P24723
SS
Gene name |
PRKCH (PKCL, PRKCL) |
Protein name |
Protein kinase C eta type |
Names |
EC 2.7.11.13 , PKC-L , nPKC-eta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5583 |
EC number |
2.7.11.13: Protein-serine/threonine kinases |
Protein Class |
|
Descriptions
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.<br>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.<br>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 |
346-683 (Kinase domain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
496-519 (Activation loop from InterPro)
Target domain |
359-681 (Catalytic domain of the Serine/Threonine Kinase, Novel Protein Kinase C eta) |
Relief mechanism |
|
Assay |
|
496-519 (Activation loop from InterPro)
Target domain |
355-681 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100
- Huang X et al. (2003) "Crystal structure of an inactive Akt2 kinase domain", Structure (London, England : 1993), 11, 21-30
- Truebestein L et al. (2021) "Structure of autoinhibited Akt1 reveals mechanism of PIP(3)-mediated activation", Proceedings of the National Academy of Sciences of the United States of America, 118,
- Lučić I et al. (2018) "Conformational sampling of membranes by Akt controls its activation and inactivation", Proceedings of the National Academy of Sciences of the United States of America, 115, E3940-E3949
Autoinhibited structure
Activated structure
5 structures for P24723
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2FK9 | X-ray | 175 A | A | 1-138 | PDB |
| 3TXO | X-ray | 205 A | A | 333-683 | PDB |
| 8FP1 | X-ray | 185 A | A | 333-683 | PDB |
| 8FP3 | X-ray | 230 A | A | 333-683 | PDB |
| AF-P24723-F1 | Predicted | AlphaFoldDB |
482 variants for P24723
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001254629 rs2045636372 |
55 | G>A | Ischemic stroke [ClinVar] | Yes |
ClinVar dbSNP |
|
CA117162 rs2230500 VAR_034604 RCV000005279 |
374 | V>I | Cerebral infarction, susceptibility to associated with susceptibility to ischemic stroke; increases autophosphorylation and kinase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA262257544 rs958832530 |
2 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA390094150 rs1175984995 |
3 | S>P | No |
ClinGen gnomAD |
|
|
rs1196220004 CA390094157 |
4 | G>S | No |
ClinGen TOPMed |
|
|
rs765167007 CA7214971 |
5 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA390094166 rs1306661027 |
5 | T>I | No |
ClinGen gnomAD |
|
|
CA390094182 rs1443653480 |
7 | K>N | No |
ClinGen gnomAD |
|
|
rs1348096883 CA390094180 |
7 | K>R | No |
ClinGen gnomAD |
|
|
CA390094190 rs1279626139 |
8 | F>L | No |
ClinGen gnomAD |
|
|
CA7214972 rs371540089 |
9 | N>S | Variant assessed as Somatic; 5.429e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 10 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763038774 CA7214973 |
11 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs557606070 CA7214974 |
13 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390094236 rs1182708761 |
15 | R>L | No |
ClinGen gnomAD |
|
|
CA390094235 rs1182708761 |
15 | R>P | No |
ClinGen gnomAD |
|
|
CA390094241 rs1201894343 |
16 | I>T | No |
ClinGen TOPMed |
|
|
CA390094247 rs1195704186 |
17 | G>A | No |
ClinGen gnomAD |
|
|
rs138654844 CA7214975 |
17 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755012009 CA7214976 |
19 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs755012009 CA390094257 |
19 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7214977 VAR_042312 rs55645551 |
19 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7214978 rs752215620 |
20 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs755653210 CA7214979 |
21 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7214980 rs553588998 |
25 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1305111487 CA390094290 |
25 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs574074666 CA7214981 |
26 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756874616 CA390094297 |
26 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756874616 CA7214982 |
26 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370080348 CA390094300 |
27 | W>R | No |
ClinGen TOPMed |
|
|
rs1196284150 CA390094309 |
28 | S>P | No |
ClinGen gnomAD |
|
|
rs1449901545 CA390094322 |
30 | R>H | No |
ClinGen gnomAD |
|
|
CA390094328 rs1594910673 |
31 | H>P | No |
ClinGen Ensembl |
|
|
CA390094337 rs1253785238 |
32 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1054017071 CA262257547 |
32 | S>P | No |
ClinGen Ensembl |
|
|
rs747362339 CA7214984 |
33 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA7214987 rs748549094 |
35 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7214989 rs372517762 |
40 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390094420 rs1458261811 |
45 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 48 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA262257548 rs923637190 |
48 | S>R | No |
ClinGen TOPMed |
|
|
CA7214994 rs148375974 |
52 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7214993 rs148375974 |
52 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs188244458 CA7214995 |
54 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390094492 rs1456954403 |
56 | Q>H | No |
ClinGen TOPMed |
|
|
CA390094494 rs1228108672 |
57 | T>P | No |
ClinGen gnomAD |
|
|
rs763702641 CA7214997 |
58 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 58 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7214998 rs753266391 |
61 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 62 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7214999 rs55737090 VAR_042313 |
65 | K>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs778532263 CA7215000 |
66 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA390094558 rs778532263 |
66 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs201686253 CA7215001 |
67 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA262257550 rs1004060105 |
69 | N>S | No |
ClinGen Ensembl |
|
|
CA262257551 rs901779406 |
71 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1314097369 CA390094597 |
72 | F>I | No |
ClinGen TOPMed |
|
|
CA390094603 rs1305176112 |
72 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 73 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748723704 CA7215004 |
77 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA390094638 rs1417926976 |
78 | D>N | No |
ClinGen gnomAD |
|
|
rs139343528 CA7215007 |
80 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7215010 rs759774084 |
83 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA390094724 rs760717622 |
90 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA7215013 rs760717622 |
90 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA7215015 CA262257555 rs147367746 |
96 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA262257554 rs760289224 |
96 | H>R | No |
ClinGen Ensembl |
|
|
rs764674032 CA7215017 |
98 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA390094784 rs1254496460 |
100 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 100 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1012259991 CA262257556 |
100 | N>T | No |
ClinGen Ensembl |
|
|
rs758009294 CA7215019 |
101 | C>Y | No |
ClinGen ExAC |
|
|
CA390094812 rs1257644853 |
104 | Q>R | No |
ClinGen gnomAD |
|
|
CA262257557 rs35694827 |
109 | L>V | No |
ClinGen Ensembl |
|
|
rs778135822 CA7215023 |
110 | R>C | No |
ClinGen ExAC |
|
|
rs34318441 CA262257558 |
110 | R>G | No |
ClinGen Ensembl |
|
|
rs749741484 CA7215024 |
110 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1594910908 CA390094858 |
111 | T>R | No |
ClinGen Ensembl |
|
|
rs371651183 CA390094867 |
113 | G>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs371651183 CA7215026 |
113 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1373357853 CA390094881 |
115 | S>L | No |
ClinGen gnomAD |
|
|
CA262257559 rs951958309 |
116 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1313359448 CA390094884 |
116 | D>H | No |
ClinGen gnomAD |
|
|
rs1004772639 CA262257560 |
117 | T>S | No |
ClinGen Ensembl |
|
|
CA262257561 rs1015198006 |
118 | F>Y | No |
ClinGen Ensembl |
|
|
rs772164738 CA7215028 |
120 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1309233833 CA390094912 |
120 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 120 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 121 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1282310726 CA389915346 |
122 | V>A | No |
ClinGen gnomAD |
|
|
rs1223626790 CA389915342 |
122 | V>L | No |
ClinGen TOPMed |
|
|
rs759178394 CA7215060 |
123 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA389915370 rs1181266013 |
124 | L>F | No |
ClinGen gnomAD |
|
|
CA261732067 rs967553802 |
125 | E>D | No |
ClinGen TOPMed |
|
|
CA7215062 rs754222218 |
125 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7215063 rs145021572 |
129 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7215065 rs568287827 |
130 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs550512600 CA261732085 |
132 | V>M | No |
ClinGen 1000Genomes |
|
|
CA7215069 rs747230804 |
135 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs755198845 CA7215070 |
136 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7215072 rs142236183 |
137 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389915557 rs1369996808 |
137 | T>S | No |
ClinGen gnomAD |
|
|
rs142236183 CA7215071 |
137 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1305353947 CA389915563 |
138 | G>R | No |
ClinGen gnomAD |
|
|
rs1348730093 CA389915585 |
139 | S>N | No |
ClinGen gnomAD |
|
|
rs1306466741 CA389915619 |
141 | T>I | No |
ClinGen TOPMed |
|
|
rs985139410 CA261732136 |
142 | E>K | No |
ClinGen TOPMed |
|
|
rs1008765953 CA261769824 |
144 | T>N | No |
ClinGen Ensembl |
|
|
rs1235379489 CA389923327 |
145 | L>I | No |
ClinGen gnomAD |
|
|
rs1273986848 CA389923339 |
146 | Q>H | No |
ClinGen gnomAD |
|
|
rs748623872 CA389923356 |
149 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
VAR_042314 rs55848048 CA7215099 |
149 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs748623872 CA261769836 |
149 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs151228277 CA261769848 |
150 | I>V | No |
ClinGen ESP TOPMed |
|
|
rs1448127969 CA389923366 |
151 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA389923378 rs1285632446 |
152 | K>R | No |
ClinGen TOPMed |
|
|
CA389923376 rs1285632446 |
152 | K>T | No |
ClinGen TOPMed |
|
|
rs771642829 CA7215100 |
153 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1017508706 CA261769862 |
158 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7215101 rs775295437 |
158 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs965037905 CA261769879 |
162 | M>V | No |
ClinGen Ensembl |
|
|
CA389923452 rs1357586397 |
163 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs772141815 CA261769882 |
165 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA7215102 rs760356143 |
165 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs765731544 CA7215103 |
166 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs765731544 CA389923465 |
166 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA389923486 rs1452598715 |
169 | I>L | No |
ClinGen gnomAD |
|
|
CA7215104 rs773599342 |
169 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs766898815 CA7215106 |
170 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1042559 CA7215107 |
172 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1042559 CA261769920 |
172 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 174 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7215108 rs575103382 |
174 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389923546 rs1201378559 |
177 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs777584566 CA7215112 |
181 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1594711968 CA389923575 |
182 | P>A | No |
ClinGen Ensembl |
|
|
rs753643939 CA7215113 |
182 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1594711994 CA389923640 |
191 | F>V | No |
ClinGen Ensembl |
|
|
rs1210805165 CA389923648 |
192 | I>F | No |
ClinGen gnomAD |
|
|
CA7215131 rs760935968 |
194 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 198 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1479989688 CA389923720 |
200 | G>D | No |
ClinGen gnomAD |
|
|
rs1284143931 CA389923752 |
204 | Q>L | No |
ClinGen gnomAD |
|
|
CA389914596 rs1306260363 |
207 | T>A | No |
ClinGen gnomAD |
|
|
CA7215144 rs774536128 |
207 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA389914595 rs1306260363 |
207 | T>P | No |
ClinGen gnomAD |
|
|
rs368647767 CA7215146 |
210 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7215147 rs202180210 |
213 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760739355 CA7215148 |
213 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1191715100 CA389914651 |
215 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs764023611 CA7215149 |
221 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1426656503 CA389914697 |
222 | C>F | No |
ClinGen gnomAD |
|
|
CA7215150 rs776934704 |
223 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 224 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1424395072 CA389914705 |
224 | C>S | No |
ClinGen gnomAD |
|
|
CA389914725 rs1470282446 |
226 | N>S | No |
ClinGen gnomAD |
|
|
CA7215151 rs761903515 |
227 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563924358 CA7215152 |
229 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1397164186 CA389914753 |
230 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 233 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7215153 rs750223838 |
233 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 234 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389914799 rs762849142 |
235 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7215173 rs766215470 |
235 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA7215172 rs762849142 |
235 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389914840 rs1208877908 |
241 | G>R | No |
ClinGen gnomAD |
|
|
rs767091006 CA389914867 |
244 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1594720274 CA389914864 |
244 | I>T | No |
ClinGen Ensembl |
|
|
rs946120687 CA261733387 |
249 | S>R | No |
ClinGen TOPMed |
|
|
CA7215177 rs752125502 |
252 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755852242 CA7215178 |
254 | K>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 256 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 258 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748871758 CA7215180 |
260 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 263 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7215182 rs780356530 |
269 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 270 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7215183 rs747593644 |
271 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7215184 rs769023346 |
274 | L>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 275 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1242141490 CA389916002 |
275 | Q>P | No |
ClinGen gnomAD |
|
|
CA389916032 rs1309676452 |
277 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1199452116 CA389916648 |
278 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1437949530 CA389916678 |
280 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA389916684 rs1252792547 |
281 | M>V | No |
ClinGen gnomAD |
|
|
CA261735160 rs760236853 |
286 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA7215201 rs371276454 |
286 | R>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs371276454 CA7215200 |
286 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA389916754 rs1475357713 |
289 | A>V | No |
ClinGen gnomAD |
|
|
rs748634122 CA7215203 |
290 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA261735237 rs754738854 |
291 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA7215205 rs777956117 |
294 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 296 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1011094446 CA389916803 |
297 | V>E | No |
ClinGen Ensembl |
|
|
rs1011094446 CA261735268 |
297 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 299 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774258230 CA7215208 |
299 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA389916818 rs1220718964 |
300 | V>M | No |
ClinGen TOPMed |
|
|
rs760621607 CA7215212 |
304 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA261735294 rs979870551 |
304 | K>R | No |
ClinGen TOPMed |
|
|
CA7215215 rs200285035 |
307 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200285035 CA7215214 |
307 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7215216 rs538761869 |
308 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs138270847 CA7215217 |
310 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7215219 rs781575449 |
312 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753172125 CA7215221 |
313 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1260415578 CA389916899 |
313 | P>H | No |
ClinGen gnomAD |
|
|
CA7215220 rs753172125 |
313 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7215222 rs778046869 |
314 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7215223 rs749362293 |
315 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs757619181 CA7215224 |
319 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746043886 CA7215226 |
320 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748033368 CA7215252 |
322 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs748033368 CA7215253 |
322 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7215254 rs772743419 |
323 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1254934146 CA389917434 |
324 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1254934146 CA389917432 |
324 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1248972620 CA389917447 |
326 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs375585839 CA7215255 |
327 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776061843 CA7215257 |
328 | L>P | No |
ClinGen ExAC |
|
|
rs761123346 CA7215258 |
329 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA389917464 rs1436854954 |
330 | R>* | No |
ClinGen gnomAD |
|
|
rs764493461 CA7215259 |
330 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA261739328 rs1026343242 |
331 | Q>H | No |
ClinGen TOPMed |
|
|
rs1339460336 CA389917478 |
332 | G>A | No |
ClinGen gnomAD |
|
|
CA389917500 rs1440276568 |
335 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1440276568 CA389917501 |
335 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs150191112 CA7215261 |
338 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7215262 rs765283121 |
339 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA389917533 rs1173231546 |
340 | N>D | No |
ClinGen gnomAD |
|
|
rs750503358 CA7215263 |
341 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1396095974 CA389917540 |
341 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs758615553 CA7215264 |
342 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA389917547 rs1253468086 |
342 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs138741551 CA7215265 |
343 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1299746181 CA389917559 |
344 | V>G | No |
ClinGen gnomAD |
|
|
rs751725441 CA7215266 |
344 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389917563 rs1594727284 |
345 | N>D | No |
ClinGen Ensembl |
|
|
CA389917585 rs1234863841 |
348 | N>S | No |
ClinGen gnomAD |
|
|
CA261739421 rs201141492 |
349 | R>* | No |
ClinGen Ensembl |
|
|
rs144117692 CA7215268 |
349 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1458003474 CA389917602 |
351 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA389917599 rs769745387 |
351 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA7215270 rs769745387 |
351 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs777203431 CA7215271 |
352 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs372552734 CA7215274 |
353 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7215273 rs144820351 |
353 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759215237 CA7215275 |
354 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1190857310 CA389917630 |
356 | E>K | No |
ClinGen TOPMed |
|
|
rs769174894 CA7215276 |
357 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1010243 CA261739461 |
358 | I>T | No |
ClinGen Ensembl |
|
|
CA389917652 rs1401498476 |
359 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
VAR_042315 rs55818778 CA7215277 |
359 | R>Q | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs978961536 CA261739500 |
360 | V>A | No |
ClinGen TOPMed |
|
|
CA7215278 rs762285840 |
360 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs879200507 CA261739503 |
362 | G>R | No |
ClinGen Ensembl |
|
|
CA7215280 rs750830348 |
367 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA7215304 rs61740172 |
373 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759807732 CA7215306 |
375 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs767719225 CA7215307 |
376 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA7215309 rs755948083 |
381 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 384 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370097946 CA389917864 |
389 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7215310 rs763745405 |
389 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs913605736 CA261739987 |
390 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1446837577 CA389917895 |
394 | D>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7215312 rs757111294 |
395 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA389917918 rs1380866147 |
397 | V>A | No |
ClinGen gnomAD |
|
|
rs1228735928 CA389917920 |
398 | E>Q | No |
ClinGen gnomAD |
|
|
rs757915889 CA7215315 |
401 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA7215314 rs745368497 |
401 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA389917953 rs1566893813 |
402 | T>I | No |
ClinGen Ensembl |
|
|
CA7215317 rs746595259 |
403 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7215318 rs139545289 |
405 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7215319 rs773421169 |
406 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs376802103 CA7215320 |
406 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1555389400 CA389917981 |
407 | L>V | No |
ClinGen Ensembl |
|
|
CA389917989 rs1445557919 |
408 | S>C | No |
ClinGen TOPMed |
|
|
rs150503275 CA7215322 |
411 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA261740052 rs372426911 |
411 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA389918005 rs372426911 |
411 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA389918006 rs1269914183 |
412 | N>H | No |
ClinGen TOPMed |
|
|
CA261740059 rs139449371 |
412 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs759613422 CA7215323 |
414 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1360578025 CA389918041 |
417 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA389918040 rs1360578025 |
417 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA261740080 rs931788957 |
417 | T>S | No |
ClinGen Ensembl |
|
|
CA389918058 rs1264311879 |
419 | L>F | No |
ClinGen gnomAD |
|
|
rs1429573497 CA389918065 |
420 | F>C | No |
ClinGen gnomAD |
|
|
rs1555389420 CA389918074 |
421 | C>* | No |
ClinGen Ensembl |
|
|
CA389918069 rs1198811697 |
421 | C>R | No |
ClinGen gnomAD |
|
| TCGA novel | 425 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389918100 rs1594728036 |
425 | T>P | No |
ClinGen Ensembl |
|
|
rs775801472 CA7215325 |
426 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA389918108 rs775801472 |
426 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs775801472 CA261740094 |
426 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs767525082 CA7215324 |
426 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389922519 rs1289587770 |
428 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA389922529 rs1594754397 |
430 | F>L | No |
ClinGen Ensembl |
|
|
CA389922545 rs750415644 |
432 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA7215352 rs750415644 |
432 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs762950427 CA7215353 |
434 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7215354 rs765959373 |
435 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1594754437 CA389922583 |
437 | N>S | No |
ClinGen Ensembl |
|
|
CA389922591 rs1421074710 |
438 | G>E | No |
ClinGen gnomAD |
|
|
CA7215355 rs751016207 |
439 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA389922605 rs1306211350 |
441 | L>M | No |
ClinGen TOPMed |
|
|
rs1238675295 CA389922624 |
443 | F>Y | No |
ClinGen TOPMed |
|
|
CA261759912 rs555052583 |
445 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7215356 rs555052583 |
445 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389922654 rs752292090 |
447 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs752292090 CA7215358 |
447 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs752292090 CA389922653 |
447 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA389922665 rs1325382613 |
449 | R>C | No |
ClinGen gnomAD |
|
|
rs886928786 CA261759916 |
449 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA7215359 rs757643373 |
450 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7215361 rs746414890 |
450 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA7215360 rs757643373 |
450 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7215362 rs772545889 |
454 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs949529886 CA261759956 |
454 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 455 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389922701 rs1375857040 |
455 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1284005245 CA389922712 |
457 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA389922713 rs1354604856 |
457 | R>H | No |
ClinGen gnomAD |
|
|
rs376484329 CA261759966 |
459 | Y>H | No |
ClinGen Ensembl |
|
|
CA261759971 rs865839442 |
465 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs998164413 CA261759979 |
467 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs998164413 CA389922777 |
467 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7215368 CA7215369 rs769749007 |
468 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7215367 rs762085785 |
468 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs377561148 CA7215366 |
468 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7215370 rs763038149 |
471 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs766218812 CA7215371 |
473 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 474 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs954100971 CA261760007 |
476 | I>L | No |
ClinGen gnomAD |
|
|
CA7215373 rs758984853 |
477 | Y>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 479 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7215393 rs760379719 |
480 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs76877576 CA262266098 |
485 | V>A | No |
ClinGen Ensembl |
|
|
rs758711431 CA7215396 |
486 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs752044064 CA7215398 |
490 | E>K | No |
ClinGen ExAC gnomAD |
|
|
VAR_060736 rs11846991 CA262266101 |
497 | D>Y | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs781476928 CA7215400 |
498 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 499 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1291711995 CA390095825 |
499 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA390095842 rs1212742828 |
501 | C>G | No |
ClinGen TOPMed |
|
|
CA262266102 rs949467883 |
504 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA390095885 rs1457107562 |
507 | N>D | No |
ClinGen gnomAD |
|
|
rs778159411 CA7215403 |
507 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390095897 rs1239630841 |
509 | V>I | No |
ClinGen TOPMed |
|
|
rs1594788517 CA390095903 |
510 | T>P | No |
ClinGen Ensembl |
|
|
rs749481662 CA7215404 |
511 | T>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 514 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390095942 rs1375959337 |
516 | G>S | No |
ClinGen gnomAD |
|
|
rs1467782886 CA390095953 |
517 | T>M | No |
ClinGen gnomAD |
|
|
CA390095985 rs1566930228 |
522 | A>T | No |
ClinGen Ensembl |
|
|
CA390095990 rs1333747945 |
523 | P>A | No |
ClinGen gnomAD |
|
|
CA390095993 rs1594788565 |
523 | P>Q | No |
ClinGen Ensembl |
|
|
rs760191581 CA7215410 |
524 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7215435 rs369628916 |
525 | I>F | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 525 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1490812192 CA390096094 |
529 | M>I | No |
ClinGen gnomAD |
|
|
CA7215438 rs764319788 |
532 | G>R | No |
ClinGen ExAC |
|
|
rs753941874 CA7215439 |
533 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1179153921 CA390096183 |
538 | W>* | No |
ClinGen gnomAD |
|
|
rs143305006 CA7215440 |
539 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1163116391 CA390096211 |
540 | M>I | No |
ClinGen gnomAD |
|
|
rs563690013 CA7215441 |
540 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs956610949 CA262266282 |
540 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1425794337 CA390096226 |
542 | V>L | No |
ClinGen gnomAD |
|
|
rs1425794337 CA390096223 |
542 | V>M | No |
ClinGen gnomAD |
|
|
CA7215444 rs758220032 |
551 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746996721 CA7215445 |
552 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs916511158 CA262266285 |
552 | A>V | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1043569416 CA262266286 |
556 | A>G | No |
ClinGen TOPMed |
|
|
CA390096410 rs1310290244 |
558 | N>T | No |
ClinGen gnomAD |
|
|
CA7215448 rs747695025 |
559 | E>D | No |
ClinGen ExAC |
|
|
CA262266287 rs980903183 |
561 | D>E | No |
ClinGen Ensembl |
|
|
rs1461856669 CA390096446 |
561 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs564614446 CA7215450 |
565 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 565 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7215451 rs374049317 |
566 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1218021064 CA390096537 |
569 | D>G | No |
ClinGen gnomAD |
|
|
rs1180501909 CA390096573 |
572 | V>A | No |
ClinGen gnomAD |
|
|
rs775978173 CA7215453 |
572 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1417752804 CA390096582 |
573 | Y>C | No |
ClinGen TOPMed |
|
|
rs1445771553 CA390096590 |
574 | P>S | No |
ClinGen gnomAD |
|
|
rs1378993559 VAR_042316 CA390096597 |
575 | T>A | a aLL TEL/AML1+ sample; somatic mutation [UniProt] | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
CA7215454 rs761323702 |
575 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA390096600 rs761323702 |
575 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA7215456 rs754231961 |
577 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs754231961 CA390096621 |
577 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs765189552 CA7215458 |
578 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs750697026 CA7215459 |
578 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs758595244 CA7215460 |
579 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA390096641 rs758595244 |
579 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7215461 rs779881359 |
579 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA7215462 rs751348748 |
582 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1250045564 CA390096685 |
583 | G>R | No |
ClinGen TOPMed |
|
|
CA7215463 rs754699381 |
584 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs138537182 CA390096707 |
585 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777403085 CA7215490 |
588 | F>L | No |
ClinGen ExAC gnomAD |
|
| VAR_042317 | 594 | T>I | a colorectal adenocarcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
rs41304373 CA7215491 |
594 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745470680 CA7215494 |
595 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778721716 CA7215493 |
595 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA7215495 rs752329416 |
596 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs776837616 CA7215496 |
596 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA262268213 rs1018493530 |
597 | L>F | No |
ClinGen Ensembl |
|
|
rs146732086 CA7215498 |
601 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 601 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 602 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7215499 rs773638904 |
605 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766392430 CA7215501 |
606 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 607 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774584017 CA7215502 |
608 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA390097166 rs1346415244 |
610 | R>K | No |
ClinGen gnomAD |
|
|
rs34159231 CA390097180 |
612 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_042318 CA7215503 rs34159231 |
612 | P>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs868127012 CA262268214 |
614 | F>C | No |
ClinGen Ensembl |
|
|
rs1483018230 CA390097203 |
615 | K>R | No |
ClinGen gnomAD |
|
|
rs373505351 CA7215506 |
618 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs752424056 CA262268215 |
618 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752424056 CA7215505 |
618 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1289873232 CA390097225 |
618 | D>V | No |
ClinGen gnomAD |
|
|
CA390097229 rs1162102190 |
619 | W>R | No |
ClinGen Ensembl |
|
|
rs764133551 CA7215507 |
620 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs753770978 CA7215508 |
621 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390097253 rs1490412947 |
623 | N>H | No |
ClinGen gnomAD |
|
|
rs756851217 CA7215509 |
624 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs375617319 CA262268217 |
625 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA262268216 rs375617319 |
625 | R>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1476309308 CA390097278 |
626 | Q>H | No |
ClinGen gnomAD |
|
|
rs1032709937 CA262268218 |
627 | I>T | No |
ClinGen gnomAD |
|
|
CA390097299 rs1413045560 |
629 | P>L | No |
ClinGen gnomAD |
|
|
CA390097320 rs1217862671 |
632 | R>S | No |
ClinGen TOPMed |
|
|
rs1367279158 CA390097321 |
633 | P>S | No |
ClinGen TOPMed |
|
|
CA390097334 rs1399641129 |
635 | I>L | No |
ClinGen gnomAD |
|
|
CA390097338 rs1316570041 |
635 | I>T | No |
ClinGen gnomAD |
|
|
rs868468629 CA262268412 |
637 | S>F | No |
ClinGen gnomAD |
|
|
rs868468629 CA390097416 |
637 | S>Y | No |
ClinGen gnomAD |
|
|
rs1172273146 CA390097419 |
638 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7215538 rs749846112 |
638 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749846112 CA7215539 |
638 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7215541 rs745943503 |
640 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs779035031 CA7215540 |
640 | D>N | No |
ClinGen ExAC |
|
|
rs1337779802 CA390097436 |
641 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA390097435 rs1337779802 |
641 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA390097442 rs1390131609 |
642 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs775597386 CA7215543 |
642 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1390131609 CA390097441 |
642 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7215545 rs768619375 |
644 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 645 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA262268413 VAR_042438 rs35561533 |
645 | D>V | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1320928497 CA390097524 |
649 | I>V | No |
ClinGen gnomAD |
|
|
CA262268414 rs113293323 |
650 | K>E | No |
ClinGen Ensembl |
|
|
rs1225165840 CA390097533 |
650 | K>R | No |
ClinGen gnomAD |
|
|
CA262268415 rs960992835 |
651 | E>Q | No |
ClinGen TOPMed |
|
|
rs761908324 CA7215547 |
654 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1252562048 CA390097586 |
658 | I>M | No |
ClinGen gnomAD |
|
|
rs750314061 CA7215549 |
658 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs750314061 CA390097584 |
658 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA7215548 rs765269996 |
658 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390097591 rs1566939962 |
659 | D>G | No |
ClinGen Ensembl |
|
|
CA390097614 rs1427523303 |
662 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs878920722 CA262268419 |
662 | H>R | No |
ClinGen Ensembl |
|
|
rs1198214032 CA390097610 |
662 | H>Y | No |
ClinGen gnomAD |
|
|
CA390097626 rs1430622273 |
664 | P>L | No |
ClinGen TOPMed |
|
|
rs867387801 CA262268420 |
664 | P>S | No |
ClinGen Ensembl |
|
|
CA390097631 rs1320369946 |
665 | M>T | No |
ClinGen TOPMed |
|
|
CA7215551 rs182320436 |
665 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1177644387 CA390097638 |
666 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA390097662 rs1423280524 |
669 | D>G | No |
ClinGen gnomAD |
|
|
CA7215553 rs754605698 |
670 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA262268421 rs146174488 |
675 | S>F | No |
ClinGen Ensembl |
|
|
rs1386859300 CA390097704 |
675 | S>P | No |
ClinGen TOPMed |
|
|
rs924097629 CA262268422 |
676 | Y>C | No |
ClinGen TOPMed |
|
|
rs956841954 CA262268423 |
677 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA390097735 rs1242565261 |
680 | E>* | No |
ClinGen TOPMed |
|
|
rs527487305 CA7215556 |
681 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779301835 CA7215557 |
682 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs899676221 CA262268426 |
683 | P>L | No |
ClinGen Ensembl |
1 associated diseases with P24723
[MIM: 601367]: Ischemic stroke (ISCHSTR)
A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors. . Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Without disease ID
- A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors. . Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
13 regional properties for P24723
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | C2 domain | 1 - 118 | IPR000008 |
| domain | Protein kinase domain | 355 - 614 | IPR000719 |
| domain | AGC-kinase, C-terminal | 615 - 683 | IPR000961 |
| domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | 171 - 225 | IPR002219-1 |
| domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | 245 - 297 | IPR002219-2 |
| active_site | Serine/threonine-protein kinase, active site | 475 - 487 | IPR008271 |
| binding_site | Protein kinase, ATP binding site | 361 - 384 | IPR017441 |
| domain | Protein kinase, C-terminal | 635 - 676 | IPR017892 |
| domain | Diacylglycerol/phorbol-ester binding | 169 - 183 | IPR020454-1 |
| domain | Diacylglycerol/phorbol-ester binding | 185 - 194 | IPR020454-2 |
| domain | Diacylglycerol/phorbol-ester binding | 199 - 210 | IPR020454-3 |
| domain | Diacylglycerol/phorbol-ester binding | 284 - 296 | IPR020454-4 |
| domain | Novel protein kinase C eta, catalytic domain | 359 - 681 | IPR034665 |
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 | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell-cell junction | A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| diacylglycerol-dependent serine/threonine kinase activity | Catalysis of the reaction |
| diacylglycerol-dependent, calcium-independent serine/threonine kinase activity | Catalysis of the reaction |
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| 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 |
| protein serine kinase activity | Catalysis of the reactions |
| protein serine/threonine kinase activity | Catalysis of the reactions |
| small GTPase binding | Binding to a small monomeric GTPase. |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| cell differentiation | The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| negative regulation of glial cell apoptotic process | Any process that stops, prevents, or reduces the frequency, rate, or extent of glial cell apoptotic process. |
| positive regulation of B cell receptor signaling pathway | Any process that activates or increases the frequency, rate or extent of signaling pathways initiated by the cross-linking of an antigen receptor on a B cell. |
| positive regulation of glial cell proliferation | Any process that activates or increases the rate or extent of glial cell proliferation. |
| positive regulation of keratinocyte differentiation | Any process that activates or increases the frequency, rate or extent of keratinocyte differentiation. |
| positive regulation of macrophage derived foam cell differentiation | Any process that increases the rate, frequency or extent of macrophage derived foam cell differentiation. Macrophage derived foam cell differentiation is the process in which a macrophage acquires the specialized features of a foam cell. A foam cell is a type of cell containing lipids in small vacuoles and typically seen in atherosclerotic lesions, as well as other conditions. |
| 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 protein localization to plasma membrane | Any process that activates or increases the frequency, rate or extent of protein localization to plasma membrane. |
| protein kinase C signaling | A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase C, which occurs as a result of a single trigger reaction or compound. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of bicellular tight junction assembly | Any process that modulates the frequency, rate or extent of tight junction assembly. |
| 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. |
49 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 |
| P05126 | PRKCB | Protein kinase C beta type | 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 |
| P05130 | Pkc53E | Protein kinase C, brain isozyme | Drosophila melanogaster (Fruit fly) | SS |
| P13677 | inaC | Protein kinase C, eye isozyme | Drosophila melanogaster (Fruit fly) | SS |
| 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 |
| Q02156 | PRKCE | Protein kinase C epsilon type | Homo sapiens (Human) | SS |
| Q04759 | PRKCQ | Protein kinase C theta type | Homo sapiens (Human) | PR |
| 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 |
| Q02111 | Prkcq | Protein kinase C theta 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 |
| P28867 | Prkcd | Protein kinase C delta type | Mus musculus (Mouse) | PR |
| P16054 | Prkce | Protein kinase C epsilon type | Mus musculus (Mouse) | PR |
| P23298 | Prkch | Protein kinase C eta type | Mus musculus (Mouse) | PR |
| P63318 | Prkcg | Protein kinase C gamma type | Mus musculus (Mouse) | SS |
| P68404 | Prkcb | Protein kinase C beta type | Mus musculus (Mouse) | SS |
| Q63433 | Pkn1 | Serine/threonine-protein kinase N1 | Rattus norvegicus (Rat) | SS |
| 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 |
| Q64617 | Prkch | Protein kinase C eta type | Rattus norvegicus (Rat) | PR |
| P63319 | Prkcg | Protein kinase C gamma type | Rattus norvegicus (Rat) | SS |
| P34722 | tpa-1 | Protein kinase C-like 1 | Caenorhabditis elegans | PR |
| P90980 | pkc-2 | Protein kinase C-like 2 | Caenorhabditis elegans | SS |
| 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 |
| Q7SY24 | prkcbb | Protein kinase C beta type | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSSGTMKFNG | YLRVRIGEAV | GLQPTRWSLR | HSLFKKGHQL | LDPYLTVSVD | QVRVGQTSTK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QKTNKPTYNE | EFCANVTDGG | HLELAVFHET | PLGYDHFVAN | CTLQFQELLR | TTGASDTFEG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| WVDLEPEGKV | FVVITLTGSF | TEATLQRDRI | FKHFTRKRQR | AMRRRVHQIN | GHKFMATYLR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QPTYCSHCRE | FIWGVFGKQG | YQCQVCTCVV | HKRCHHLIVT | ACTCQNNINK | VDSKIAEQRF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GINIPHKFSI | HNYKVPTFCD | HCGSLLWGIM | RQGLQCKICK | MNVHIRCQAN | VAPNCGVNAV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ELAKTLAGMG | LQPGNISPTS | KLVSRSTLRR | QGKESSKEGN | GIGVNSSNRL | GIDNFEFIRV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LGKGSFGKVM | LARVKETGDL | YAVKVLKKDV | ILQDDDVECT | MTEKRILSLA | RNHPFLTQLF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CCFQTPDRLF | FVMEFVNGGD | LMFHIQKSRR | FDEARARFYA | AEIISALMFL | HDKGIIYRDL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KLDNVLLDHE | GHCKLADFGM | CKEGICNGVT | TATFCGTPDY | IAPEILQEML | YGPAVDWWAM |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GVLLYEMLCG | HAPFEAENED | DLFEAILNDE | VVYPTWLHED | ATGILKSFMT | KNPTMRLGSL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TQGGEHAILR | HPFFKEIDWA | QLNHRQIEPP | FRPRIKSRED | VSNFDPDFIK | EEPVLTPIDE |
| 670 | 680 | ||||
| GHLPMINQDE | FRNFSYVSPE | LQP |