P10398
PR
Gene name |
ARAF (ARAF1, PKS, PKS2) |
Protein name |
Serine/threonine-protein kinase A-Raf |
Names |
Proto-oncogene A-Raf, Proto-oncogene A-Raf-1, Proto-oncogene Pks |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:369 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
Protein Class |
|
Descriptions
(Annotation based on sequence homology with P04049)
Raf proteins are Ras-regulated serine/threonine protein kinases that control the activation of the ERK/MARK cascade, and consists of three isoforms, A-Raf, B-Raf, and Raf-1 (C-Raf). When the catalytic domain of Raf-1 is expressed alone, it exhibits a constitutive activity. Raf-1 is regulated by an N-terminal autoinhibitory domain including Ras binding domain (RBD) and cysteine-rich domain (CRD). The autoinhibitory region blocks the catalytic kinase domain and the autoinhibition is interrupted by the interaction with active PAK1 or Src.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
446-471 (Activation loop from InterPro)
Target domain |
310-570 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
3 structures for P10398
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1WXM | NMR | - | A | 19-91 | PDB |
| 2MSE | NMR | - | D | 19-91 | PDB |
| AF-P10398-F1 | Predicted | AlphaFoldDB |
301 variants for P10398
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000421117 rs1057519876 RCV000438348 RCV000428557 COSM1742787 CA16602806 |
214 | S>A | biliary_tract Lung adenocarcinoma Papillary renal cell carcinoma, sporadic Malignant melanoma of skin [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1057519786 RCV000430187 RCV000427514 RCV000419218 CA16602595 RCV000436910 |
214 | S>C | Variant assessed as Somatic; impact. Non-small cell lung carcinoma Lung adenocarcinoma Papillary renal cell carcinoma, sporadic Malignant melanoma of skin [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1057519786 RCV000435898 RCV000429142 COSM612884 RCV000417875 CA16602805 |
214 | S>F | lung Variant assessed as Somatic; impact. Lung adenocarcinoma Papillary renal cell carcinoma, sporadic Malignant melanoma of skin [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA412810358 rs1376896677 |
4 | P>R | No |
ClinGen gnomAD |
|
|
CA412810355 rs1159713948 |
4 | P>S | No |
ClinGen gnomAD |
|
|
rs1048525052 CA329050340 |
5 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA10397910 rs767772118 |
5 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10397911 rs776073253 |
10 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA329050373 rs62636603 |
12 | A>G | No |
ClinGen Ensembl |
|
|
CA412810409 rs1603042042 |
13 | E>D | No |
ClinGen Ensembl |
|
|
rs749564014 CA10397914 COSM422555 |
13 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10397916 rs765492001 |
16 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10397915 rs201871676 |
16 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1235882605 CA412810428 |
17 | A>S | No |
ClinGen gnomAD |
|
|
rs750598176 CA412810433 |
18 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750598176 CA10397917 |
18 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779656098 CA10397919 |
21 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA10397920 rs746987091 |
22 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs1431755155 CA412810477 |
25 | L>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 28 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1121831 rs1398289359 CA412810513 |
30 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA412810520 rs1444450941 |
31 | T>M | No |
ClinGen gnomAD |
|
|
rs975645936 CA329050603 |
34 | T>I | No |
ClinGen gnomAD |
|
|
rs1283082877 CA412810581 |
36 | R>G | No |
ClinGen TOPMed |
|
|
CA412810611 rs1210265001 |
38 | G>R | No |
ClinGen TOPMed |
|
|
rs781331960 CA10397939 |
39 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA412810677 rs1292396776 |
42 | Y>C | No |
ClinGen gnomAD |
|
|
CA412810687 rs1569319031 |
43 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA329050631 rs11551157 |
44 | S>F | No |
ClinGen Ensembl |
|
|
rs922510408 CA329050652 |
51 | V>A | No |
ClinGen TOPMed |
|
|
rs1214099265 CA412810801 |
51 | V>L | No |
ClinGen gnomAD |
|
|
rs140920401 CA329050674 |
52 | R>Q | No |
ClinGen ESP gnomAD |
|
|
rs777093232 CA10397942 |
53 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA412810967 rs1413219188 |
63 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1410667957 CA412811126 |
68 | R>L | No |
ClinGen gnomAD |
|
|
rs1410667957 CA412811130 |
68 | R>Q | No |
ClinGen gnomAD |
|
|
rs958658251 CA329051712 |
69 | K>R | No |
ClinGen TOPMed |
|
|
rs199527940 CA10397961 |
70 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs756771141 CA10397963 |
71 | V>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 76 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412811226 rs1375497019 |
77 | A>T | No |
ClinGen gnomAD |
|
|
CA412811236 rs1225438833 |
78 | I>T | No |
ClinGen TOPMed |
|
|
CA10397965 rs745515941 |
84 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 84 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10397967 rs781486338 |
95 | P>Q | No |
ClinGen ExAC |
|
|
rs56197559 VAR_040375 CA329051792 |
98 | M>T | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA412811475 rs1235697211 |
99 | H>D | No |
ClinGen gnomAD |
|
|
rs1169298813 CA412811492 |
100 | N>D | No |
ClinGen TOPMed |
|
|
rs758004948 CA10397983 |
102 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1275641708 CA412811578 |
103 | R>W | No |
ClinGen TOPMed |
|
|
rs1263984758 CA412811604 |
105 | T>A | No |
ClinGen gnomAD |
|
|
CA412811682 rs779648831 |
110 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10397985 rs779648831 |
110 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA329051943 rs936264056 |
113 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 116 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756483901 CA10397987 |
119 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA329051951 rs62636600 |
124 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1267267075 CA412811921 |
127 | T>S | No |
ClinGen gnomAD |
|
|
CA10397988 rs778205718 |
129 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA412812090 rs1199774765 |
139 | K>R | No |
ClinGen gnomAD |
|
|
rs749734176 CA10397989 |
142 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs770926246 CA10397990 |
146 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA10397991 rs774526444 |
150 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774526444 CA329051991 |
150 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746126878 CA10397992 |
151 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1121833 rs1321474185 CA412812254 |
151 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs779536112 CA10398008 |
153 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1297302820 CA412812361 |
154 | F>I | No |
ClinGen gnomAD |
|
|
rs113512925 CA329052177 |
156 | H>Y | No |
ClinGen Ensembl |
|
|
rs745997765 CA10398009 |
157 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA10398011 rs775921012 |
163 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10398012 rs375468186 |
164 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 166 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412812898 rs1244085978 |
166 | R>K | No |
ClinGen gnomAD |
|
|
rs146376823 CA10398014 |
166 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10398015 rs761480447 |
167 | Q>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs139093707 CA10398018 |
170 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs184861193 CA10398019 |
170 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA329052179 rs1036402369 |
171 | P>A | No |
ClinGen Ensembl |
|
|
rs371247311 CA10398020 |
172 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761931410 CA10398022 |
174 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA412812981 rs1387037979 |
174 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 176 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1157943860 CA412812998 |
176 | L>V | No |
ClinGen gnomAD |
|
|
CA10398025 rs779625869 |
179 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1290871003 CA412813042 |
180 | L>V | No |
ClinGen gnomAD |
|
|
CA10398026 rs143159753 |
181 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs958730062 CA329052223 |
184 | G>S | No |
ClinGen TOPMed |
|
|
CA10398040 rs752282820 CA412813164 |
186 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA10398041 rs147086204 |
187 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138292173 CA10398042 |
188 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10398044 COSM757195 rs777037087 |
188 | R>H | lung Variant assessed as Somatic; 0.0 impact. breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA10398043 rs138292173 |
188 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10398046 rs751707690 |
190 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs954175243 CA329053084 |
190 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA10398047 rs372462744 |
191 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412813219 rs1323645938 |
192 | C>Y | No |
ClinGen gnomAD |
|
|
CA412813236 rs1197389088 CA412813237 |
193 | D>E | No |
ClinGen gnomAD |
|
|
CA10398048 rs781542979 |
194 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780758789 CA10398050 |
200 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs961102008 CA329053113 |
203 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA412813342 rs1470345765 |
205 | A>D | No |
ClinGen gnomAD |
|
|
rs1357153379 CA412813345 |
206 | P>S | No |
ClinGen TOPMed |
|
|
rs774136414 CA10398054 |
208 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA412813368 rs1299239597 |
210 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs923182352 CA329053170 |
211 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 212 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 215 | T>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 218 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412813414 rs1345707414 |
218 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1217509562 CA412813424 |
219 | H>R | No |
ClinGen gnomAD |
|
|
CA412813459 rs775214073 |
222 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10398057 rs775214073 |
222 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412813488 rs1237333549 |
225 | A>D | No |
ClinGen TOPMed |
|
|
CA412813487 rs1482489991 |
225 | A>S | No |
ClinGen TOPMed |
|
|
CA412813502 rs1205210476 |
226 | P>L | No |
ClinGen gnomAD |
|
|
rs1489802148 CA412813507 |
227 | M>K | No |
ClinGen gnomAD |
|
| TCGA novel | 227 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747850611 CA10398059 |
227 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200575485 CA412813522 |
228 | D>N | No |
ClinGen Ensembl |
|
|
rs773749825 CA10398060 |
230 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1271359830 CA412813557 |
231 | L>R | No |
ClinGen gnomAD |
|
|
CA412813561 rs1449280704 |
232 | I>L | No |
ClinGen TOPMed |
|
|
rs368024349 CA10398061 |
232 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771625964 CA10398075 |
235 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA412813660 rs1187147586 |
238 | S>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs746691883 CA10398077 |
238 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10398078 rs148802221 |
239 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758229241 CA10398092 |
245 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA412813767 rs1456413377 |
246 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 247 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412813840 rs1349543733 |
253 | T>N | No |
ClinGen TOPMed |
|
|
rs996853683 CA329053514 |
253 | T>P | No |
ClinGen Ensembl |
|
|
CA10398094 rs746574967 |
254 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs768276363 CA10398097 |
255 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10398095 rs1020990103 |
255 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA329053623 rs919593802 |
256 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA412813857 rs1409736677 |
256 | G>R | No |
ClinGen gnomAD |
|
|
CA412813879 rs1175260065 |
257 | S>I | No |
ClinGen gnomAD |
|
|
rs747694131 CA10398099 |
261 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA10398100 COSM4149063 rs142304168 |
262 | S>I | ovary [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA412813975 rs1281123703 |
263 | V>A | No |
ClinGen gnomAD |
|
|
rs1439786171 COSM1121835 CA412813969 |
263 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA329053671 rs200151563 |
264 | S>Y | No |
ClinGen 1000Genomes |
|
|
rs1229309673 CA412814003 |
265 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10398104 rs775966352 |
268 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1321520435 CA412814054 |
268 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 268 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA329053681 rs923151586 |
270 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA10398105 rs760815147 |
270 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764098004 CA10398106 |
271 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 271 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10398107 rs754104664 |
274 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs761893348 CA10398108 |
278 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1285071641 CA412814198 |
278 | Q>L | No |
ClinGen TOPMed |
|
|
CA10398109 rs765113993 |
279 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA329053728 rs1046676785 |
279 | R>H | No |
ClinGen TOPMed |
|
|
rs780206875 CA10398112 |
280 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145939962 CA10398111 |
280 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10398114 rs754549302 |
281 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10398113 rs372763934 |
281 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 282 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1330804484 CA412814284 |
283 | S>F | No |
ClinGen gnomAD |
|
|
rs747863271 CA10398118 |
285 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA10398117 rs747863271 |
285 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA10398120 rs376276271 |
286 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10398121 rs140123739 |
287 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA412814412 rs1266127841 |
290 | K>Q | No |
ClinGen TOPMed |
|
|
CA10398122 rs775984740 |
291 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA412814524 rs1325945121 |
292 | K>M | No |
ClinGen gnomAD |
|
|
CA10398133 CA10398134 rs781240605 |
293 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412814548 rs1272463628 |
294 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 296 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755638812 CA10398135 |
297 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA10398136 rs371146151 |
301 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412814733 rs1274776968 |
305 | V>I | No |
ClinGen gnomAD |
|
|
rs780348121 CA10398139 |
306 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412814765 rs1260531101 |
307 | P>S | No |
ClinGen gnomAD |
|
|
rs1177553817 CA412814815 |
309 | E>D | No |
ClinGen TOPMed |
|
|
rs994460893 CA329053903 |
311 | Q>H | No |
ClinGen TOPMed |
|
|
rs143311445 CA10398140 |
312 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 315 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412814930 rs1198480394 |
315 | R>T | No |
ClinGen TOPMed |
|
|
CA329053909 rs151191170 |
316 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412814957 rs1161562116 |
317 | G>R | No |
ClinGen gnomAD |
|
|
rs777175765 CA10398142 COSM1121837 |
318 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA412814982 rs1164055186 |
319 | G>C | No |
ClinGen gnomAD |
|
|
CA329053945 rs368279563 |
321 | F>L | No |
ClinGen ESP TOPMed |
|
|
rs773318953 CA10398145 |
324 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA412815111 rs1452639448 |
326 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA412815115 rs1313544010 |
326 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs766305105 CA10398147 |
328 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA329053973 rs200106543 |
328 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| VAR_040376 | 331 | G>C | a colorectal adenocarcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
rs774324085 CA10398148 |
332 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 334 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1206503276 CA412815254 |
335 | V>M | No |
ClinGen gnomAD |
|
|
rs1291075891 CA412815286 |
336 | K>R | No |
ClinGen TOPMed |
|
|
CA412815306 rs1421001199 |
337 | V>A | No |
ClinGen TOPMed |
|
|
rs1460482466 CA412815334 |
339 | K>E | No |
ClinGen gnomAD |
|
|
rs752678087 CA10398151 |
340 | V>M | No |
ClinGen ExAC gnomAD |
|
|
COSM109804 rs150568726 CA329053978 |
345 | A>G | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA412815481 rs1180766366 |
348 | A>T | No |
ClinGen gnomAD |
|
|
CA10398153 rs763604914 |
349 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA10398155 rs756864414 |
353 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA412815632 rs1335317844 |
357 | V>L | No |
ClinGen gnomAD |
|
|
rs763548006 CA10398170 |
361 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs756741810 CA10398172 |
362 | R>* | No |
ClinGen ExAC |
|
|
rs1481493209 CA412816014 |
372 | F>Y | No |
ClinGen gnomAD |
|
|
rs145056294 CA10398177 |
375 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10398176 rs755308260 |
375 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA412816064 rs1320336824 |
376 | P>L | No |
ClinGen gnomAD |
|
|
CA412816096 rs1433830281 |
380 | I>T | No |
ClinGen gnomAD |
|
|
rs778119620 CA10398181 |
383 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1363597646 CA412816183 |
385 | C>Y | No |
ClinGen gnomAD |
|
|
rs749435690 CA412816218 |
387 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA10398182 rs749435690 |
387 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA10398183 rs771127790 |
388 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA412816309 rs1309073789 |
392 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA412816307 rs1309073789 |
392 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1462354021 CA412816420 |
398 | D>N | No |
ClinGen Ensembl |
|
|
rs754803899 CA10398185 |
400 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs764255925 CA10398186 |
400 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764255925 CA412816462 |
400 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760360817 CA10398188 |
403 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 404 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 404 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1194986687 CA412816561 |
405 | Q>H | No |
ClinGen TOPMed |
|
|
CA412816600 rs1483547801 |
408 | D>N | No |
ClinGen TOPMed |
|
|
CA329054911 rs959306158 |
411 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA412816652 rs1290811116 |
411 | R>W | No |
ClinGen gnomAD |
|
|
rs1466145372 CA412816839 |
419 | Y>C | No |
ClinGen gnomAD |
|
|
CA329055005 rs978219080 |
423 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 423 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10398205 rs780121164 |
428 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA412816985 rs1183909266 |
428 | R>L | No |
ClinGen gnomAD |
|
|
rs1183909266 CA412816981 |
428 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 431 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1212825155 CA412817807 |
435 | I>V | No |
ClinGen gnomAD |
|
|
rs373018619 CA10398221 |
444 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10398222 rs750570398 |
445 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10398224 rs780392848 |
456 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs754787460 CA10398226 |
459 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 461 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747904029 CA10398228 |
463 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs769771152 CA10398229 |
465 | Q>H | No |
ClinGen ExAC |
|
| TCGA novel | 469 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1157121224 CA412818237 |
478 | I>F | No |
ClinGen TOPMed |
|
|
rs11551158 CA329055521 |
479 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA412818251 rs11551158 |
479 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1415064804 CA412818300 |
483 | P>L | No |
ClinGen TOPMed |
|
|
rs1339247916 CA412818296 |
483 | P>S | No |
ClinGen gnomAD |
|
|
rs1474543275 CA412818340 |
487 | S>G | No |
ClinGen TOPMed |
|
|
rs1277297558 CA412818343 |
487 | S>N | No |
ClinGen gnomAD |
|
|
CA412818356 rs1343302524 |
488 | F>Y | No |
ClinGen gnomAD |
|
|
CA329055538 rs1050133 |
489 | Q>* | No |
ClinGen Ensembl |
|
|
rs1452862239 CA412818387 |
491 | D>H | No |
ClinGen gnomAD |
|
|
CA10398244 rs755229896 |
492 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213294212 CA412818543 |
505 | G>V | No |
ClinGen TOPMed |
|
| TCGA novel | 510 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1130962 CA329055553 |
511 | H>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 512 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777769604 CA10398248 |
513 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs749120411 CA10398249 |
513 | G>V | No |
ClinGen ExAC |
|
|
CA329055569 rs969755578 |
515 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs773696719 CA10398251 |
515 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745341869 CA10398252 |
517 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs377675069 CA10398272 |
524 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766573991 CA10398274 |
526 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371017890 CA10398273 |
526 | Y>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs779859676 CA10398275 |
531 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10398276 rs746605740 |
534 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1569321394 CA412819064 |
536 | S>G | No |
ClinGen Ensembl |
|
|
CA412819091 rs1603047873 |
537 | N>S | No |
ClinGen Ensembl |
|
|
CA329055933 rs768342528 |
542 | M>T | No |
ClinGen Ensembl |
|
|
CA10398278 rs773486607 |
543 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10398279 COSM1121848 rs763351013 |
544 | R>C | endometrium Variant assessed as Somatic; 6.336e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA10398280 rs771396364 |
544 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA329055960 rs866481390 |
551 | K>R | No |
ClinGen Ensembl |
|
|
rs979276829 CA329055963 |
554 | R>Q | No |
ClinGen gnomAD |
|
|
CA329055961 rs947894890 |
554 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs759617144 CA10398282 |
555 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs760847926 CA10398285 |
562 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 565 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 567 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412819632 rs1488217404 |
572 | R>Q | No |
ClinGen gnomAD |
|
|
CA412819630 rs1275541592 |
572 | R>W | No |
ClinGen gnomAD |
|
|
rs1189502973 CA412819656 |
574 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1189502973 CA412819651 |
574 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs759985490 CA10398301 |
575 | P>T | No |
ClinGen ExAC |
|
|
CA412819683 rs1603048615 |
576 | K>E | No |
ClinGen Ensembl |
|
|
CA329056272 rs979213297 |
576 | K>R | No |
ClinGen Ensembl |
|
|
VAR_040377 CA10398303 rs55852926 RCV000924352 |
578 | E>D | No |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
COSM457561 rs764281834 CA10398305 |
579 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 580 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA329056285 rs866243975 |
581 | A>T | No |
ClinGen Ensembl |
|
|
CA412819846 rs1168869454 |
588 | R>C | No |
ClinGen gnomAD |
|
|
rs776912006 CA10398306 |
588 | R>H | No |
ClinGen ExAC |
|
|
rs750411643 CA412820043 |
602 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs750411643 CA10398311 |
602 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1228819643 CA412820051 |
603 | R>C | No |
ClinGen gnomAD |
No associated diseases with P10398
9 regional properties for P10398
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 310 - 570 | IPR000719 |
| domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 311 - 565 | IPR001245 |
| domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | 98 - 145 | IPR002219 |
| domain | Raf-like Ras-binding | 19 - 91 | IPR003116 |
| active_site | Serine/threonine-protein kinase, active site | 425 - 437 | IPR008271 |
| binding_site | Protein kinase, ATP binding site | 316 - 336 | IPR017441 |
| domain | Diacylglycerol/phorbol-ester binding | 96 - 110 | IPR020454-1 |
| domain | Diacylglycerol/phorbol-ester binding | 112 - 132 | IPR020454-2 |
| domain | Diacylglycerol/phorbol-ester binding | 133 - 145 | IPR020454-3 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| MAP kinase kinase kinase activity | Catalysis of the phosphorylation and activation of a MAP kinase kinase; each MAP kinase kinase can be phosphorylated by any of several MAP kinase kinase kinases. |
| metal ion binding | Binding to a metal ion. |
| protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
| protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
| protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| MAPK cascade | An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. |
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of peptidyl-serine phosphorylation | Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-serine. |
| protein modification process | The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of proteasomal ubiquitin-dependent protein catabolic process | Any process that modulates the frequency, rate or extent of the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome. |
| regulation of TOR signaling | Any process that modulates the frequency, rate or extent of TOR signaling. |
21 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A7E3S4 | RAF1 | RAF proto-oncogene serine/threonine-protein kinase | Bos taurus (Bovine) | SS |
| Q04982 | BRAF | Serine/threonine-protein kinase B-raf | Gallus gallus (Chicken) | SS |
| P05625 | RAF1 | RAF proto-oncogene serine/threonine-protein kinase | Gallus gallus (Chicken) | PR |
| P11346 | Raf | Raf homolog serine/threonine-protein kinase Raf | Drosophila melanogaster (Fruit fly) | PR |
| O43353 | RIPK2 | Receptor-interacting serine/threonine-protein kinase 2 | Homo sapiens (Human) | PR |
| Q02779 | MAP3K10 | Mitogen-activated protein kinase kinase kinase 10 | Homo sapiens (Human) | SS |
| P80192 | MAP3K9 | Mitogen-activated protein kinase kinase kinase 9 | Homo sapiens (Human) | SS |
| Q16584 | MAP3K11 | Mitogen-activated protein kinase kinase kinase 11 | Homo sapiens (Human) | EV |
| Q13418 | ILK | Integrin-linked protein kinase | Homo sapiens (Human) | PR |
| P04049 | RAF1 | RAF proto-oncogene serine/threonine-protein kinase | Homo sapiens (Human) | EV |
| P15056 | BRAF | Serine/threonine-protein kinase B-raf | Homo sapiens (Human) | EV |
| Q8NB16 | MLKL | Mixed lineage kinase domain-like protein | Homo sapiens (Human) | EV |
| P28028 | Braf | Serine/threonine-protein kinase B-raf | Mus musculus (Mouse) | SS |
| Q99N57 | Raf1 | RAF proto-oncogene serine/threonine-protein kinase | Mus musculus (Mouse) | SS |
| P04627 | Araf | Serine/threonine-protein kinase A-Raf | Mus musculus (Mouse) | PR |
| O19004 | ARAF | Serine/threonine-protein kinase A-Raf | Sus scrofa (Pig) | PR |
| P11345 | Raf1 | RAF proto-oncogene serine/threonine-protein kinase | Rattus norvegicus (Rat) | SS |
| P14056 | Araf | Serine/threonine-protein kinase A-Raf | Rattus norvegicus (Rat) | PR |
| Q07292 | lin-45 | Raf homolog serine/threonine-protein kinase | Caenorhabditis elegans | PR |
| Q05609 | CTR1 | Serine/threonine-protein kinase CTR1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FPR3 | EDR1 | Serine/threonine-protein kinase EDR1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEPPRGPPAN | GAEPSRAVGT | VKVYLPNKQR | TVVTVRDGMS | VYDSLDKALK | VRGLNQDCCV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VYRLIKGRKT | VTAWDTAIAP | LDGEELIVEV | LEDVPLTMHN | FVRKTFFSLA | FCDFCLKFLF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HGFRCQTCGY | KFHQHCSSKV | PTVCVDMSTN | RQQFYHSVQD | LSGGSRQHEA | PSNRPLNELL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TPQGPSPRTQ | HCDPEHFPFP | APANAPLQRI | RSTSTPNVHM | VSTTAPMDSN | LIQLTGQSFS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TDAAGSRGGS | DGTPRGSPSP | ASVSSGRKSP | HSKSPAEQRE | RKSLADDKKK | VKNLGYRDSG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YYWEVPPSEV | QLLKRIGTGS | FGTVFRGRWH | GDVAVKVLKV | SQPTAEQAQA | FKNEMQVLRK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TRHVNILLFM | GFMTRPGFAI | ITQWCEGSSL | YHHLHVADTR | FDMVQLIDVA | RQTAQGMDYL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| HAKNIIHRDL | KSNNIFLHEG | LTVKIGDFGL | ATVKTRWSGA | QPLEQPSGSV | LWMAAEVIRM |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QDPNPYSFQS | DVYAYGVVLY | ELMTGSLPYS | HIGCRDQIIF | MVGRGYLSPD | LSKISSNCPK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| AMRRLLSDCL | KFQREERPLF | PQILATIELL | QRSLPKIERS | ASEPSLHRTQ | ADELPACLLS |
| AARLVP |