
301 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375947252 rs1386027044 |
302 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA375947251 rs549529749 |
302 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5399357 COSM1505923 rs549529749 |
302 | R>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs142220465 CA5399356 |
304 | L>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs745477282 CA202334378 |
305 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA202334377 VAR_042320 rs45590231 |
306 | D>V | No |
ClinGen UniProt Ensembl dbSNP |
|
CA202334374 rs995610012 |
307 | T>A | No |
ClinGen TOPMed gnomAD |
|
rs755647905 CA5399354 |
308 | E>G | No |
ClinGen ExAC gnomAD |
|
CA202334371 rs755647905 |
308 | E>V | No |
ClinGen ExAC gnomAD |
|
rs1374574402 CA375947199 |
310 | I>N | No |
ClinGen TOPMed gnomAD |
|
CA202334369 rs931424668 |
311 | F>L | No |
ClinGen TOPMed |
|
rs781126650 CA5399352 |
313 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757137773 CA5399351 |
314 | G>D | No |
ClinGen ExAC gnomAD |
|
CA5399350 rs751429071 |
315 | P>A | No |
ClinGen ExAC gnomAD |
|
COSM1348607 rs763773685 CA5399349 |
315 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA375947162 rs1457691905 |
316 | V>A | No |
ClinGen TOPMed gnomAD |
|
rs765321541 CA5399346 |
319 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs765321541 CA375947141 |
319 | G>V | No |
ClinGen ExAC gnomAD |
|
CA5399345 rs560199230 |
321 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA202334284 rs545042737 |
324 | I>N | No |
ClinGen 1000Genomes gnomAD |
|
CA375947112 rs545042737 |
324 | I>T | No |
ClinGen 1000Genomes gnomAD |
|
rs1231983640 CA375947114 |
324 | I>V | No |
ClinGen gnomAD |
|
rs182975279 CA5399343 COSM1581541 |
325 | K>E | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs761077817 CA5399342 |
325 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1370556219 CA375947098 |
326 | N>I | No |
ClinGen TOPMed |
|
CA5399341 rs773679117 |
328 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs562496905 CA5399339 |
329 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA375947073 rs2236379 |
330 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 331 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 332 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5399334 rs757268229 |
332 | C>S | No |
ClinGen ExAC gnomAD |
|
CA5399332 rs374983781 |
334 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs374983781 CA5399331 |
334 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5399329 rs139296268 |
336 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs139296268 CA375947038 |
336 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA375946997 rs1176859962 |
340 | E>D | No |
ClinGen TOPMed |
|
CA5399310 rs755280707 |
341 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs753980026 COSM919530 CA5399309 |
342 | Q>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA375946979 rs1455454011 |
343 | G>V | No |
ClinGen TOPMed |
|
CA5399308 rs780214821 |
344 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375946966 rs1325209740 |
345 | S>F | No |
ClinGen gnomAD |
|
CA202333359 rs765253976 |
347 | E>G | No |
ClinGen Ensembl |
|
CA375946938 rs1356922068 |
349 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA202333345 rs1046402059 |
353 | V>L | No |
ClinGen gnomAD |
|
rs1046402059 CA375946914 |
353 | V>M | No |
ClinGen gnomAD |
|
CA5399303 rs34524148 VAR_042321 |
354 | D>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5399304 rs34524148 |
354 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA375946902 rs1325106786 |
355 | K>E | No |
ClinGen TOPMed gnomAD |
|
CA5399302 rs764522089 |
356 | M>T | No |
ClinGen ExAC gnomAD |
|
CA5399300 COSM1581540 rs776094307 |
358 | H>Q | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs759262968 CA5399301 |
358 | H>R | No |
ClinGen ExAC gnomAD |
|
CA5399299 rs770483429 |
359 | L>V | No |
ClinGen ExAC gnomAD |
|
CA5399298 rs760035656 |
362 | P>L | No |
ClinGen ExAC gnomAD |
|
CA202333309 rs913483219 |
362 | P>S | No |
ClinGen Ensembl |
|
rs1171023942 CA375946835 |
365 | N>H | No |
ClinGen gnomAD |
|
rs1477279170 CA375946830 |
365 | N>K | No |
ClinGen gnomAD |
|
rs1588734082 CA375946828 |
366 | K>E | No |
ClinGen Ensembl |
|
CA5399295 rs748058127 |
369 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5399296 rs748058127 |
369 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778724245 CA5399294 |
370 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 370 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1259157309 CA375946782 |
373 | I>F | No |
ClinGen Ensembl |
|
rs768299758 CA5399293 |
374 | K>R | No |
ClinGen ExAC gnomAD |
|
rs1266603490 CA375946760 |
376 | K>I | No |
ClinGen gnomAD |
|
rs1564339088 CA375946755 |
377 | I>F | No |
ClinGen Ensembl |
|
CA375946753 rs1564339074 |
377 | I>T | No |
ClinGen Ensembl |
|
CA375946743 rs1211665940 |
378 | E>D | No |
ClinGen gnomAD |
|
rs1320172144 CA375946742 |
379 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA5399291 rs368444590 |
381 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA202333262 rs763344630 |
383 | H>Y | No |
ClinGen Ensembl |
|
rs1337736021 CA375946705 |
384 | K>E | No |
ClinGen gnomAD |
|
rs867694528 CA202333247 |
389 | G>E | No |
ClinGen gnomAD |
|
CA375946642 rs1449635080 |
392 | G>V | No |
ClinGen gnomAD |
|
CA375946619 rs1380861138 |
394 | V>F | No |
ClinGen gnomAD |
|
rs1231195584 CA375946576 |
400 | K>R | No |
ClinGen TOPMed |
|
CA375946557 rs1239272606 |
403 | N>H | No |
ClinGen gnomAD |
|
CA5399266 rs765615635 |
407 | A>S | No |
ClinGen ExAC gnomAD |
|
CA5399265 rs765615635 |
407 | A>T | No |
ClinGen ExAC gnomAD |
|
CA375946521 rs1219272209 |
408 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs367718623 CA5399262 |
410 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs367718623 CA5399263 |
410 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs367718623 CA5399264 |
410 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5399258 rs762935560 |
414 | D>E | No |
ClinGen ExAC gnomAD |
|
rs764007234 CA5399259 |
414 | D>Y | No |
ClinGen ExAC gnomAD |
|
CA375946469 rs775187977 |
416 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5399257 rs775187977 |
416 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5399256 rs769589253 |
418 | M>T | No |
ClinGen ExAC gnomAD |
|
rs1027093337 CA202330566 |
419 | D>N | No |
ClinGen Ensembl |
|
rs1411547658 CA375946442 |
420 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA5399254 rs776935962 |
423 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1284795984 CA375946390 |
427 | V>I | No |
ClinGen TOPMed |
|
TCGA novel | 428 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA202330525 rs995731822 |
430 | R>T | No |
ClinGen gnomAD |
|
CA5399252 rs747149352 |
431 | V>I | No |
ClinGen ExAC gnomAD |
|
rs1416105383 CA375946351 |
433 | S>T | No |
ClinGen gnomAD |
|
CA375946335 rs1347860152 |
435 | A>G | No |
ClinGen TOPMed |
|
CA375946317 rs1232357612 |
437 | E>D | No |
ClinGen gnomAD |
|
rs1370456190 CA375946313 |
438 | H>Y | No |
ClinGen gnomAD |
|
rs200951898 CA5399250 COSM1702022 |
439 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
COSM1474702 rs1274566995 CA375946286 |
442 | T>M | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
rs750090233 CA5399246 |
443 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200002531 CA5399244 |
445 | F>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA375946253 rs1228412155 |
446 | C>W | No |
ClinGen gnomAD |
|
rs756899614 CA5399243 |
448 | F>L | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 451 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1181715913 CA375946200 |
452 | E>G | No |
ClinGen gnomAD |
|
CA5399214 rs528116073 |
453 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 456 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1193617699 CA375946160 |
458 | M>L | No |
ClinGen gnomAD |
|
TCGA novel | 460 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1303121733 CA375946139 |
460 | Y>F | No |
ClinGen TOPMed |
|
CA375946126 rs1453085540 |
462 | N>S | No |
ClinGen gnomAD |
|
rs772062701 COSM1648732 CA5399211 |
463 | G>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA5399210 rs761886595 |
467 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA375946086 rs1250416943 |
468 | Y>H | No |
ClinGen gnomAD |
|
CA375946085 rs1588699652 |
468 | Y>S | No |
ClinGen Ensembl |
|
rs774410928 CA5399209 |
471 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA375946055 rs769210536 |
472 | S>N | No |
ClinGen ExAC gnomAD |
|
rs991691797 CA202354148 |
472 | S>R | No |
ClinGen Ensembl |
|
CA5399208 rs769210536 |
472 | S>T | No |
ClinGen ExAC gnomAD |
|
rs1233522348 CA375946040 |
474 | H>R | No |
ClinGen gnomAD |
|
CA202354143 rs532831191 |
475 | K>N | No |
ClinGen Ensembl |
|
rs1447619852 CA375946016 |
477 | D>E | No |
ClinGen gnomAD |
|
rs1311301421 CA375946018 |
477 | D>G | No |
ClinGen gnomAD |
|
CA202354123 rs761719124 |
477 | D>N | No |
ClinGen TOPMed |
|
rs1395862493 CA375946014 |
478 | L>I | No |
ClinGen gnomAD |
|
RCV000956804 rs78855257 CA5399206 |
479 | S>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5399205 rs770093970 |
481 | A>V | Variant assessed as Somatic; 0.0001387 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs777417433 CA5399203 |
482 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 482 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 483 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA202353011 rs1019445556 |
484 | Y>* | No |
ClinGen TOPMed |
|
CA375945963 rs1265033637 |
484 | Y>C | No |
ClinGen gnomAD |
|
rs1028061687 CA202353003 |
485 | A>S | No |
ClinGen Ensembl |
|
rs1349915375 CA375945923 |
490 | L>P | No |
ClinGen gnomAD |
|
CA375945926 rs1164833694 |
490 | L>V | No |
ClinGen TOPMed |
|
rs996537837 CA202352979 |
493 | Q>K | No |
ClinGen Ensembl |
|
rs1403981107 CA375945891 |
495 | L>P | No |
ClinGen TOPMed |
|
CA375945884 rs1588696631 |
496 | H>L | No |
ClinGen Ensembl |
|
CA375945805 rs1341062893 |
506 | K>R | No |
ClinGen TOPMed |
|
rs999423432 CA202349693 |
513 | D>H | No |
ClinGen TOPMed |
|
rs771157420 CA5399166 |
515 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747827626 CA5399165 |
516 | G>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 517 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs774213600 CA202349678 |
518 | I>M | No |
ClinGen Ensembl |
|
CA202349673 rs372724503 |
520 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
rs768290397 CA5399163 |
521 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748878631 CA5399162 |
521 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1484594358 CA375945665 |
526 | C>F | No |
ClinGen TOPMed |
|
TCGA novel | 530 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5399160 rs769820813 |
530 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769820813 CA375945637 |
530 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs889551636 CA202349647 |
533 | D>E | No |
ClinGen TOPMed gnomAD |
|
rs1443554970 CA375945608 |
534 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA5399157 rs756942026 |
536 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA5399155 rs758601583 |
537 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758601583 CA5399154 |
537 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375945581 rs1252250126 |
538 | T>I | No |
ClinGen gnomAD |
|
rs565602721 CA5399153 |
538 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1459100144 CA375945552 |
543 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1273978411 CA375945534 |
545 | Y>C | No |
ClinGen gnomAD |
|
rs754248268 CA5399150 |
547 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1343007540 | 550 | I>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5399125 rs769348033 |
550 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1158091325 CA375945011 |
552 | L>P | No |
ClinGen gnomAD |
|
rs759031814 CA5399124 |
554 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs200412009 CA5399123 |
555 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs770899454 CA5399122 |
558 | H>Y | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 560 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA375944909 rs1284118031 |
566 | G>V | No |
ClinGen gnomAD |
|
COSM1702021 CA5399117 rs778937392 |
569 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
TCGA novel | 570 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 572 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5399115 rs749386274 |
572 | M>V | No |
ClinGen ExAC gnomAD |
|
CA375944836 rs1447717917 |
577 | S>L | No |
ClinGen TOPMed |
|
rs756728777 CA5399112 |
580 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768018760 CA5399110 |
581 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 585 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 585 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA202339283 rs868518317 |
586 | E>K | No |
ClinGen Ensembl |
|
rs781756437 CA202339277 |
589 | H>Y | No |
ClinGen Ensembl |
|
rs1165990668 CA375944746 |
590 | S>F | No |
ClinGen gnomAD |
|
rs1345802773 CA375944748 |
590 | S>P | No |
ClinGen TOPMed |
|
rs368234215 CA5399108 |
591 | I>V | No |
ClinGen ESP ExAC |
|
rs764851728 CA202339267 |
592 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764851728 CA5399107 |
592 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5399106 COSM241254 rs759199634 |
592 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA375944735 rs759199634 |
592 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1441733311 CA375944732 |
593 | M>L | No |
ClinGen TOPMed |
|
CA202339265 rs376337967 |
593 | M>R | No |
ClinGen ESP TOPMed |
|
CA5399105 rs200988366 |
595 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 596 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5399102 rs755445679 |
599 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760627023 CA5399103 |
599 | P>S | No |
ClinGen ExAC gnomAD |
|
rs34663609 CA5399100 |
600 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5399101 COSM1222042 rs370703516 |
600 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs768808987 CA5399098 |
604 | K>M | No |
ClinGen ExAC gnomAD |
|
CA375944645 rs1290998199 |
606 | A>T | No |
ClinGen gnomAD |
|
rs749499954 CA5399097 |
607 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749499954 CA375944639 |
607 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1269588256 CA375944616 |
610 | L>R | No |
ClinGen gnomAD |
|
CA375944612 rs1040506959 CA202339217 |
611 | V>L | No |
ClinGen TOPMed gnomAD |
|
CA375943097 rs1355308902 |
613 | L>H | No |
ClinGen TOPMed |
|
rs768460854 CA5399080 |
614 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5399078 rs775800081 |
615 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs11258747 CA5399077 |
616 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs781395221 CA5399075 |
616 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA5399074 rs375864699 |
618 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5399073 rs747509835 |
620 | K>N | No |
ClinGen ExAC gnomAD |
|
rs199890234 CA5399072 |
624 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA375942976 rs1480774596 |
625 | R>K | No |
ClinGen gnomAD |
|
TCGA novel | 626 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA375942934 rs1231902533 COSM1348602 |
629 | R>C | Variant assessed as Somatic; 0.0 impact. liver large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA202332547 rs951226172 |
629 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA5399071 CA375942896 rs758729524 |
633 | L>F | No |
ClinGen ExAC gnomAD |
|
CA375942885 rs147040074 |
635 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5399069 rs147040074 |
635 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs753492294 CA5399070 COSM297616 |
635 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs961196644 CA202332520 |
641 | E>K | No |
ClinGen TOPMed |
|
rs1035888608 CA202332516 |
643 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs761691219 CA5399065 COSM3382949 |
644 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs201623843 CA375942823 |
644 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 645 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1296599323 CA375942816 |
645 | K>R | No |
ClinGen gnomAD |
|
rs1376433443 CA375942810 |
646 | E>A | No |
ClinGen gnomAD |
|
rs751468198 CA5399064 |
646 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs763811294 CA5399063 |
647 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1588642159 CA375942796 |
648 | D>A | No |
ClinGen Ensembl |
|
rs142951028 CA5399061 |
649 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs142951028 CA5399060 |
649 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs759796771 CA5399059 |
650 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200308654 CA375942771 |
652 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200308654 CA5399055 |
652 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375942773 rs1179560313 |
652 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA375942768 rs1206409418 |
653 | P>S | No |
ClinGen gnomAD |
|
rs748571161 CA5399053 |
655 | V>M | No |
ClinGen ExAC gnomAD |
|
rs758437355 CA5399022 |
660 | D>E | No |
ClinGen ExAC gnomAD |
|
CA5399020 rs765137067 |
665 | D>N | No |
ClinGen ExAC gnomAD |
|
rs1374561756 CA375942406 |
667 | E>* | No |
ClinGen gnomAD |
|
CA375942382 rs1460936242 |
669 | L>V | No |
ClinGen TOPMed |
|
rs1017468413 CA202331051 COSM1287392 |
672 | K>N | autonomic_ganglia Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
rs759922021 COSM179491 CA5399018 |
674 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
COSM1263086 rs1174580914 CA375942343 |
674 | R>W | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA5399016 rs760787127 |
678 | A>T | No |
ClinGen ExAC gnomAD |
|
CA5399014 rs143285381 |
679 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5399013 rs762330463 |
679 | D>V | No |
ClinGen ExAC gnomAD |
|
rs774786292 CA5399012 |
680 | R>I | No |
ClinGen ExAC gnomAD |
|
CA202330985 rs1004993573 |
683 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs1588637874 CA375942229 |
686 | M>V | No |
ClinGen Ensembl |
|
rs1390013588 CA375942190 |
689 | N>D | No |
ClinGen TOPMed |
|
rs749731877 CA5399009 |
690 | M>K | No |
ClinGen ExAC gnomAD |
|
rs200838412 CA5399008 |
692 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA375942148 rs200838412 |
692 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs746598943 CA5399006 |
697 | M>I | No |
ClinGen ExAC gnomAD |
|
rs763293223 CA202330939 |
698 | N>K | No |
ClinGen gnomAD |
|
CA375942070 rs1406928982 |
698 | N>S | No |
ClinGen TOPMed |
|
CA5399003 rs748100103 |
700 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1461248434 CA375942046 |
700 | G>V | No |
ClinGen gnomAD |
|
CA5399004 rs748100103 |
700 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM3931094 CA375942030 rs1388250720 |
702 | E>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs753716547 CA5399000 |
703 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5399001 rs375649181 |
703 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs760521941 CA202330908 |
706 | S>Y | No |
ClinGen Ensembl |
No associated diseases with Q04759
13 regional properties for Q04759
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | C2 domain | 1 - 107 | IPR000008 |
domain | Protein kinase domain | 380 - 634 | IPR000719 |
domain | AGC-kinase, C-terminal | 635 - 706 | IPR000961 |
domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | 159 - 210 | IPR002219-1 |
domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | 231 - 283 | IPR002219-2 |
active_site | Serine/threonine-protein kinase, active site | 500 - 512 | IPR008271 |
binding_site | Protein kinase, ATP binding site | 386 - 409 | IPR017441 |
domain | Protein kinase, C-terminal | 655 - 696 | IPR017892 |
domain | Diacylglycerol/phorbol-ester binding | 157 - 171 | IPR020454-1 |
domain | Diacylglycerol/phorbol-ester binding | 245 - 254 | IPR020454-2 |
domain | Diacylglycerol/phorbol-ester binding | 258 - 269 | IPR020454-3 |
domain | Diacylglycerol/phorbol-ester binding | 270 - 282 | IPR020454-4 |
domain | Novel protein kinase C theta, catalytic domain | 374 - 704 | IPR034668 |
Functions
Description | ||
---|---|---|
EC Number | 2.7.11.13 | Protein-serine/threonine kinases |
Subcellular Localization |
|
|
PANTHER Family | ||
PANTHER Subfamily | ||
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
5 GO annotations of cellular component
Name | Definition |
---|---|
aggresome | An inclusion body formed by dynein-dependent retrograde transport of an aggregated protein on microtubules. |
centriolar satellite | A small (70-100 nm) cytoplasmic granule that contains a number of centrosomal proteins; centriolar satellites traffic toward microtubule minus ends and are enriched near the centrosome. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
immunological synapse | An area of close contact between a lymphocyte (T-, B-, or natural killer cell) and a target cell formed through the clustering of particular signaling and adhesion molecules and their associated membrane rafts on both the lymphocyte and the target cell and facilitating activation of the lymphocyte, transfer of membrane from the target cell to the lymphocyte, and in some situations killing of the target cell through release of secretory granules and/or death-pathway ligand-receptor interaction. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
7 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
calcium-dependent protein kinase C activity | Calcium-dependent catalysis of the reaction: ATP + a protein = ADP + a phosphoprotein. |
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 kinase C activity | Catalysis of the reaction: ATP + a protein = ADP + a phosphoprotein. This reaction requires diacylglycerol. |
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. |
25 GO annotations of biological process
Name | Definition |
---|---|
axon guidance | The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues. |
CD4-positive, alpha-beta T cell proliferation | The expansion of a CD4-positive, alpha-beta T cell population by cell division. |
cell chemotaxis | The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). |
Fc-epsilon receptor signaling pathway | The series of molecular signals initiated by the binding of the Fc portion of immunoglobulin E (IgE) to an Fc-epsilon receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. The Fc portion of an immunoglobulin is its C-terminal constant region. |
inflammatory response | The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
membrane protein ectodomain proteolysis | The proteolytic cleavage of transmembrane proteins and release of their ectodomain (extracellular domain). |
negative regulation of insulin receptor signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of insulin receptor signaling. |
negative regulation of T cell apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of T cell death by apoptotic process. |
peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
positive regulation of CD4-positive, alpha-beta T cell proliferation | Any process that activates or increases the frequency, rate or extent of CD4-positive, alpha-beta T cell proliferation. |
positive regulation of interleukin-17 production | Any process that activates or increases the frequency, rate, or extent of production of any member of the interleukin-17 family of cytokines. |
positive regulation of interleukin-2 production | Any process that activates or increases the frequency, rate, or extent of interleukin-2 production. |
positive regulation of interleukin-4 production | Any process that activates or increases the frequency, rate, or extent of interleukin-4 production. |
positive regulation of NF-kappaB transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB. |
positive regulation of T cell activation | Any process that activates or increases the frequency, rate or extent of T cell activation. |
positive regulation of T-helper 17 type immune response | Any process that activates or increases the frequency, rate or extent of T-helper 17 type immune response. |
positive regulation of T-helper 2 cell activation | Any process that activates or increases the frequency, rate or extent of T-helper 2 cell activation. |
positive regulation of telomerase activity | Any process that activates or increases the frequency, rate or extent of telomerase activity, the catalysis of the reaction: deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1). |
positive regulation of telomere capping | Any process that activates or increases the frequency, rate or extent of telomere capping. |
positive regulation of telomere maintenance via telomerase | Any process that activates or increases the frequency, rate or extent of the addition of telomeric repeats by telomerase. |
protein phosphorylation | The process of introducing a phosphate group on to a protein. |
regulation of cell growth | Any process that modulates the frequency, rate, extent or direction of cell growth. |
regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
regulation of platelet aggregation | Any process that modulates the rate, frequency or extent of platelet aggregation. Platelet aggregation is the adhesion of one platelet to one or more other platelets via adhesion molecules. |
41 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
P24583 | PKC1 | Protein kinase C-like 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | SS |
A1A4I4 | PKN1 | Serine/threonine-protein kinase N1 | Bos taurus (Bovine) | SS |
A1Z7T0 | Pkn | Serine/threonine-protein kinase N | Drosophila melanogaster (Fruit fly) | SS |
P83099 | Pkcdelta | Putative protein kinase C delta type homolog | Drosophila melanogaster (Fruit fly) | PR |
Q96LW2 | RSKR | Ribosomal protein S6 kinase-related protein | Homo sapiens (Human) | PR |
O15530 | PDPK1 | 3-phosphoinositide-dependent protein kinase 1 | Homo sapiens (Human) | EV |
Q05513 | PRKCZ | Protein kinase C zeta type | Homo sapiens (Human) | SS |
P41743 | PRKCI | Protein kinase C iota type | Homo sapiens (Human) | EV |
Q16512 | PKN1 | Serine/threonine-protein kinase N1 | Homo sapiens (Human) | EV |
Q6P5Z2 | PKN3 | Serine/threonine-protein kinase N3 | Homo sapiens (Human) | SS |
Q16513 | PKN2 | Serine/threonine-protein kinase N2 | Homo sapiens (Human) | EV |
P24723 | PRKCH | Protein kinase C eta type | Homo sapiens (Human) | SS |
Q02156 | PRKCE | Protein kinase C epsilon type | Homo sapiens (Human) | SS |
Q05655 | PRKCD | Protein kinase C delta type | Homo sapiens (Human) | SS |
P17252 | PRKCA | Protein kinase C alpha type | Homo sapiens (Human) | EV |
P05129 | PRKCG | Protein kinase C gamma type | Homo sapiens (Human) | SS |
P05771 | PRKCB | Protein kinase C beta type | Homo sapiens (Human) | SS |
P31751 | AKT2 | RAC-beta serine/threonine-protein kinase | Homo sapiens (Human) | EV SS |
P31749 | AKT1 | RAC-alpha serine/threonine-protein kinase | Homo sapiens (Human) | EV |
Q9Y243 | AKT3 | RAC-gamma serine/threonine-protein kinase | Homo sapiens (Human) | SS |
Q96BR1 | SGK3 | Serine/threonine-protein kinase Sgk3 | Homo sapiens (Human) | SS |
Q9HBY8 | SGK2 | Serine/threonine-protein kinase Sgk2 | Homo sapiens (Human) | SS |
O00141 | SGK1 | Serine/threonine-protein kinase Sgk1 | Homo sapiens (Human) | PR |
Q15208 | STK38 | Serine/threonine-protein kinase 38 | Homo sapiens (Human) | EV |
Q9Y2H1 | STK38L | Serine/threonine-protein kinase 38-like | Homo sapiens (Human) | EV |
Q6A1A2 | PDPK2P | Putative 3-phosphoinositide-dependent protein kinase 2 | Homo sapiens (Human) | PR |
P70268 | Pkn1 | Serine/threonine-protein kinase N1 | Mus musculus (Mouse) | SS |
P23298 | Prkch | Protein kinase C eta type | Mus musculus (Mouse) | PR |
Q8BWW9 | Pkn2 | Serine/threonine-protein kinase N2 | Mus musculus (Mouse) | SS |
Q8K045 | Pkn3 | Serine/threonine-protein kinase N3 | Mus musculus (Mouse) | SS |
P16054 | Prkce | Protein kinase C epsilon type | Mus musculus (Mouse) | PR |
P28867 | Prkcd | Protein kinase C delta type | Mus musculus (Mouse) | PR |
Q02111 | Prkcq | Protein kinase C theta type | Mus musculus (Mouse) | PR |
Q63433 | Pkn1 | Serine/threonine-protein kinase N1 | Rattus norvegicus (Rat) | SS |
Q64617 | Prkch | Protein kinase C eta type | Rattus norvegicus (Rat) | PR |
P09216 | Prkce | Protein kinase C epsilon type | Rattus norvegicus (Rat) | PR |
P09215 | Prkcd | Protein kinase C delta type | Rattus norvegicus (Rat) | PR |
O08874 | Pkn2 | Serine/threonine-protein kinase N2 | Rattus norvegicus (Rat) | SS |
P34722 | tpa-1 | Protein kinase C-like 1 | Caenorhabditis elegans | PR |
Q9SUA3 | D6PKL1 | Serine/threonine-protein kinase D6PKL1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
A7MBL8 | pkn2 | Serine/threonine-protein kinase N2 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MSPFLRIGLS | NFDCGSCQSC | QGEAVNPYCA | VLVKEYVESE | NGQMYIQKKP | TMYPPWDSTF |
70 | 80 | 90 | 100 | 110 | 120 |
DAHINKGRVM | QIIVKGKNVD | LISETTVELY | SLAERCRKNN | GKTEIWLELK | PQGRMLMNAR |
130 | 140 | 150 | 160 | 170 | 180 |
YFLEMSDTKD | MNEFETEGFF | ALHQRRGAIK | QAKVHHVKCH | EFTATFFPQP | TFCSVCHEFV |
190 | 200 | 210 | 220 | 230 | 240 |
WGLNKQGYQC | RQCNAAIHKK | CIDKVIAKCT | GSAINSRETM | FHKERFKIDM | PHRFKVYNYK |
250 | 260 | 270 | 280 | 290 | 300 |
SPTFCEHCGT | LLWGLARQGL | KCDACGMNVH | HRCQTKVANL | CGINQKLMAE | ALAMIESTQQ |
310 | 320 | 330 | 340 | 350 | 360 |
ARCLRDTEQI | FREGPVEIGL | PCSIKNEARP | PCLPTPGKRE | PQGISWESPL | DEVDKMCHLP |
370 | 380 | 390 | 400 | 410 | 420 |
EPELNKERPS | LQIKLKIEDF | ILHKMLGKGS | FGKVFLAEFK | KTNQFFAIKA | LKKDVVLMDD |
430 | 440 | 450 | 460 | 470 | 480 |
DVECTMVEKR | VLSLAWEHPF | LTHMFCTFQT | KENLFFVMEY | LNGGDLMYHI | QSCHKFDLSR |
490 | 500 | 510 | 520 | 530 | 540 |
ATFYAAEIIL | GLQFLHSKGI | VYRDLKLDNI | LLDKDGHIKI | ADFGMCKENM | LGDAKTNTFC |
550 | 560 | 570 | 580 | 590 | 600 |
GTPDYIAPEI | LLGQKYNHSV | DWWSFGVLLY | EMLIGQSPFH | GQDEEELFHS | IRMDNPFYPR |
610 | 620 | 630 | 640 | 650 | 660 |
WLEKEAKDLL | VKLFVREPEK | RLGVRGDIRQ | HPLFREINWE | ELERKEIDPP | FRPKVKSPFD |
670 | 680 | 690 | 700 | ||
CSNFDKEFLN | EKPRLSFADR | ALINSMDQNM | FRNFSFMNPG | MERLIS |