P05129
Gene name |
PRKCG (PKCG) |
Protein name |
Protein kinase C gamma type |
Names |
PKC-gamma |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5582 |
EC number |
|
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Target domain |
351-685 (Catalytic domain of the Serine/Threonine Kinase, Classical Protein Kinase C alpha) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
497-520 (Activation loop from InterPro)
Target domain |
351-614 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Sommese RF et al. (2017) "The Role of Regulatory Domains in Maintaining Autoinhibition in the Multidomain Kinase PKCα", The Journal of biological chemistry, 292, 2873-2880
- Bichsel SJ et al. (2004) "Mechanism of activation of NDR (nuclear Dbf2-related) protein kinase by the hMOB1 protein", The Journal of biological chemistry, 279, 35228-35
- Stegert MR et al. (2004) "Regulation of NDR2 protein kinase by multi-site phosphorylation and the S100B calcium-binding protein", The Journal of biological chemistry, 279, 23806-12
- 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
- Huang X et al. (2003) "Crystal structure of an inactive Akt2 kinase domain", Structure (London, England : 1993), 11, 21-30
- Steinberg SF (2008) "Structural basis of protein kinase C isoform function", Physiological reviews, 88, 1341-78
- Pears CJ et al. (1990) "Mutagenesis of the pseudosubstrate site of protein kinase C leads to activation", European journal of biochemistry, 194, 89-94
- Smith MK et al. (1990) "Specificities of autoinhibitory domain peptides for four protein kinases. Implications for intact cell studies of protein kinase function", The Journal of biological chemistry, 265, 1837-40
- Yoshinaga C et al. (1999) "Mutational analysis of the regulatory mechanism of PKN: the regulatory region of PKN contains an arachidonic acid-sensitive autoinhibitory domain", Journal of biochemistry, 126, 475-84
- Ivey RA et al. (2014) "Requirements for pseudosubstrate arginine residues during autoinhibition and phosphatidylinositol 3,4,5-(PO₄)₃-dependent activation of atypical PKC", The Journal of biological chemistry, 289, 25021-30
- Masters TA et al. (2010) "Regulation of 3-phosphoinositide-dependent protein kinase 1 activity by homodimerization in live cells", Science signaling, 3, ra78
- Slater SJ et al. (2002) "Regulation of PKC alpha activity by C1-C2 domain interactions", The Journal of biological chemistry, 277, 15277-85
- Jones AC et al. (2020) "Hypothesis: Unifying model of domain architecture for conventional and novel protein kinase C isozymes", IUBMB life, 72, 2584-2590
- Kirwan AF et al. (2003) "Inhibition of protein kinase C catalytic activity by additional regions within the human protein kinase Calpha-regulatory domain lying outside of the pseudosubstrate sequence", The Biochemical journal, 373, 571-81
Autoinhibited structure

Activated structure

3 structures for P05129
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
2E73 | NMR | - | A | 36-105 | PDB |
2UZP | X-ray | 200 A | A/B/C | 154-295 | PDB |
AF-P05129-F1 | Predicted | AlphaFoldDB |
455 variants for P05129
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
RCV000035003 CA344650 rs386134157 |
26 | R>G | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
RCV000034959 CA344589 rs386134158 |
41 | R>P | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
RCV000194843 CA277394 rs797045900 |
52 | C>S | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
RCV000034967 RCV001818213 CA344597 rs386134159 VAR_080741 |
63 | G>V | SCA14 Spinocerebellar ataxia type 14 [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
RCV000501395 CA407412474 rs1555806333 |
66 | C>Y | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
RCV001175613 rs2068614711 |
76 | R>* | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinVar dbSNP |
rs386134160 CA344608 RCV000034975 |
77 | C>S | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
CA407412691 RCV000991052 rs1599938631 RCV000992815 |
77 | C>Y | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
rs17854523 RCV001175616 |
95 | D>E | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinVar dbSNP |
rs121918518 CA341275 RCV000014156 |
101 | H>Q | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
RCV001175615 rs2068656783 |
101 | H>R | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinVar dbSNP |
RCV000034984 rs386134161 |
101 | H>missing | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinVar dbSNP |
CA341257 rs121918511 RCV001268861 RCV000014149 VAR_017060 |
101 | H>Y | SCA14 Spinocerebellar ataxia type 14 [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
rs386134162 CA344621 RCV000034988 |
114 | C>Y | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
rs2068657131 RCV001256678 |
116 | H>R | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinVar dbSNP |
CA341263 rs121918514 RCV000014152 RCV001698941 |
118 | G>D | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
RCV000713005 CA344624 RCV000034990 rs386134163 |
119 | S>F | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
RCV000014150 CA341259 rs121918512 VAR_017061 |
119 | S>P | SCA14 Spinocerebellar ataxia type 14 [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
rs386134165 CA344630 RCV000034992 |
123 | G>E | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
CA344627 RCV000034991 rs386134164 |
123 | G>R | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
rs386134164 RCV001288726 RCV000991053 CA407414256 |
123 | G>R | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
rs1599943097 RCV000991047 CA407414280 |
127 | Q>K | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
RCV000517594 rs121918515 RCV000014153 CA341266 |
127 | Q>R | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
CA341261 rs121918513 RCV000014151 VAR_017062 |
128 | G>D | SCA14 Spinocerebellar ataxia type 14 [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
rs386134166 CA344633 RCV000034993 |
131 | C>R | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
CA344636 rs386134167 RCV000992817 RCV000034994 |
131 | C>Y | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
RCV000034996 CA344640 RCV000992818 rs386134168 |
138 | V>E | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
rs386134169 RCV000034998 CA344646 |
139 | H>Q | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
rs386134170 CA344643 RCV000034997 |
150 | C>F | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
CA9640304 RCV001128797 rs777612378 |
174 | H>D | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
CA9640379 RCV001128799 rs116236420 |
237 | E>D | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV000405542 CA9640381 rs771732555 |
238 | R>C | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
RCV000611141 rs1471641294 RCV001724087 CA407416186 |
239 | R>W | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
RCV001175614 rs2068685112 |
256 | M>T | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinVar dbSNP |
CA344584 rs386134171 RCV000034956 |
360 | G>S | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
RCV001288717 CA341272 rs121918517 RCV000014155 |
361 | S>G | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
rs769292201 RCV001328984 |
404 | A>T | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinVar dbSNP |
COSM1396176 CA9640596 rs751774653 RCV001091270 RCV001196826 |
461 | A>V | large_intestine skin haematopoietic_and_lymphoid_tissue Spinocerebellar ataxia type 14 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
rs387906679 CA259672 RCV000022737 |
480 | D>Y | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
RCV000992813 CA407419855 RCV000624501 rs1461447265 |
569 | E>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
rs551805527 RCV000318440 CA9640685 |
577 | S>L | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
CA9640689 RCV000600767 RCV001288723 rs143513754 |
583 | V>M | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV000624917 rs368825946 CA9640712 |
615 | R>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
RCV000786070 rs1303074743 CA407420249 |
628 | P>L | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
rs1360248213 CA407420291 RCV001134435 |
635 | P>L | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
CA341269 rs121918516 RCV000014154 |
643 | F>L | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
RCV000962758 CA9640765 RCV000283144 rs73937614 |
687 | S>G | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs78437096 CA344603 RCV000766758 RCV000516815 RCV000034972 |
692 | V>G | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
rs751824637 RCV000321761 CA9640770 |
696 | V>I | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
rs1555808841 RCV000014157 |
697 | M>missing | Spinocerebellar ataxia type 14 [ClinVar] | Yes |
ClinVar dbSNP |
RCV000658854 rs1555806221 |
1 | M>V | No |
ClinVar dbSNP |
|
CA9640172 rs753746668 |
2 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201929642 CA310078987 |
2 | A>T | No |
ClinGen gnomAD |
|
rs754944966 CA9640173 |
3 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407411652 rs1486341509 |
5 | G>D | No |
ClinGen gnomAD |
|
CA407411680 rs1434781374 |
8 | V>I | No |
ClinGen gnomAD |
|
rs1434781374 CA407411684 |
8 | V>L | No |
ClinGen gnomAD |
|
CA407411738 rs1457859334 |
12 | E>D | No |
ClinGen TOPMed |
|
CA407411741 rs1194188447 |
13 | G>R | No |
ClinGen gnomAD |
|
rs758361947 CA9640176 |
14 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758361947 CA9640177 |
14 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747191875 CA9640178 |
16 | R>G | No |
ClinGen ExAC gnomAD |
|
rs1360731511 CA407411778 |
16 | R>Q | No |
ClinGen gnomAD |
|
rs1286597703 CA407411785 |
17 | P>S | No |
ClinGen gnomAD |
|
CA310079048 rs987901154 |
20 | C>F | No |
ClinGen Ensembl |
|
rs1599937005 CA407411867 RCV000992822 |
23 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
CA310079060 rs923331350 |
24 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs763526841 CA9640183 |
26 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1599937036 CA407411929 |
29 | V>M | No |
ClinGen Ensembl |
|
rs545903399 CA9640184 |
30 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA310079097 rs909441759 |
31 | H>Q | No |
ClinGen TOPMed |
|
CA310079100 rs949228952 |
33 | V>I | No |
ClinGen Ensembl |
|
CA407412048 rs1226455260 |
37 | K>R | No |
ClinGen gnomAD |
|
CA9640191 rs752509680 |
43 | F>L | No |
ClinGen ExAC gnomAD |
|
CA407412167 rs1408514320 |
47 | T>P | No |
ClinGen gnomAD |
|
CA9640192 rs758426250 |
49 | C>S | No |
ClinGen ExAC gnomAD |
|
CA407412251 rs1156534487 |
53 | T>S | No |
ClinGen gnomAD |
|
CA9640193 rs777701697 |
56 | I>V | No |
ClinGen ExAC gnomAD |
|
RCV000415865 CA16043864 rs1057519215 |
58 | G>D | No |
ClinGen ClinVar TOPMed dbSNP |
|
CA407412378 rs1057519215 |
58 | G>V | No |
ClinGen TOPMed |
|
rs757275226 CA9640213 |
65 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs1392327578 CA407412581 |
68 | V>D | No |
ClinGen TOPMed |
|
rs1599938583 RCV000992814 |
70 | S>missing | No |
ClinVar dbSNP |
|
CA407412632 rs1277716410 |
72 | V>L | No |
ClinGen gnomAD |
|
RCV000713003 CA407412660 rs1568749767 |
74 | H>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
rs929413725 CA310080013 |
75 | R>* | No |
ClinGen TOPMed |
|
rs386134160 RCV000713004 CA407412689 |
77 | C>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1000915 CA407412712 rs1215874943 |
79 | E>K | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA407412781 rs1185290761 |
84 | E>K | No |
ClinGen gnomAD |
|
CA407413366 rs1599938680 RCV000992816 |
85 | C>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001174598 rs2068615098 |
88 | A>V | No |
ClinVar dbSNP |
|
CA407413434 rs1158041481 |
90 | K>N | No |
ClinGen TOPMed |
|
RCV001200248 CA407413483 rs1402720098 |
95 | D>N | No |
ClinGen ClinVar dbSNP gnomAD |
|
CA407414077 rs1599942975 |
96 | D>A | No |
ClinGen Ensembl |
|
CA407414126 rs1599943003 |
103 | F>S | No |
ClinGen Ensembl |
|
CA407414131 rs1555806994 |
104 | R>C | No |
ClinGen Ensembl |
|
rs778658981 CA9640266 |
106 | H>Y | No |
ClinGen ExAC |
|
CA310082510 rs148207688 |
112 | T>I | No |
ClinGen ESP |
|
RCV000487805 rs1064797249 CA16621745 |
115 | D>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
rs1568752907 RCV000713006 CA407414247 |
121 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001288725 rs2068657289 |
121 | L>missing | No |
ClinVar dbSNP |
|
CA9640269 rs773086126 |
122 | Y>D | No |
ClinGen ExAC gnomAD |
|
rs1218081459 CA407414268 |
125 | V>L | No |
ClinGen TOPMed |
|
rs1568752939 CA407414288 RCV000713007 |
128 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
rs760542938 CA9640270 |
130 | K>N | No |
ClinGen ExAC gnomAD |
|
CA9640271 rs386134166 |
131 | C>S | No |
ClinGen ExAC gnomAD |
|
rs867162725 CA310082631 |
133 | C>* | No |
ClinGen gnomAD |
|
CA407414337 rs867162725 |
133 | C>W | No |
ClinGen gnomAD |
|
RCV001288727 rs2068659442 |
134 | C>F | No |
ClinVar dbSNP |
|
CA407414360 rs1447444989 |
136 | M>I | No |
ClinGen gnomAD |
|
rs2068659547 RCV001091269 |
137 | N>Y | No |
ClinVar dbSNP |
|
rs386134168 CA9640291 |
138 | V>A | No |
ClinGen ExAC gnomAD |
|
RCV000517141 CA407414371 rs1192424800 |
138 | V>M | No |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000517893 rs1555807019 CA407414375 |
139 | H>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
rs770016586 CA407414384 |
140 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9640292 rs770016586 |
140 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1455406486 CA407414383 |
140 | R>W | No |
ClinGen gnomAD |
|
rs1172771303 CA407414400 |
143 | V>M | No |
ClinGen TOPMed |
|
rs868826262 CA310082644 |
147 | P>S | No |
ClinGen Ensembl |
|
CA407414443 rs1599943341 RCV000992819 |
150 | C>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
CA9640296 rs375936680 |
151 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA407414452 rs1383224987 |
151 | G>S | No |
ClinGen gnomAD |
|
rs1304701232 CA407414485 |
156 | E>Q | No |
ClinGen gnomAD |
|
rs1231344379 CA407414494 |
157 | R>H | No |
ClinGen gnomAD |
|
CA407414505 rs1599943390 RCV000992820 |
159 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
rs866406014 RCV000490213 CA407414503 |
159 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
CA310082655 rs866406014 |
159 | G>W | No |
ClinGen Ensembl |
|
RCV000503811 CA407414512 RCV000713008 rs1555807032 |
160 | R>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
CA407414527 rs1351526694 |
163 | L>V | No |
ClinGen gnomAD |
|
rs1246087299 CA407414534 |
164 | E>* | No |
ClinGen TOPMed gnomAD |
|
rs1194011459 CA407414539 |
164 | E>D | No |
ClinGen gnomAD |
|
rs1246087299 CA407414532 |
164 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs1469824304 CA407414537 |
164 | E>V | No |
ClinGen gnomAD |
|
CA407414545 rs1252158483 RCV000713009 |
165 | I>M | No |
ClinGen ClinVar dbSNP gnomAD |
|
CA310082660 rs1037739543 |
165 | I>S | No |
ClinGen TOPMed |
|
CA310082662 rs866776958 |
166 | R>L | No |
ClinGen gnomAD |
|
CA407414548 rs866776958 |
166 | R>Q | No |
ClinGen gnomAD |
|
CA407414554 rs557782511 |
167 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9640301 rs557782511 |
167 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA407414562 rs1452404762 |
169 | T>A | No |
ClinGen gnomAD |
|
rs994753416 CA310082670 |
170 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs1443767012 CA407414580 |
172 | E>K | No |
ClinGen gnomAD |
|
CA310082673 rs189397138 |
173 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1225328929 CA407414589 |
173 | I>V | No |
ClinGen gnomAD |
|
CA407414595 rs777612378 |
174 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407414603 rs1327850541 COSM3707372 |
175 | V>L | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs757104918 CA9640306 |
176 | T>S | No |
ClinGen ExAC gnomAD |
|
rs1241245039 CA407414797 |
177 | V>A | No |
ClinGen TOPMed |
|
rs768891031 CA9640337 |
178 | G>V | No |
ClinGen ExAC gnomAD |
|
rs1281980751 CA407414815 |
179 | E>K | No |
ClinGen gnomAD |
|
rs1209505101 CA407414841 |
181 | R>C | No |
ClinGen gnomAD |
|
rs1209505101 CA407414843 |
181 | R>G | No |
ClinGen gnomAD |
|
CA407414845 rs1235252410 COSM1564240 |
181 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA407414931 rs1188835881 |
188 | P>A | No |
ClinGen gnomAD |
|
rs3745406 CA9640338 |
189 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1420610335 CA407414948 |
189 | N>S | No |
ClinGen gnomAD |
|
rs773693506 CA9640339 |
191 | L>F | No |
ClinGen ExAC |
|
rs1322657222 CA407415028 |
195 | Y>C | No |
ClinGen gnomAD |
|
rs1167148835 CA407415020 |
195 | Y>N | No |
ClinGen gnomAD |
|
rs1341122223 CA407415079 |
199 | K>R | No |
ClinGen TOPMed |
|
rs1357532887 CA407415126 |
203 | D>N | No |
ClinGen TOPMed gnomAD |
|
COSM1737663 CA310083290 rs1057247994 |
204 | P>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated Ensembl |
CA9640342 rs777151978 |
204 | P>S | No |
ClinGen ExAC gnomAD |
|
rs762399754 CA9640343 COSM2929211 |
205 | R>Q | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA225972 RCV000084801 rs367543208 |
205 | R>W | No |
ClinGen ClinVar dbSNP gnomAD |
|
CA407415177 rs1432628558 |
207 | L>R | No |
ClinGen gnomAD |
|
rs763673985 CA310083298 |
208 | T>M | No |
ClinGen ExAC gnomAD |
|
rs763673985 CA9640344 |
208 | T>R | No |
ClinGen ExAC gnomAD |
|
rs1359818869 CA407415208 |
210 | Q>* | No |
ClinGen TOPMed |
|
CA9640346 rs373274609 |
210 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs750289253 CA9640349 |
213 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs115832790 CA9640350 RCV000713011 |
213 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs754958643 CA9640352 |
214 | T>A | No |
ClinGen ExAC gnomAD |
|
CA9640353 rs372532968 |
214 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1185360542 CA407415325 |
220 | N>D | No |
ClinGen TOPMed |
|
rs377341042 CA9640357 |
226 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9640358 rs747415891 |
227 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs367543209 CA225975 RCV000084802 |
228 | V>A | No |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
CA9640359 rs771305921 |
228 | V>M | No |
ClinGen ExAC gnomAD |
|
rs781604452 CA9640376 |
230 | N>I | No |
ClinGen ExAC gnomAD |
|
rs1568754923 CA407416087 |
230 | N>K | No |
ClinGen Ensembl |
|
rs746343646 CA9640377 |
231 | L>M | No |
ClinGen ExAC gnomAD |
|
rs1295616296 CA407416099 |
232 | K>E | No |
ClinGen gnomAD |
|
CA407416154 RCV000992823 rs1599945617 |
236 | V>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
CA310087585 rs932630780 |
238 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA9640382 rs760409355 |
239 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA407416215 rs1161186262 |
241 | S>R | No |
ClinGen gnomAD |
|
rs1398372035 CA407416219 |
242 | V>M | No |
ClinGen TOPMed gnomAD |
|
CA407416273 RCV000997006 rs1599945675 |
246 | D>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
rs1307000573 CA407416309 |
248 | D>G | No |
ClinGen gnomAD |
|
rs1416084216 CA407416319 |
249 | R>Q | No |
ClinGen gnomAD |
|
CA407416317 RCV000517026 rs1180121813 |
249 | R>W | No |
ClinGen ClinVar dbSNP gnomAD |
|
CA407416326 rs1599945687 |
250 | T>P | No |
ClinGen Ensembl |
|
CA9640388 rs758442836 |
252 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM84547 CA407416356 rs764159841 |
252 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs764159841 CA9640389 |
252 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9640391 rs757533070 |
254 | D>E | No |
ClinGen ExAC gnomAD |
|
CA9640392 rs781514514 |
255 | F>L | No |
ClinGen ExAC gnomAD |
|
CA9640393 rs746283322 |
258 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1568755048 CA407416448 |
259 | M>V | No |
ClinGen Ensembl |
|
rs1599945724 CA407416473 |
260 | S>Y | No |
ClinGen Ensembl |
|
CA310087609 rs997551051 |
263 | V>I | No |
ClinGen gnomAD |
|
CA310087612 rs1051433718 |
264 | S>L | No |
ClinGen gnomAD |
|
CA407416565 rs1387921740 |
268 | K>Q | No |
ClinGen gnomAD |
|
CA9640395 rs201204984 |
269 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9640398 rs375466358 |
271 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
RCV000992825 CA9640399 rs375466358 |
271 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1332750340 CA407416626 |
273 | G>C | No |
ClinGen gnomAD |
|
CA407416752 rs1208062006 |
275 | Y>C | No |
ClinGen gnomAD |
|
rs1408771379 CA407416866 |
283 | G>S | No |
ClinGen TOPMed |
|
CA9640428 rs766753334 |
287 | N>S | No |
ClinGen ExAC gnomAD |
|
CA225987 RCV000084806 rs367543213 |
288 | V>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000518101 rs376704133 CA407416959 |
289 | P>L | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs376704133 CA9640429 |
289 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA310088067 rs867807004 |
289 | P>S | No |
ClinGen Ensembl |
|
CA407416985 rs1294543042 |
292 | D>H | No |
ClinGen TOPMed gnomAD |
|
CA407416987 rs1294543042 |
292 | D>N | No |
ClinGen TOPMed gnomAD |
|
rs753281804 CA9640431 |
293 | A>T | No |
ClinGen ExAC gnomAD |
|
rs369758267 CA9640433 |
296 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs745516902 CA9640434 |
298 | L>F | No |
ClinGen ExAC gnomAD |
|
CA9640435 rs769377000 |
299 | L>H | No |
ClinGen ExAC gnomAD |
|
rs1286344243 CA407417081 |
299 | L>I | No |
ClinGen gnomAD |
|
rs749041380 CA9640437 |
300 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407417112 rs1282635707 |
301 | K>* | No |
ClinGen gnomAD |
|
CA407417210 rs1259011347 |
304 | A>S | No |
ClinGen gnomAD |
|
CA407417222 rs1568755831 |
305 | C>G | No |
ClinGen Ensembl |
|
rs748951148 CA9640455 |
307 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA9640457 rs778748565 COSM1396172 |
308 | P>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs748064443 CA9640458 |
309 | L>V | No |
ClinGen ExAC gnomAD |
|
CA407417262 rs1391007553 |
310 | E>D | No |
ClinGen gnomAD |
|
CA9640460 rs773315203 |
312 | Y>H | No |
ClinGen ExAC gnomAD |
|
CA9640483 rs776905536 |
314 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746063136 CA9640484 |
315 | V>L | No |
ClinGen ExAC gnomAD |
|
rs149973611 CA9640485 |
316 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs775882143 CA9640486 |
317 | M>L | No |
ClinGen ExAC gnomAD |
|
CA9640487 rs775882143 |
317 | M>V | No |
ClinGen ExAC gnomAD |
|
CA407417327 rs1159779556 |
319 | P>R | No |
ClinGen gnomAD |
|
RCV000084807 rs367543214 RCV001814973 CA225990 |
319 | P>T | No |
ClinGen ClinVar ESP TOPMed dbSNP |
|
CA9640490 rs762450570 |
324 | I>L | No |
ClinGen ExAC gnomAD |
|
rs765862905 CA9640491 |
324 | I>N | No |
ClinGen ExAC gnomAD |
|
rs753396301 CA9640492 |
325 | P>A | No |
ClinGen ExAC gnomAD |
|
CA310090763 rs145197557 RCV001288729 |
325 | P>L | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
CA407417373 rs1568758455 |
327 | P>L | No |
ClinGen Ensembl |
|
rs1386023782 CA407417377 |
328 | S>F | No |
ClinGen TOPMed |
|
CA9640494 rs764834047 |
329 | P>S | No |
ClinGen ExAC gnomAD |
|
rs866786305 CA310090769 |
331 | P>S | No |
ClinGen Ensembl |
|
CA9640495 rs752420624 |
332 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1222412936 CA407417403 |
333 | D>N | No |
ClinGen gnomAD |
|
CA407417412 rs758073710 |
334 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1452362194 CA407417414 |
334 | P>R | No |
ClinGen gnomAD |
|
rs758073710 CA9640496 |
334 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777632488 CA9640497 |
335 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407417428 rs1245250025 |
336 | R>L | No |
ClinGen gnomAD |
|
rs1196352127 CA407417429 |
337 | C>R | No |
ClinGen TOPMed |
|
CA407417432 rs1490160311 |
337 | C>Y | No |
ClinGen TOPMed |
|
CA310090781 rs962210135 |
338 | F>C | No |
ClinGen Ensembl |
|
rs751435795 CA9640498 |
339 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs79382266 CA310090790 |
340 | G>W | No |
ClinGen gnomAD |
|
rs1247445382 CA407417461 |
341 | A>V | No |
ClinGen TOPMed |
|
CA9640500 rs781385191 |
342 | S>C | No |
ClinGen ExAC gnomAD |
|
CA9640501 rs745899619 |
342 | S>N | No |
ClinGen ExAC gnomAD |
|
rs149157968 CA9640503 |
343 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA407417468 rs1359724204 |
343 | P>T | No |
ClinGen TOPMed |
|
rs566297370 CA9640504 |
345 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs566297370 CA310090802 |
345 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA9640505 rs768896658 |
346 | L>P | No |
ClinGen ExAC gnomAD |
|
CA9640506 rs774838031 |
349 | S>C | No |
ClinGen ExAC gnomAD |
|
RCV000992810 rs762206157 CA9640507 |
352 | S>N | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs762206157 CA9640508 |
352 | S>T | No |
ClinGen ExAC gnomAD |
|
rs1334391585 CA407417543 |
355 | M>L | No |
ClinGen TOPMed |
|
CA407417595 rs1331262028 |
359 | K>R | No |
ClinGen TOPMed |
|
RCV001268877 rs2068730966 |
361 | S>N | No |
ClinVar dbSNP |
|
CA407417616 RCV000517423 rs121918517 |
361 | S>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
CA9640521 rs749459672 |
366 | M>I | No |
ClinGen ExAC gnomAD |
|
rs780245480 CA9640520 |
366 | M>V | No |
ClinGen ExAC gnomAD |
|
rs1441828760 CA407417768 |
368 | A>T | No |
ClinGen gnomAD |
|
rs1181464568 CA407417811 |
371 | R>T | No |
ClinGen gnomAD |
|
rs768973808 CA9640522 |
374 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1187516612 CA407417915 |
383 | K>Q | No |
ClinGen gnomAD |
|
rs779116953 CA9640523 |
386 | V>M | No |
ClinGen ExAC gnomAD |
|
CA407417951 rs748505394 |
388 | V>I | No |
ClinGen ExAC gnomAD |
|
rs748505394 CA9640524 |
388 | V>L | No |
ClinGen ExAC gnomAD |
|
rs1414999642 CA407417976 |
391 | D>G | No |
ClinGen TOPMed |
|
rs773655248 CA9640527 |
394 | D>N | No |
ClinGen ExAC gnomAD |
|
rs773655248 CA407417995 |
394 | D>Y | No |
ClinGen ExAC gnomAD |
|
rs1021607059 CA310091066 |
395 | C>G | No |
ClinGen TOPMed |
|
COSM1287388 rs1165667637 RCV001755769 RCV000518497 CA407418021 |
398 | V>L | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
CA407418020 rs1165667637 COSM1287388 |
398 | V>L | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated TOPMed |
RCV001288718 rs2068734193 |
399 | E>Q | No |
ClinVar dbSNP |
|
CA407418043 rs1367827846 |
401 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA9640528 rs747522330 |
403 | L>P | No |
ClinGen ExAC gnomAD |
|
rs769292201 CA9640529 |
404 | A>S | No |
ClinGen ExAC gnomAD |
|
CA310091078 rs1046092381 |
406 | G>E | No |
ClinGen TOPMed |
|
rs1447405737 CA407418068 |
406 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs762479860 CA9640531 |
407 | G>S | No |
ClinGen ExAC gnomAD |
|
CA407418076 rs1599949888 |
407 | G>V | No |
ClinGen Ensembl |
|
CA9640533 rs62637711 |
408 | R>W | No |
ClinGen ExAC gnomAD |
|
rs1207949925 CA407418082 RCV000992811 |
409 | G>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
rs1259210743 CA407418085 |
409 | G>V | No |
ClinGen gnomAD |
|
rs1198868288 CA407418092 |
410 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA407418105 rs1313302986 |
413 | R>W | No |
ClinGen TOPMed |
|
CA9640536 rs750379261 |
415 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA407418131 rs1174879071 |
417 | L>F | No |
ClinGen gnomAD |
|
CA310091104 rs969141483 |
418 | T>I | No |
ClinGen Ensembl |
|
CA9640537 rs756176940 |
421 | H>R | No |
ClinGen ExAC gnomAD |
|
rs1599949945 CA407418171 |
423 | T>P | No |
ClinGen Ensembl |
|
CA407418201 rs753992324 |
427 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753992324 CA9640539 |
427 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1382993812 CA407418199 |
427 | P>S | No |
ClinGen gnomAD |
|
CA407418225 rs1254663078 |
429 | R>H | No |
ClinGen TOPMed |
|
rs747331856 CA9640562 |
433 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407418280 rs1273218014 |
437 | V>L | No |
ClinGen gnomAD |
|
CA407418291 rs1381333921 |
439 | G>R | No |
ClinGen gnomAD |
|
CA407418324 rs1396379441 |
443 | M>I | No |
ClinGen gnomAD |
|
rs1311765439 CA407418335 |
445 | H>N | No |
ClinGen gnomAD |
|
CA407418363 rs1340803242 |
448 | Q>H | No |
ClinGen gnomAD |
|
CA9640567 rs778623561 |
448 | Q>L | No |
ClinGen ExAC gnomAD |
|
rs778623561 CA407418361 |
448 | Q>P | No |
ClinGen ExAC gnomAD |
|
rs1250110558 CA407418380 |
451 | K>R | No |
ClinGen gnomAD |
|
rs1182737267 CA407418393 |
453 | K>E | No |
ClinGen gnomAD |
|
rs1599951443 CA407418395 |
453 | K>T | No |
ClinGen Ensembl |
|
CA407418403 rs1568760129 |
454 | E>A | No |
ClinGen Ensembl |
|
CA407418407 rs548392105 |
454 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA407418409 rs1442953933 |
455 | P>A | No |
ClinGen TOPMed gnomAD |
|
CA407418408 rs1442953933 |
455 | P>T | No |
ClinGen TOPMed gnomAD |
|
rs771892093 COSM1681343 CA9640569 |
456 | H>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1442155032 CA407418415 COSM1712760 |
456 | H>Y | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
CA9640570 rs773029795 |
458 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1472615562 CA407418453 |
460 | Y>H | No |
ClinGen gnomAD |
|
CA9640595 COSM1000933 rs749266717 |
461 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA310092176 rs756533117 |
465 | A>S | No |
ClinGen ExAC gnomAD |
|
CA9640600 rs756533117 |
465 | A>T | No |
ClinGen ExAC gnomAD |
|
CA407418493 rs1266612029 |
466 | I>T | No |
ClinGen gnomAD |
|
rs1172209951 CA407418500 |
467 | G>A | No |
ClinGen TOPMed |
|
rs1044351933 CA310092181 |
467 | G>S | No |
ClinGen gnomAD |
|
rs1398783758 CA407418505 |
468 | L>P | No |
ClinGen gnomAD |
|
rs1350175702 CA407418512 |
469 | F>S | No |
ClinGen gnomAD |
|
rs756534989 CA310092215 |
477 | I>V | No |
ClinGen gnomAD |
|
rs1252277952 CA407418636 |
485 | N>S | No |
ClinGen TOPMed |
|
CA407418640 rs1436023041 |
486 | V>M | No |
ClinGen gnomAD |
|
rs891317967 CA310092319 |
490 | A>T | No |
ClinGen Ensembl |
|
CA9640623 rs756810096 |
491 | E>K | No |
ClinGen ExAC gnomAD |
|
CA407418783 rs780647467 COSM1646960 |
505 | N>K | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA9640626 rs745537039 |
506 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755896158 CA407418804 |
507 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1265866750 CA407418800 |
507 | F>S | No |
ClinGen gnomAD |
|
CA310092391 rs865820315 |
509 | G>E | No |
ClinGen Ensembl |
|
CA310092387 rs964697337 |
509 | G>R | No |
ClinGen gnomAD |
|
rs964697337 CA407418822 |
509 | G>R | No |
ClinGen gnomAD |
|
CA9640628 rs749199519 |
510 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9640630 rs774376490 |
511 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407418853 rs1336500466 |
512 | T>A | No |
ClinGen gnomAD |
|
CA9640631 rs748128173 |
513 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1452419424 CA407418869 |
513 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs2068757477 RCV001288721 |
518 | T>I | No |
ClinVar dbSNP |
|
rs1462968827 CA407418945 |
519 | P>L | No |
ClinGen TOPMed |
|
CA407418974 rs1202130595 |
521 | Y>C | No |
ClinGen gnomAD |
|
CA407419548 rs1307567632 |
527 | I>V | No |
ClinGen gnomAD |
|
CA9640657 rs763570173 |
528 | A>V | No |
ClinGen ExAC gnomAD |
|
CA310093958 rs891427415 |
529 | Y>H | No |
ClinGen TOPMed |
|
rs749975147 CA9640659 |
531 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9640660 rs760208247 |
536 | V>I | No |
ClinGen ExAC gnomAD |
|
CA9640661 rs753502785 |
541 | F>C | No |
ClinGen ExAC gnomAD |
|
CA407419740 rs1195527322 |
553 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA407419745 rs1342866443 |
554 | P>S | No |
ClinGen gnomAD |
|
CA407419763 rs1599954407 RCV000992812 |
556 | D>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
rs769165690 CA310094936 |
556 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769165690 CA9640680 |
556 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763956622 CA407419784 |
559 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9640682 rs760120162 |
560 | E>G | No |
ClinGen ExAC gnomAD |
|
CA407419787 rs1384915664 |
560 | E>Q | No |
ClinGen gnomAD |
|
CA407419806 rs1172639116 |
562 | E>G | No |
ClinGen gnomAD |
|
rs1419736241 CA407419870 |
571 | T>A | No |
ClinGen TOPMed |
|
rs1453157990 CA407419886 |
573 | T>I | No |
ClinGen TOPMed gnomAD |
|
CA310094951 rs79609076 |
576 | K>N | No |
ClinGen TOPMed |
|
rs1599954478 CA407419920 |
579 | S>P | No |
ClinGen Ensembl |
|
rs41275818 RCV001091271 CA9640688 |
580 | R>Q | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001288722 COSM1318260 rs149266855 CA9640687 |
580 | R>W | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs1053831444 CA310094963 |
582 | A>S | No |
ClinGen TOPMed |
|
CA407419968 rs1242697294 |
587 | K>E | No |
ClinGen gnomAD |
|
CA407419977 rs1568762863 |
588 | G>E | No |
ClinGen Ensembl |
|
CA9640691 rs781476930 |
588 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1341360593 CA407419993 |
589 | F>L | No |
ClinGen TOPMed |
|
rs1344294925 CA407420006 |
591 | T>A | No |
ClinGen gnomAD |
|
rs1568764306 CA407420050 |
597 | R>H | No |
ClinGen Ensembl |
|
rs1447790637 CA407420070 |
601 | G>R | No |
ClinGen TOPMed |
|
rs1336523588 CA407420076 |
602 | P>S | No |
ClinGen TOPMed |
|
CA310095881 rs202029274 |
603 | D>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
CA9640708 rs138962503 |
605 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9640709 rs757306588 |
607 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA310095889 rs1031815043 |
608 | I>V | No |
ClinGen Ensembl |
|
CA310095891 rs1025622193 |
609 | R>C | No |
ClinGen TOPMed |
|
CA407420121 rs1188281451 |
609 | R>H | No |
ClinGen gnomAD |
|
CA407420132 rs1490480074 |
611 | H>Y | No |
ClinGen gnomAD |
|
rs866037592 CA310095894 |
612 | G>D | No |
ClinGen Ensembl |
|
rs1198556294 CA407420138 |
612 | G>S | No |
ClinGen gnomAD |
|
CA407420160 rs368825946 |
615 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs780263973 CA9640713 |
615 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407420161 rs780263973 |
615 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
RCV000499835 CA407420196 rs1177582167 |
620 | E>K | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs367543218 CA407420206 |
621 | R>P | No |
ClinGen TOPMed |
|
rs367543218 CA226002 RCV000084811 |
621 | R>Q | No |
ClinGen ClinVar TOPMed dbSNP |
|
CA9640715 rs755332117 |
623 | E>G | No |
ClinGen ExAC gnomAD |
|
rs1365634675 CA407420221 |
624 | R>* | No |
ClinGen gnomAD |
|
CA310095959 rs146367309 |
624 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
RCV000937814 RCV001288724 rs146367309 CA9640716 |
624 | R>Q | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs545521865 CA310095961 |
627 | I>S | No |
ClinGen Ensembl |
|
rs1380883447 CA407420246 |
628 | P>S | No |
ClinGen TOPMed |
|
CA407420253 rs1348706772 |
629 | P>L | No |
ClinGen gnomAD |
|
CA310095970 rs1023224300 |
632 | R>S | No |
ClinGen Ensembl |
|
CA9640717 rs748632675 |
632 | R>T | No |
ClinGen ExAC gnomAD |
|
rs980400591 CA310095988 |
634 | R>C | No |
ClinGen Ensembl |
|
CA407420283 rs1238280713 |
634 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs1238280713 CA407420285 |
634 | R>L | No |
ClinGen TOPMed gnomAD |
|
rs1360248213 CA407420290 |
635 | P>R | No |
ClinGen TOPMed gnomAD |
|
rs1407058714 CA407420320 |
638 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs768380642 CA9640741 |
638 | R>H | No |
ClinGen ExAC gnomAD |
|
CA407420331 rs1332498109 |
640 | G>S | No |
ClinGen gnomAD |
|
CA310096151 rs386134172 |
643 | F>S | No |
ClinGen Ensembl |
|
rs774167982 CA9640742 |
645 | K>T | No |
ClinGen ExAC gnomAD |
|
rs1231756180 CA407420394 |
648 | T>R | No |
ClinGen TOPMed |
|
rs1350675060 CA407420398 |
649 | R>Q | No |
ClinGen TOPMed |
|
RCV000084813 rs367543220 CA226008 |
650 | A>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
rs1599956863 CA407420404 COSM1396180 |
650 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
CA9640744 rs200755592 |
651 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs773196309 CA9640745 |
653 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9640746 rs760587847 |
653 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1599956911 CA407420426 |
655 | T>P | No |
ClinGen Ensembl |
|
CA310096187 rs971756470 |
659 | R>H | No |
ClinGen gnomAD |
|
CA9640751 rs752933837 VAR_008758 |
659 | R>S | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
CA9640752 rs758699586 |
660 | L>V | No |
ClinGen ExAC gnomAD |
|
CA407420461 rs1201979210 |
661 | V>L | No |
ClinGen gnomAD |
|
CA407420469 RCV000517660 rs1555808814 |
662 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
rs778052415 CA9640753 |
664 | S>I | No |
ClinGen ExAC gnomAD |
|
rs1467585543 CA407420496 |
666 | D>E | No |
ClinGen TOPMed |
|
rs373369366 CA9640755 |
666 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1401300094 CA407420501 |
667 | Q>P | No |
ClinGen gnomAD |
|
RCV002221549 rs1375924761 RCV000518722 |
669 | D>missing | No |
ClinVar dbSNP |
|
rs1167417075 CA407420516 |
669 | D>G | No |
ClinGen TOPMed |
|
CA9640757 rs748770167 |
669 | D>H | No |
ClinGen ExAC gnomAD |
|
rs768288302 CA9640758 |
672 | G>D | No |
ClinGen ExAC gnomAD |
|
CA9640759 rs778652037 |
678 | P>A | No |
ClinGen ExAC gnomAD |
|
rs1344606686 CA407420588 |
679 | D>E | No |
ClinGen gnomAD |
|
rs1599956992 CA407420583 |
679 | D>Y | No |
ClinGen Ensembl |
|
CA407420592 rs1230884397 |
680 | F>Y | No |
ClinGen gnomAD |
|
CA407420606 rs1599957015 |
682 | H>P | No |
ClinGen Ensembl |
|
rs376516192 CA310096204 |
684 | D>N | No |
ClinGen ESP TOPMed |
|
rs770722155 CA9640764 |
686 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407420630 rs770722155 |
686 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765311269 CA9640767 |
689 | T>P | No |
ClinGen ExAC |
|
rs78437096 CA9640768 |
692 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs78437096 CA407420670 |
692 | V>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9640769 rs764500243 |
694 | V>A | No |
ClinGen ExAC gnomAD |
|
rs1281590143 CA407420691 |
696 | V>A | No |
ClinGen TOPMed |
|
CA407420702 rs1158020271 |
698 | M>Q | No |
ClinGen gnomAD |
No associated diseases with P05129
Functions
11 GO annotations of cellular component
Name | Definition |
---|---|
calyx of Held | The terminal specialization of a calyciferous axon which forms large synapses in the mammalian auditory central nervous system. |
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. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
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. |
perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
postsynaptic cytosol | The region of the cytosol consisting of all cytosol that is part of the postsynapse. |
postsynaptic density | An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components. |
presynaptic cytosol | The region of the cytosol consisting of all cytosol that is part of the presynapse. |
synaptic membrane | A specialized area of membrane on either the presynaptic or the postsynaptic side of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell. |
8 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. |
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. |
protein serine/threonine/tyrosine kinase activity | Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
zinc ion binding | Binding to a zinc ion (Zn). |
25 GO annotations of biological process
Name | Definition |
---|---|
chemical synaptic transmission | The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
chemosensory behavior | Behavior that is dependent upon the sensation of chemicals. |
innervation | The process in which a nerve invades a tissue and makes functional synaptic connection within the tissue. |
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. |
learning or memory | The acquisition and processing of information and/or the storage and retrieval of this information over time. |
long-term synaptic potentiation | A process that modulates synaptic plasticity such that synapses are changed resulting in the increase in the rate, or frequency of synaptic transmission at the synapse. |
negative regulation of neuron apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons. |
negative regulation of proteasomal protein catabolic process | Any process that stops, prevents or reduces the frequency, rate or extent of proteasomal protein catabolic process. |
negative regulation of protein catabolic process | Any process that stops, prevents or reduces the frequency, rate or extent of protein catabolic process. |
negative regulation of protein ubiquitination | Any process that stops, prevents, or reduces the frequency, rate or extent of the addition of ubiquitin groups to a protein. |
peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
phosphorylation | The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. |
positive regulation of mismatch repair | Any process that activates or increases the frequency, rate or extent of mismatch repair. |
presynaptic modulation of chemical synaptic transmission | Any process, acting in the presynapse that results in modulation of chemical synaptic transmission. |
protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
protein phosphorylation | The process of introducing a phosphate group on to a protein. |
regulation of circadian rhythm | Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours. |
regulation of phagocytosis | Any process that modulates the frequency, rate or extent of phagocytosis, the process in which phagocytes engulf external particulate material. |
regulation of response to food | Any process that modulates the frequency, rate or extent of a response to a food stimulus. |
regulation of synaptic vesicle exocytosis | Any process that modulates the frequency, rate or extent of synaptic vesicle exocytosis. |
response to morphine | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a morphine stimulus. Morphine is an opioid alkaloid, isolated from opium, with a complex ring structure. |
response to pain | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a pain stimulus. Pain stimuli cause activation of nociceptors, peripheral receptors for pain, include receptors which are sensitive to painful mechanical stimuli, extreme heat or cold, and chemical stimuli. |
response to psychosocial stress | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of exposure to aversive or demanding psychological and social conditions that tax or exceed the behavioral resources of the organism. |
response to toxic substance | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxic stimulus. |
rhythmic process | Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism. |
40 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 |
P04409 | PRKCA | Protein kinase C alpha type | Bos taurus (Bovine) | EV SS |
P05126 | PRKCB | Protein kinase C beta type | Bos taurus (Bovine) | SS |
P05128 | PRKCG | Protein kinase C gamma type | Bos taurus (Bovine) | SS |
P13677 | inaC | Protein kinase C, eye isozyme | Drosophila melanogaster (Fruit fly) | SS |
P05130 | Pkc53E | Protein kinase C, brain isozyme | Drosophila melanogaster (Fruit fly) | SS |
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 |
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 |
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 |
P20444 | Prkca | Protein kinase C alpha type | Mus musculus (Mouse) | SS |
P68404 | Prkcb | Protein kinase C beta type | Mus musculus (Mouse) | SS |
P63318 | Prkcg | Protein kinase C gamma type | Mus musculus (Mouse) | SS |
P16054 | Prkce | Protein kinase C epsilon type | Mus musculus (Mouse) | PR |
P23298 | Prkch | Protein kinase C eta type | Mus musculus (Mouse) | PR |
P05696 | Prkca | Protein kinase C alpha type | Rattus norvegicus (Rat) | SS |
P68403 | Prkcb | Protein kinase C beta type | Rattus norvegicus (Rat) | SS |
P63319 | Prkcg | Protein kinase C gamma type | Rattus norvegicus (Rat) | SS |
Q64617 | Prkch | Protein kinase C eta type | Rattus norvegicus (Rat) | 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 |
A8KBH6 | prkcb | Protein kinase C beta type | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | SS |
Q7SY24 | prkcbb | Protein kinase C beta type | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MAGLGPGVGD | SEGGPRPLFC | RKGALRQKVV | HEVKSHKFTA | RFFKQPTFCS | HCTDFIWGIG |
70 | 80 | 90 | 100 | 110 | 120 |
KQGLQCQVCS | FVVHRRCHEF | VTFECPGAGK | GPQTDDPRNK | HKFRLHSYSS | PTFCDHCGSL |
130 | 140 | 150 | 160 | 170 | 180 |
LYGLVHQGMK | CSCCEMNVHR | RCVRSVPSLC | GVDHTERRGR | LQLEIRAPTA | DEIHVTVGEA |
190 | 200 | 210 | 220 | 230 | 240 |
RNLIPMDPNG | LSDPYVKLKL | IPDPRNLTKQ | KTRTVKATLN | PVWNETFVFN | LKPGDVERRL |
250 | 260 | 270 | 280 | 290 | 300 |
SVEVWDWDRT | SRNDFMGAMS | FGVSELLKAP | VDGWYKLLNQ | EEGEYYNVPV | ADADNCSLLQ |
310 | 320 | 330 | 340 | 350 | 360 |
KFEACNYPLE | LYERVRMGPS | SSPIPSPSPS | PTDPKRCFFG | ASPGRLHISD | FSFLMVLGKG |
370 | 380 | 390 | 400 | 410 | 420 |
SFGKVMLAER | RGSDELYAIK | ILKKDVIVQD | DDVDCTLVEK | RVLALGGRGP | GGRPHFLTQL |
430 | 440 | 450 | 460 | 470 | 480 |
HSTFQTPDRL | YFVMEYVTGG | DLMYHIQQLG | KFKEPHAAFY | AAEIAIGLFF | LHNQGIIYRD |
490 | 500 | 510 | 520 | 530 | 540 |
LKLDNVMLDA | EGHIKITDFG | MCKENVFPGT | TTRTFCGTPD | YIAPEIIAYQ | PYGKSVDWWS |
550 | 560 | 570 | 580 | 590 | 600 |
FGVLLYEMLA | GQPPFDGEDE | EELFQAIMEQ | TVTYPKSLSR | EAVAICKGFL | TKHPGKRLGS |
610 | 620 | 630 | 640 | 650 | 660 |
GPDGEPTIRA | HGFFRWIDWE | RLERLEIPPP | FRPRPCGRSG | ENFDKFFTRA | APALTPPDRL |
670 | 680 | 690 | |||
VLASIDQADF | QGFTYVNPDF | VHPDARSPTS | PVPVPVM |