P15056
EV
Gene name |
BRAF |
Protein name |
Serine/threonine-protein kinase B-raf |
Names |
Proto-oncogene B-Raf, p94, v-Raf murine sarcoma viral oncogene homolog B1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:673 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
Protein Class |
SERINE-THREONINE PROTEIN KINASE (PTHR23257) |
Descriptions
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), which exhibit a high degree of homology within three conserved regions (CR) known as CR1, CR2, and CR3. In Raf’s autoinhibited conformation, the N-terminal tail, Ras binding domain (RBD), cysteine-rich domain (CRD), and linker together with its Ser/Thr-rich segment prevent kinase domain dimerization. The RBD-CRD region is CR1 and the Ser/Thr-rich region is CR2. In active membrane-anchored Raf, RBD interacts with Ras, and CRD binds to the membrane. Two events are expected to regulate the release of B-Raf autoinhibition: dephosphorylation of pSer365 and release of RBD-CRD from the kinase domain. Full Raf activation requires KD dimerization. Ras recruits Raf to the membrane, gathering Raf proteins through dimers or nanoclusters. The high affinity of Ras-Raf-RBD interaction, coupled with pSer365 dephosphorylation, disrupts the autoinhibited B-Raf states, thereby promoting full activation of Raf.
Autoinhibitory domains (AIDs)
Target domain |
457-717 (Protein kinase domain) |
Relief mechanism |
Partner binding, PTM |
Assay |
Deletion assay, Mutagenesis experiment, Structural analysis |
Accessory elements
593-618 (Activation loop from InterPro)
Target domain |
457-717 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Tran NH et al. (2005) "B-Raf and Raf-1 are regulated by distinct autoregulatory mechanisms", The Journal of biological chemistry, 280, 16244-53
- Zhang M et al. (2021) "B-Raf autoinhibition in the presence and absence of 14-3-3", Structure (London, England : 1993), 29, 768-777.e2
- Nussinov R et al. (2018) "Autoinhibition in Ras effectors Raf, PI3Kα, and RASSF5: a comprehensive review underscoring the challenges in pharmacological intervention", Biophysical reviews, 10, 1263-1282
- Hmitou I et al. (2007) "Differential regulation of B-raf isoforms by phosphorylation and autoinhibitory mechanisms", Molecular and cellular biology, 27, 31-43
- Hubbard SR (2004) "Oncogenic mutations in B-Raf: some losses yield gains", Cell, 116, 764-6
- Park E et al. (2019) "Architecture of autoinhibited and active BRAF-MEK1-14-3-3 complexes", Nature, 575, 545-550
Autoinhibited structure
Activated structure
113 structures for P15056
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1UWH | X-ray | 295 A | A/B | 448-723 | PDB |
| 1UWJ | X-ray | 350 A | A/B | 448-723 | PDB |
| 2FB8 | X-ray | 290 A | A/B | 445-723 | PDB |
| 2L05 | NMR | - | A | 149-232 | PDB |
| 3C4C | X-ray | 257 A | A/B | 444-721 | PDB |
| 3D4Q | X-ray | 280 A | A/B | 433-726 | PDB |
| 3IDP | X-ray | 270 A | A/B | 434-727 | PDB |
| 3II5 | X-ray | 279 A | A/B | 432-726 | PDB |
| 3NY5 | X-ray | 199 A | A/B/C/D | 153-237 | PDB |
| 3OG7 | X-ray | 245 A | A/B | 448-720 | PDB |
| 3PPJ | X-ray | 370 A | A/B | 432-726 | PDB |
| 3PPK | X-ray | 300 A | A/B | 432-726 | PDB |
| 3PRF | X-ray | 290 A | A/B | 432-726 | PDB |
| 3PRI | X-ray | 350 A | A/B | 432-726 | PDB |
| 3PSB | X-ray | 340 A | A/B | 433-726 | PDB |
| 3PSD | X-ray | 360 A | A/B | 433-726 | PDB |
| 3Q4C | X-ray | 320 A | A/B | 432-726 | PDB |
| 3Q96 | X-ray | 310 A | A/B | 446-727 | PDB |
| 3SKC | X-ray | 320 A | A/B | 432-726 | PDB |
| 3TV4 | X-ray | 340 A | A/B | 432-726 | PDB |
| 3TV6 | X-ray | 330 A | A/B | 432-726 | PDB |
| 4CQE | X-ray | 230 A | A/B | 448-723 | PDB |
| 4DBN | X-ray | 315 A | A/B | 445-726 | PDB |
| 4E26 | X-ray | 255 A | A/B | 432-726 | PDB |
| 4E4X | X-ray | 360 A | A/B | 432-726 | PDB |
| 4EHE | X-ray | 330 A | A/B | 432-726 | PDB |
| 4EHG | X-ray | 350 A | A/B | 432-726 | PDB |
| 4FC0 | X-ray | 295 A | A/B | 445-726 | PDB |
| 4FK3 | X-ray | 265 A | A/B | 444-723 | PDB |
| 4G9C | X-ray | 350 A | A/B | 432-726 | PDB |
| 4G9R | X-ray | 320 A | A/B | 432-726 | PDB |
| 4H58 | X-ray | 310 A | A/B/C | 448-722 | PDB |
| 4JVG | X-ray | 309 A | A/B/C/D | 444-723 | PDB |
| 4KSP | X-ray | 293 A | A/B | 445-726 | PDB |
| 4KSQ | X-ray | 330 A | A/B | 445-726 | PDB |
| 4MBJ | X-ray | 360 A | A/B | 432-723 | PDB |
| 4MNE | X-ray | 285 A | B/C/F/G | 432-726 | PDB |
| 4MNF | X-ray | 280 A | A/B | 432-736 | PDB |
| 4PP7 | X-ray | 340 A | A/B | 432-726 | PDB |
| 4R5Y | X-ray | 350 A | A/B | 444-723 | PDB |
| 4RZV | X-ray | 299 A | A/B | 443-723 | PDB |
| 4RZW | X-ray | 349 A | A/B | 443-723 | PDB |
| 4WO5 | X-ray | 283 A | A/B | 444-723 | PDB |
| 4XV1 | X-ray | 247 A | A/B | 444-705 | PDB |
| 4XV2 | X-ray | 250 A | A/B | 444-705 | PDB |
| 4XV3 | X-ray | 280 A | A/B | 444-705 | PDB |
| 4XV9 | X-ray | 200 A | A | 442-705 | PDB |
| 4YHT | X-ray | 305 A | A/B | 449-720 | PDB |
| 5C9C | X-ray | 270 A | A/B | 432-726 | PDB |
| 5CSW | X-ray | 266 A | A/B | 442-721 | PDB |
| 5CSX | X-ray | 251 A | A | 442-721 | PDB |
| 5CT7 | X-ray | 317 A | A/B | 445-723 | PDB |
| 5FD2 | X-ray | 289 A | A/B | 433-726 | PDB |
| 5HI2 | X-ray | 251 A | A | 444-737 | PDB |
| 5HID | X-ray | 250 A | A/B | 444-737 | PDB |
| 5HIE | X-ray | 300 A | A/B/C/D | 432-726 | PDB |
| 5ITA | X-ray | 195 A | A/B | 448-723 | PDB |
| 5J17 | NMR | - | A | 151-232 | PDB |
| 5J18 | NMR | - | A | 151-232 | PDB |
| 5J2R | NMR | - | A | 151-232 | PDB |
| 5JRQ | X-ray | 229 A | A/B | 448-723 | PDB |
| 5JSM | X-ray | 219 A | A/B/C/D | 448-723 | PDB |
| 5JT2 | X-ray | 270 A | A/B/C/D | 448-723 | PDB |
| 5VAL | X-ray | 226 A | A/B | 445-723 | PDB |
| 5VAM | X-ray | 210 A | A/B | 445-723 | PDB |
| 5VR3 | X-ray | 210 A | A | 36-114 | PDB |
| 5VYK | X-ray | 175 A | A/C | 36-110 | PDB |
| 6B8U | X-ray | 268 A | A/B | 445-723 | PDB |
| 6CAD | X-ray | 255 A | A/B | 444-723 | PDB |
| 6N0P | X-ray | 237 A | A/B | 449-721 | PDB |
| 6N0Q | X-ray | 204 A | A/B | 445-723 | PDB |
| 6NSQ | X-ray | 305 A | A/B | 444-723 | PDB |
| 6NYB | EM | 410 A | A | 1-766 | PDB |
| 6P3D | X-ray | 211 A | A | 448-721 | PDB |
| 6P7G | X-ray | 265 A | A/B/C/D | 448-723 | PDB |
| 6PP9 | X-ray | 259 A | A | 445-723 | PDB |
| 6Q0J | EM | 490 A | A/B | 1-766 | PDB |
| 6Q0K | EM | 680 A | A/B | 1-766 | PDB |
| 6Q0T | EM | 570 A | A/B | 1-766 | PDB |
| 6U2G | X-ray | 289 A | B | 432-726 | PDB |
| 6U2H | X-ray | 250 A | C/D | 447-735 | PDB |
| 6UAN | EM | 390 A | B/C | 1-766 | PDB |
| 6UUO | X-ray | 329 A | A/B | 444-723 | PDB |
| 6V2U | X-ray | 378 A | A/B | 445-723 | PDB |
| 6V2W | X-ray | 312 A | A | 445-723 | PDB |
| 6V34 | X-ray | 315 A | A/B | 448-721 | PDB |
| 6XAG | X-ray | 330 A | C/D | 447-735 | PDB |
| 6XFP | X-ray | 200 A | A | 442-721 | PDB |
| 6XLO | X-ray | 249 A | A/B | 442-721 | PDB |
| 7K0V | X-ray | 193 A | A/B/C/D | 444-723 | PDB |
| 7M0T | X-ray | 319 A | A | 445-723 | PDB |
| 7M0U | X-ray | 309 A | A | 445-723 | PDB |
| 7M0V | X-ray | 316 A | A | 445-723 | PDB |
| 7M0W | X-ray | 309 A | A | 445-723 | PDB |
| 7M0X | X-ray | 247 A | A | 445-723 | PDB |
| 7M0Y | X-ray | 345 A | A | 445-723 | PDB |
| 7M0Z | X-ray | 312 A | A | 445-723 | PDB |
| 7MFD | EM | 366 A | A | 1-766 | PDB |
| 7MFE | EM | 407 A | A | 1-766 | PDB |
| 7MFF | EM | 389 A | A/B | 1-766 | PDB |
| 7P3V | X-ray | 237 A | A/B | 448-719 | PDB |
| 7SHV | X-ray | 288 A | A/B | 432-726 | PDB |
| 7ZR0 | EM | 340 A | K | 1-766 | PDB |
| 7ZR5 | EM | 390 A | K | 1-766 | PDB |
| 7ZR6 | EM | 420 A | K | 1-766 | PDB |
| 8C7X | X-ray | 165 A | A/B | 444-721 | PDB |
| 8C7Y | X-ray | 165 A | A/B | 444-721 | PDB |
| 8DGS | EM | 430 A | A | 1-766 | PDB |
| 8DGT | EM | 390 A | A | 1-766 | PDB |
| 8F7O | X-ray | 354 A | A/B | 441-723 | PDB |
| 8F7P | X-ray | 274 A | A/B | 441-723 | PDB |
| 8QQG | X-ray | 298 A | A/B/C | 448-722 | PDB |
| AF-P15056-F1 | Predicted | AlphaFoldDB |
534 variants for P15056
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000692616 CA168218650 rs868441785 |
13 | E>D | RASopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA281924 rs397507455 RCV000654946 RCV000033266 |
14 | P>R | RASopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA4517045 rs746778122 RCV000702844 |
23 | M>K | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001196110 rs1818671266 |
23 | M>V | Cardiofaciocutaneous syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001703886 RCV000521017 RCV000037963 rs397516906 RCV001813340 CA135146 |
31 | A>G | Noonan syndrome and Noonan-related syndrome RASopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1424449802 CA369590099 RCV000824931 |
34 | A>V | Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs886042293 RCV001855096 RCV000339054 CA10604049 |
38 | A>V | RASopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000587988 rs1554412417 CA369587798 RCV001860135 |
69 | G>A | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000033272 CA281936 rs397507460 RCV001852669 |
109 | F>I | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000654944 rs766748977 CA4516980 |
120 | V>I | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000654945 RCV001329217 RCV001718803 RCV000764692 rs557241012 CA4516972 RCV000413361 |
146 | R>Q | Cardiofaciocutaneous syndrome 1 RASopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA281948 rs397507464 RCV000033276 RCV001852670 |
147 | S>G | RASopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA369593486 RCV001854118 RCV001159562 RCV001159563 RCV000597251 rs1258111302 |
157 | V>I | LEOPARD syndrome 3 Noonan syndrome 7 RASopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs746348396 CA4516947 RCV000467891 |
178 | R>Q | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1803936771 RCV001159561 RCV001159560 |
188 | R>T | LEOPARD syndrome 3 Noonan syndrome 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA183392 RCV000589318 rs727504571 RCV000155739 RCV001172270 RCV001813403 |
208 | I>V | Noonan syndrome and Noonan-related syndrome RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA369591186 RCV000987987 rs1586237312 |
215 | S>F | Cardiofaciocutaneous syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000807047 RCV000037953 rs387906660 CA261663 |
241 | T>K | Noonan syndrome 1 (ns1) Noonan syndrome 7 (ns7) RASopathy Noonan syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000211753 VAR_058620 RCV000022678 RCV000208540 RCV000545320 rs387906660 CA259660 RCV000515432 RCV000033281 |
241 | T>M | Noonan syndrome 1 (ns1) NS7 Cardiofaciocutaneous syndrome 1 Noonan syndrome 7 Noonan syndrome 7 (ns7) Noonan syndrome RASopathy Noonan syndrome 1 [Ensembl, UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs387906661 RCV000207516 RCV000211752 RCV000022681 RCV000055896 RCV000515363 RCV000654966 VAR_058621 RCV000022680 CA128663 |
241 | T>P | LEOPARD syndrome 3 Noonan syndrome with multiple lentigines Cardiofaciocutaneous syndrome 1 CFC1 and LPRD3 RASopathy Cardio-facio-cutaneous syndrome [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000208548 CA259663 RCV000022679 VAR_058622 RCV001703420 RCV000624512 rs387906660 |
241 | T>R | Noonan syndrome 1 (ns1) NS7 Noonan syndrome 7 Noonan syndrome 7 (ns7) Noonan syndrome 1 Inborn genetic diseases [Ensembl, UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
VAR_065171 CA280025 RCV000033282 rs397507465 RCV000037955 |
244 | T>P | Cardio-facio-cutaneous syndrome CFC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000033284 CA280029 RCV000688777 rs397507466 RCV000055897 RCV000037957 |
245 | L>F | Noonan syndrome with multiple lentigines RASopathy Cardio-facio-cutaneous syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000515291 RCV000171142 CA280027 RCV000469440 VAR_058623 RCV000033283 RCV000037956 rs397507466 |
245 | L>F | LEOPARD syndrome 3 Cardiofaciocutaneous syndrome 1 RASopathy Cardio-facio-cutaneous syndrome CFC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA279968 RCV000208416 RCV000678900 RCV000014998 VAR_026113 RCV000033285 rs180177034 RCV000235118 |
246 | A>P | Cardiofaciocutaneous syndrome 1 Noonan syndrome Cardio-facio-cutaneous syndrome CFC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs397507467 RCV001703443 CA281951 RCV000788011 |
247 | F>S | Noonan syndrome and Noonan-related syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000788008 RCV000037958 rs397516903 CA135140 RCV000339233 RCV000824912 |
247 | F>V | Noonan syndrome and Noonan-related syndrome Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000519768 RCV001813496 RCV000626860 CA369590811 rs1325951163 |
252 | R>P | Global developmental delay Noonan syndrome and Noonan-related syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs397507469 RCV000624665 RCV000212151 RCV000033288 CA280030 |
257 | Q>K | Noonan syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_026114 rs180177035 CA222583 |
257 | Q>R | Noonan syndrome 1 (ns1) CFC1 [Ensembl, UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
rs1586213318 RCV000987986 RCV002223256 CA369590760 |
260 | R>H | Cardiofaciocutaneous syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001193980 rs397507470 RCV000033290 CA281957 VAR_065172 |
262 | Q>K | RASopathy CFC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000208128 RCV000392102 RCV000824915 CA280033 RCV001852795 rs397516904 |
262 | Q>P | RASopathy Noonan syndrome Cardio-facio-cutaneous syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000205969 CA235367 RCV000157699 rs397516904 |
262 | Q>R | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001198879 rs1803104915 |
264 | C>missing | Cardiofaciocutaneous syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000736078 CA261666 rs397516905 RCV000037962 |
265 | G>R | Noonan syndrome RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000037964 CA135149 RCV000680283 rs397516907 RCV001813341 RCV000157821 |
323 | S>L | Noonan syndrome and Noonan-related syndrome RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA295908 RCV000157820 rs730880414 RCV001850193 |
323 | S>P | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001851275 CA4516860 COSM33964 RCV000482168 RCV001261042 rs368435578 |
326 | I>T | RASopathy Noonan syndrome large_intestine breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000462938 RCV000589220 rs775040765 CA4516861 COSM327154 |
326 | I>V | RASopathy haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001543118 RCV001856191 RCV000780969 CA168100947 rs1008080053 |
332 | T>I | RASopathy Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs863224722 RCV000198326 CA337830 |
341 | P>Q | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000404519 RCV000521672 RCV000342225 RCV000692862 CA4516829 rs201481342 |
342 | I>V | LEOPARD syndrome 3 Noonan syndrome 7 RASopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001164494 CA369589859 RCV001162453 rs1398817791 |
352 | D>E | LEOPARD syndrome 3 Noonan syndrome 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA4516822 RCV001162452 rs151308995 RCV001162451 |
356 | Q>E | LEOPARD syndrome 3 Noonan syndrome 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1801519948 RCV001197753 |
382 | L>F | Cardiofaciocutaneous syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001813490 RCV000521582 RCV001192587 CA4516796 rs545495379 |
384 | R>G | Noonan syndrome and Noonan-related syndrome RASopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1554401118 CA369589621 RCV000538939 |
386 | Q>R | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001865287 RCV000413389 RCV000764691 RCV001813468 rs577372072 CA4516795 |
389 | R>H | Cardiofaciocutaneous syndrome 1 Noonan syndrome and Noonan-related syndrome RASopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001162449 RCV002032500 RCV001162450 rs923739321 CA168091772 |
394 | S>P | LEOPARD syndrome 3 Noonan syndrome 7 RASopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001813439 rs760702929 CA4516778 RCV000297032 |
397 | G>C | Noonan syndrome and Noonan-related syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA369589542 RCV000654953 rs1554400237 |
397 | G>D | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA369589529 RCV000654934 rs1554400234 |
399 | S>F | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001261043 RCV001858510 rs199927105 CA4516776 RCV000852578 RCV001813554 |
402 | P>H | Noonan syndrome and Noonan-related syndrome Noonan syndrome RASopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001861863 rs199927105 CA168091744 RCV000678901 |
402 | P>R | RASopathy Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000764690 RCV000037910 CA135064 rs377093637 RCV001270774 |
413 | V>M | Noonan syndrome 7 Cardiofaciocutaneous syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001255637 rs1801030116 |
426 | R>T | Lip and oral cavity carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001858682 CA168091693 rs998233805 RCV000987985 |
437 | R>Q | Cardiofaciocutaneous syndrome 1 RASopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs121913371 RCV000435724 CA16602536 |
444 | R>W | Melanoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1554399925 RCV000659285 CA369588914 |
461 | Q>R | Cardiofaciocutaneous syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_018613 CA250632 RCV000014995 rs180177032 |
462 | R>I | Carcinoma of colon CRC [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_018614 rs180177033 RCV000014996 CA250634 |
463 | I>S | Carcinoma of colon CRC [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000714710 rs1562957000 CA369588903 |
463 | I>V | Noonan syndrome 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1562956929 RCV000736073 RCV001803961 |
463 | I>missing | RASopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121913348 RCV000824917 CA281965 RCV001807745 |
464 | G>A | Cardiofaciocutaneous syndrome 1 Cardio-facio-cutaneous syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_018615 RCV000033304 RCV000418719 RCV000436895 RCV001261044 RCV000844618 RCV000207512 RCV000014997 CA250636 rs121913348 |
464 | G>E | Neoplasm Carcinoma of colon CRC Noonan syndrome RASopathy B-cell chronic lymphocytic leukemia Cardio-facio-cutaneous syndrome [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA16042578 RCV000429423 RCV000413557 rs121913349 RCV000694211 |
464 | G>R | RASopathy Melanoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16602743 RCV000438268 RCV000427554 rs121913351 RCV000435402 RCV000418222 RCV000444041 VAR_018617 RCV000424689 RCV000444553 |
466 | G>A | Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma Melanoma Multiple myeloma melanoma Neoplasm of the large intestine Lung adenocarcinoma Malignant melanoma of skin [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000431475 RCV000442274 RCV000437081 CA16602535 rs121913351 VAR_018618 RCV000434755 RCV001861476 RCV000424079 RCV000443232 RCV000427285 |
466 | G>E | Squamous cell carcinoma of the head and neck RASopathy Squamous cell lung carcinoma Melanoma Multiple myeloma melanoma Neoplasm of the large intestine Lung adenocarcinoma Malignant melanoma of skin [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA135079 RCV000428876 rs121913353 RCV000037915 |
466 | G>R | Non-small cell lung carcinoma Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000424032 RCV000438708 VAR_018512 RCV000438953 RCV000037916 RCV000015001 RCV000429151 rs121913351 CA123647 RCV000421693 RCV000436576 |
466 | G>V | Squamous cell carcinoma of the head and neck LNCR Squamous cell lung carcinoma Multiple myeloma Non-small cell lung carcinoma Neoplasm of the large intestine Lung carcinoma Lung adenocarcinoma Malignant melanoma of skin [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
VAR_035096 CA357002 rs869025606 |
467 | S>A | CFC1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
rs397507473 VAR_035097 CA280002 RCV000037917 RCV000033305 |
468 | F>S | Cardio-facio-cutaneous syndrome CFC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs1057519720 RCV000429405 |
469 | G>L | Lung carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_018622 RCV000154398 RCV001813396 RCV000433832 rs121913357 CA180746 |
469 | G>R | NHL Noonan syndrome and Noonan-related syndrome Melanoma Non-small cell lung carcinoma [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000423124 rs121913357 RCV000439076 RCV001778653 RCV000421772 RCV000015004 RCV000428973 RCV000441999 RCV000433203 RCV000422506 CA123653 RCV000428425 RCV000033306 RCV000439657 |
469 | G>R | Non-Hodgkin lymphoma Squamous cell lung carcinoma Melanoma Multiple myeloma Neoplasm of the large intestine Lung adenocarcinoma Cardio-facio-cutaneous syndrome Prostate adenocarcinoma Malignant melanoma of skin [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057519720 RCV000421677 |
469 | G>S | Melanoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000037918 rs397516890 |
469 | G>missing | Non-small cell lung carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121913355 RCV000432393 CA123655 RCV000444131 RCV000439564 RCV000150210 RCV000439801 RCV000422572 RCV000440864 RCV000421485 RCV000419278 VAR_018620 RCV000432193 RCV000015005 RCV000430006 |
469 | G>A | Neoplasm Non-Hodgkin lymphoma Squamous cell lung carcinoma Multiple myeloma Non-small cell lung carcinoma Lung carcinoma Neoplasm of the large intestine Lung adenocarcinoma Prostate adenocarcinoma NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation Malignant melanoma of skin [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000824918 rs1586140436 |
469 | G>missing | Cardio-facio-cutaneous syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000033307 RCV000211748 RCV000424773 RCV000506575 rs121913355 RCV000434590 RCV000436804 RCV000427215 RCV000015008 RCV000437869 RCV000212152 RCV000419555 CA279970 RCV000427006 RCV000443381 VAR_018621 RCV000419576 |
469 | G>E | Cardiofaciocutaneous syndrome 1 RASopathy Squamous cell lung carcinoma CFC1 and colon cancer Melanoma Multiple myeloma Neoplasm of the large intestine Lung adenocarcinoma Prostate adenocarcinoma Cardio-facio-cutaneous syndrome Malignant melanoma of skin [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000436805 rs121913355 RCV000427987 RCV000445054 RCV000420102 RCV000435417 RCV000425868 CA135085 RCV000436583 VAR_040392 RCV000418480 RCV000430773 RCV000037919 |
469 | G>V | Neoplasm Squamous cell lung carcinoma Multiple myeloma Non-small cell lung carcinoma Neoplasm of the large intestine Lung adenocarcinoma Prostate adenocarcinoma a colorectal adenocarcinoma sample; somatic mutation Malignant melanoma of skin [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000824919 CA369588876 rs1586140512 |
470 | T>P | Cardio-facio-cutaneous syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000037920 CA261657 rs397516891 RCV000681421 |
470 | T>R | Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000654957 CA281968 rs121913376 RCV000033308 RCV000417719 |
471 | V>F | RASopathy Melanoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000438175 CA16602428 rs1057519719 |
472 | Y>C | Lung carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002051804 rs397516892 CA280004 RCV000037921 |
481 | A>E | Cardiofaciocutaneous syndrome 1 Cardio-facio-cutaneous syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA273507 rs727504375 RCV000154526 |
483 | K>N | Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA280055 RCV000150208 rs397507474 RCV001703444 |
483 | K>Q | Cardio-facio-cutaneous syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA369588493 RCV000824920 rs1586126581 RCV001856262 |
483 | K>T | RASopathy Cardio-facio-cutaneous syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000844617 RCV000154481 RCV001192586 CA280060 RCV000824921 VAR_026115 rs180177036 |
485 | L>F | Noonan syndrome RASopathy Cardio-facio-cutaneous syndrome CFC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000150207 CA280052 RCV000033311 RCV001813223 RCV001172275 rs397507475 |
485 | L>S | Noonan syndrome and Noonan-related syndrome RASopathy Cardio-facio-cutaneous syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000788814 RCV000037922 RCV001852794 RCV000622585 rs397516893 CA280007 |
487 | V>G | RASopathy Inborn genetic diseases Cardio-facio-cutaneous syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001253374 rs1800500908 |
492 | P>missing | Cardiofaciocutaneous syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs180177037 RCV000207517 CA279972 RCV000779848 RCV000015010 RCV001813210 VAR_026116 |
499 | K>E | Noonan syndrome and Noonan-related syndrome Cardiofaciocutaneous syndrome 1 RASopathy CFC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA281974 RCV001814021 RCV000207509 rs397507476 |
499 | K>N | Cardio-facio-cutaneous syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000824982 CA281976 VAR_058625 rs397507476 |
499 | K>N | Cardiofaciocutaneous syndrome 1 CFC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA369588395 rs180177037 RCV000824922 |
499 | K>Q | Costello syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000207518 VAR_026117 RCV000211750 RCV000414915 RCV000015012 rs180177039 CA279974 |
501 | E>G | Cardiofaciocutaneous syndrome 1 Pulmonic stenosis Cardio-facio-cutaneous syndrome CFC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000207513 RCV000033315 VAR_026118 rs180177038 RCV000015011 CA273130 |
501 | E>K | Cardiofaciocutaneous syndrome 1 RASopathy CFC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs180177038 RCV000037923 CA280010 |
501 | E>Q | Cardio-facio-cutaneous syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000033318 CA280013 RCV000037924 RCV001775071 rs180177039 RCV001852671 |
501 | E>V | Cardiofaciocutaneous syndrome 1 RASopathy Cardio-facio-cutaneous syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000697258 rs1562955153 |
502 | V>missing | RASopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA281980 RCV000033319 RCV000824923 rs397507477 |
505 | L>F | Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_058626 RCV001781616 CA354839 rs869025340 RCV000207510 |
525 | L>P | Noonan syndrome 7 CFC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000622500 rs869025340 CA369588212 RCV001532123 |
525 | L>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA250333 rs606231228 RCV000191066 RCV001781297 RCV000022682 RCV000208560 VAR_058627 |
531 | W>C | NS7 Noonan syndrome 7 Noonan syndrome 7 (ns7) RASopathy Noonan syndrome 1 [UniProt, ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000626038 rs397507478 CA281983 |
531 | W>L | Cardiofaciocutaneous syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA369588174 RCV000824993 rs397507478 |
531 | W>S | Noonan syndrome 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000703470 CA369587966 rs1562954580 |
548 | F>S | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10582465 RCV000231445 rs878854675 |
554 | I>T | RASopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000207514 rs397507480 CA280016 RCV000037927 RCV001813224 |
565 | D>E | Noonan syndrome and Noonan-related syndrome Cardio-facio-cutaneous syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000677114 RCV000824924 CA281986 RCV000033328 rs397507481 RCV001265848 |
574 | H>Q | Cardiofaciocutaneous syndrome 1 Inborn genetic diseases Cardio-facio-cutaneous syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397516894 RCV000999625 RCV000037928 CA280019 |
574 | H>Y | Cardio-facio-cutaneous syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000474979 CA279976 VAR_026119 RCV000033329 RCV000015013 rs180177040 RCV000211751 RCV000624854 |
581 | N>D | Cardiofaciocutaneous syndrome 1 RASopathy Cardio-facio-cutaneous syndrome Inborn genetic diseases CFC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000431645 RCV000441971 RCV000439352 RCV000433029 RCV000422257 rs180177040 CA284657 RCV000425037 |
581 | N>H | Ovarian serous cystadenocarcinoma Multiple myeloma Neoplasm of the large intestine Lung adenocarcinoma Papillary renal cell carcinoma, sporadic Malignant melanoma of skin [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397516895 RCV000524048 CA280022 RCV000037929 RCV000763165 |
581 | N>K | Cardiofaciocutaneous syndrome 1 Cardio-facio-cutaneous syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000430462 RCV000154399 RCV000432607 RCV000421956 rs121913370 RCV000429356 RCV000438933 RCV000440055 CA180747 VAR_040393 RCV000419529 RCV000440277 |
581 | N>S | Ovarian serous cystadenocarcinoma Melanoma Chronic myelogenous leukemia, BCR-ABL1 positive Multiple myeloma Non-small cell lung carcinoma Neoplasm of the large intestine Lung adenocarcinoma a colorectal adenocarcinoma sample; somatic mutation Papillary renal cell carcinoma, sporadic Malignant melanoma of skin [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001355069 RCV000419907 rs121913370 CA16602815 RCV000440655 RCV000430791 RCV000440423 RCV000429764 RCV000422334 |
581 | N>T | Ovarian serous cystadenocarcinoma Multiple myeloma Neoplasm of the large intestine Lung adenocarcinoma Papillary renal cell carcinoma, sporadic Malignant melanoma of skin [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000987984 CA369543331 rs1586015221 |
584 | L>F | Cardiofaciocutaneous syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000437874 VAR_018623 CA135092 RCV000419782 rs121913340 RCV000037930 |
586 | E>K | Neoplasm ovarian cancer Melanoma [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000434950 rs121913335 CA16602742 |
587 | D>A | Neoplasm [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16602740 RCV000420521 rs121913336 |
587 | D>E | Neoplasm [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000431213 CA16602741 rs121913336 |
587 | D>E | Neoplasm [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000437742 rs121913362 CA16602739 |
592 | I>M | Neoplasm [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs121913363 CA16602533 RCV000427646 |
592 | I>V | Melanoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16602532 RCV000420477 rs121913338 |
594 | D>A | Melanoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16602424 rs121913337 RCV000438728 |
594 | D>E | Melanoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000428481 CA16602423 RCV000824926 rs121913337 |
594 | D>E | Melanoma Cardio-facio-cutaneous syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000423919 rs121913338 RCV000426339 RCV000426107 RCV000015006 RCV000435875 VAR_018624 RCV000433779 RCV000443882 RCV000418680 RCV000443065 RCV000437006 RCV000442759 RCV000037932 CA123657 |
594 | D>G | Non-Hodgkin lymphoma Adrenal cortex carcinoma Squamous cell carcinoma of the head and neck NHL Neoplasm of brain Multiple myeloma Melanoma Non-small cell lung carcinoma B-cell chronic lymphocytic leukemia Neoplasm of the large intestine Lung adenocarcinoma Malignant melanoma of skin [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA16602426 RCV000428467 RCV000441346 RCV000428250 RCV000435646 rs397516896 RCV000417560 RCV000420810 RCV000430625 RCV000433859 RCV000441525 RCV000423137 |
594 | D>H | Adrenal cortex carcinoma Squamous cell carcinoma of the head and neck Neoplasm of brain Melanoma Multiple myeloma B-cell chronic lymphocytic leukemia Neoplasm of the large intestine Lung adenocarcinoma Malignant melanoma of skin [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000425325 RCV000417722 RCV000037931 RCV000440132 RCV000422928 RCV000444338 RCV000434944 RCV000443573 RCV000432782 rs397516896 RCV000432575 CA135095 RCV000425110 |
594 | D>N | Adrenal cortex carcinoma Squamous cell carcinoma of the head and neck Neoplasm of brain Multiple myeloma Melanoma Non-small cell lung carcinoma B-cell chronic lymphocytic leukemia Neoplasm of the large intestine Lung adenocarcinoma Malignant melanoma of skin [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057519718 CA16602427 RCV001374449 RCV000427497 |
594 | D>N | Melanoma Gallbladder cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000421094 rs121913338 RCV000434803 RCV000824925 CA16602425 RCV000796335 |
594 | D>V | RASopathy Melanoma Neoplasm of the large intestine Cardio-facio-cutaneous syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002222430 RCV000184039 RCV000414439 CA280071 RCV000427091 rs794729219 |
595 | F>L | Cardiofaciocutaneous syndrome 1 Melanoma Cardio-facio-cutaneous syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs121913341 VAR_018625 CA295915 RCV000157824 RCV000437147 |
595 | F>L | Melanoma CFC1; also found in colon cancer [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs121913341 RCV000157825 RCV000522002 RCV000445270 RCV000426478 RCV000154266 CA280058 |
595 | F>L | Neoplasm RASopathy Melanoma Cardio-facio-cutaneous syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000444314 rs121913225 CA16602738 |
595 | F>S | Melanoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001813335 CA135098 RCV000037933 rs121913361 |
596 | G>C | Noonan syndrome and Noonan-related syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000432706 rs397507483 RCV000442687 CA16602814 RCV000425257 RCV000435960 |
596 | G>D | Multiple myeloma Glioblastoma Lung adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000439396 CA16602422 RCV000418853 RCV000429746 RCV000421748 VAR_018626 RCV000429106 RCV000436498 rs121913361 |
596 | G>R | Multiple myeloma Melanoma Glioblastoma Neoplasm of the large intestine Lung adenocarcinoma a colorectal adenocarcinoma sample; somatic mutation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000422893 RCV000433824 CA16602813 RCV000442552 RCV000423119 rs121913361 |
596 | G>S | Glioblastoma Multiple myeloma Lung adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA220161 rs397507483 VAR_035098 |
596 | G>V | CFC1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV000427485 RCV000437736 RCV000443326 rs121913366 RCV000431444 CA16602257 |
597 | L>Q | Melanoma Multiple myeloma Prostate adenocarcinoma Malignant melanoma of skin [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000421201 RCV000015002 RCV000444137 RCV000432024 VAR_018513 RCV000421775 rs121913366 CA123649 RCV000439504 |
597 | L>R | LNCR; also found in an ovarian serous carcinoma sample; somatic mutation Multiple myeloma Melanoma Neoplasm of ovary Lung adenocarcinoma Prostate adenocarcinoma Malignant melanoma of skin [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000443303 rs121913368 CA16602421 |
597 | L>S | Melanoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001813207 RCV000033333 CA123651 rs121913369 RCV000426915 RCV000015003 RCV000030948 RCV000437189 RCV000505705 VAR_018627 RCV000208539 RCV000419516 |
597 | L>V | Neoplasm Noonan syndrome 7 Noonan syndrome and Noonan-related syndrome Noonan syndrome 7 (ns7) Noonan syndrome NS7; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation Melanoma Non-small cell lung carcinoma Noonan syndrome 1 Lung carcinoma [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP dbSNP gnomAD |
|
RCV001705626 CA281995 rs121913375 RCV001172273 RCV000440873 RCV000033334 RCV000433036 RCV000824927 |
599 | T>I | Neoplasm Cardiofaciocutaneous syndrome 1 Noonan syndrome RASopathy Melanoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_058628 CA10603019 RCV000856750 rs121913375 RCV000291177 RCV001172278 |
599 | T>R | Cardiofaciocutaneous syndrome 1 RASopathy CFC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000150195 RCV000515781 RCV001091496 rs727502902 |
599 | T>missing | Childhood ganglioglioma Non-small cell lung carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000445347 rs113488022 CA16602736 |
600 | V>A | Melanoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs121913377 RCV000423512 VAR_018628 |
600 | V>D | Melanoma a melanoma cell line; requires 2 nucleotide substitutions [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV001354719 rs397516897 RCV000037937 |
600 | V>E | Non-small cell lung carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_018629 rs113488022 CA123643 |
600 | V>E | CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5 [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
RCV000442563 RCV000424781 rs121913377 |
600 | V>E | Melanoma Colonic neoplasm [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001030022 rs121913227 RCV000422502 RCV001355295 RCV001030021 |
600 | V>K | Melanoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121913378 RCV000856751 CA16602737 RCV000422356 |
600 | V>L | Cardiofaciocutaneous syndrome 1 Melanoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000037935 RCV000435048 CA135104 rs121913378 |
600 | V>L | Melanoma Non-small cell lung carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs121913378 RCV000429286 CA135101 RCV001357636 RCV000037934 |
600 | V>M | Melanoma Non-small cell lung carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs121913227 RCV000440177 |
600 | V>R | Melanoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16602626 rs397507484 RCV000432349 |
601 | K>R | Melanoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001781356 RCV000425098 RCV000434946 RCV000999627 RCV000420107 RCV000431024 RCV000444564 RCV000438200 rs397507484 RCV000417689 RCV000037939 CA261660 |
601 | K>T | Malignant neoplasm of body of uterus Cardiofaciocutaneous syndrome 1 Noonan syndrome B-cell chronic lymphocytic leukemia Gastric adenocarcinoma Lung adenocarcinoma Thyroid tumor Prostate adenocarcinoma Malignant melanoma of skin [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs121913226 RCV000432391 |
601 | K>missing | Melanoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000443528 RCV000423181 RCV000433498 CA123645 rs121913364 VAR_018630 RCV000432202 RCV000440232 RCV000015000 RCV000440872 RCV000425399 RCV000014999 RCV000037938 RCV000432849 RCV000422559 |
601 | K>E | Carcinoma of colon Malignant neoplasm of body of uterus Thyroid cancer, nonmedullary, 2 Melanoma Non-small cell lung carcinoma B-cell chronic lymphocytic leukemia Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma Thyroid tumor Neoplasm CRC Malignant melanoma of skin [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV002051799 RCV000824928 RCV000033336 CA282001 RCV001781334 rs397507484 |
601 | K>I | Cardiofaciocutaneous syndrome 1 RASopathy Cardio-facio-cutaneous syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16602733 RCV000430483 rs121913365 |
601 | K>N | Melanoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000420022 RCV000438949 CA16602734 RCV000428269 RCV000441196 RCV000441430 RCV000421086 rs121913365 RCV000421724 RCV000431157 |
601 | K>N | Malignant neoplasm of body of uterus Melanoma B-cell chronic lymphocytic leukemia Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma Thyroid tumor Malignant melanoma of skin [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_058629 CA215454 rs121913364 |
601 | K>Q | CFC1 [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
CA156280 RCV000119353 rs104886015 |
603 | R>* | Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000419349 rs121913372 CA16602732 |
605 | S>F | Melanoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000437021 CA16602731 rs121913373 |
605 | S>N | Melanoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001254939 rs1255101216 |
607 | S>F | Cardiofaciocutaneous syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA369541045 rs1585998247 RCV000860021 |
636 | Q>* | Cerebral arteriovenous malformation [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000763164 CA279981 RCV001851863 RCV000015015 RCV000622900 rs180177042 RCV000033337 |
638 | D>E | Cardiofaciocutaneous syndrome 1 RASopathy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000157831 RCV000624589 RCV000767527 VAR_058630 RCV000150199 rs180177042 RCV000689333 CA280051 |
638 | D>E | Cardiofaciocutaneous syndrome 1 RASopathy Inborn genetic diseases Cardio-facio-cutaneous syndrome CFC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000764689 rs1562939198 CA369540721 RCV000681219 |
647 | Y>C | Cardiofaciocutaneous syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001159457 RCV001159456 rs1797600118 |
648 | E>G | LEOPARD syndrome 3 Noonan syndrome 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000542587 rs1428696172 CA369538502 |
672 | G>V | RASopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA369537914 rs1554389828 RCV000654960 |
709 | Q>K | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397507486 CA282007 VAR_058631 |
709 | Q>R | CFC1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV001374414 RCV000824929 RCV001850036 CA273127 rs727502904 RCV000788373 RCV000150197 |
712 | A>D | Noonan syndrome 7 RASopathy Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1481562268 RCV000987983 CA369537392 |
712 | A>T | Cardiofaciocutaneous syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA369537014 rs1585930903 RCV000987982 |
759 | G>E | Cardiofaciocutaneous syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1305119093 CA369537004 RCV000688247 |
760 | Y>C | RASopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA369590289 rs1471655119 |
2 | A>E | No |
ClinGen gnomAD |
|
|
rs1248316144 CA369590286 |
3 | A>T | No |
ClinGen gnomAD |
|
|
CA369590265 rs1209990009 |
6 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA369590253 rs1205861530 |
8 | G>C | No |
ClinGen gnomAD |
|
|
rs774925605 CA4517048 |
8 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1211436028 CA369590247 |
9 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA369590242 rs1356557681 |
10 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1225976306 CA369590238 |
11 | G>S | No |
ClinGen gnomAD |
|
|
RCV000680639 CA369590226 rs1563042573 |
13 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs397507455 CA369590216 |
14 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA369590207 rs1333413472 |
16 | Q>E | No |
ClinGen TOPMed |
|
|
CA369590202 RCV000681056 rs1563042542 |
16 | Q>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1222192591 CA369590193 |
18 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4517047 rs745476335 |
19 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369590181 rs1321934224 |
20 | N>D | No |
ClinGen gnomAD |
|
|
CA4517046 rs781085650 |
20 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs587778113 CA369590175 |
21 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
RCV000120255 rs587778113 CA157468 |
21 | G>R | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs543953468 CA168218620 |
22 | D>E | No |
ClinGen 1000Genomes |
|
|
CA135131 rs397507456 |
22 | D>N | Noonan syndrome 7 (ns7) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1414371670 CA369590166 |
22 | D>V | No |
ClinGen gnomAD |
|
|
CA16618360 RCV000480411 rs1064796897 |
23 | M>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA369590155 rs1586674580 |
24 | E>A | No |
ClinGen Ensembl |
|
|
rs587778114 RCV000680282 RCV000120256 CA157471 |
24 | E>D | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA295916 RCV000157826 rs730880416 |
24 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000157814 rs730880412 CA295900 |
25 | P>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs730880412 CA295919 RCV000157827 |
25 | P>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs371877084 CA135143 |
26 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000033268 CA281927 rs397507457 |
26 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1206505128 CA369590137 |
27 | A>G | No |
ClinGen gnomAD |
|
|
CA369590141 rs1247014863 |
27 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1437317949 CA369590133 |
28 | G>S | No |
ClinGen gnomAD |
|
|
CA369590118 rs1273585752 COSM303873 |
30 | G>D | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs397516906 CA168218528 |
31 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA295922 rs730880417 |
32 | G>D | No |
ClinGen Ensembl |
|
|
CA369590113 rs1325363555 |
32 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1458837905 CA369590107 |
33 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1458837905 CA369590106 |
33 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA168218477 rs886041827 |
36 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
RCV000350213 CA10603031 rs886041827 |
36 | S>F | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA369590081 rs1390903353 |
37 | S>L | No |
ClinGen gnomAD |
|
|
rs1011563467 CA168218467 |
38 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA369590069 rs1161707003 |
40 | D>N | No |
ClinGen Ensembl |
|
|
rs1186254108 CA369590057 |
41 | P>L | No |
ClinGen gnomAD |
|
|
rs1389368234 CA369590062 |
41 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA369590061 rs1389368234 |
41 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
RCV000173337 rs794726917 CA238790 |
44 | P>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA369590043 rs1279627804 |
44 | P>T | No |
ClinGen TOPMed |
|
|
CA369587980 rs1354935301 |
57 | T>S | No |
ClinGen gnomAD |
|
|
rs371504803 CA4517023 |
59 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA369587919 rs1265063696 |
61 | I>V | No |
ClinGen TOPMed |
|
|
rs757446039 CA4517022 |
69 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs764408896 CA4517020 |
77 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369593970 rs1371538157 |
81 | A>V | No |
ClinGen gnomAD |
|
|
CA4516997 rs753354016 |
83 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369593942 RCV000588426 rs1131691387 |
85 | Y>C | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA4516996 rs765883358 |
86 | T>S | No |
ClinGen ExAC gnomAD |
|
|
RCV000223377 rs876661018 CA10577327 |
87 | S>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA168127419 rs1033856250 |
87 | S>N | No |
ClinGen TOPMed |
|
|
CA10603007 RCV000278430 rs886041256 |
91 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs150050723 CA168127415 |
93 | Q>H | No |
ClinGen TOPMed |
|
|
CA369593893 rs1246425730 |
93 | Q>K | No |
ClinGen gnomAD |
|
|
rs1002421360 CA168127413 |
94 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA369593885 RCV000779850 rs1562985576 |
94 | Q>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1206928359 CA369593874 |
96 | E>K | No |
ClinGen gnomAD |
|
|
rs774142136 CA4516991 |
102 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs774142136 CA369593824 COSM1167905 |
102 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA369593800 rs1322163182 |
106 | G>E | No |
ClinGen gnomAD |
|
|
RCV000610566 CA4516989 rs749247588 |
106 | G>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA4516987 rs747047638 |
113 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA369593745 rs1174578809 |
114 | S>C | No |
ClinGen gnomAD |
|
|
rs1388495628 CA369593738 |
115 | A>V | No |
ClinGen gnomAD |
|
|
rs1429200344 CA369593733 |
116 | S>* | No |
ClinGen gnomAD |
|
|
CA281939 rs397507461 |
117 | M>R | No |
ClinGen Ensembl |
|
|
CA4516982 rs755475967 |
117 | M>V | No |
ClinGen ExAC gnomAD |
|
|
RCV000033274 rs397507462 CA281942 |
122 | S>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1176574782 CA369593681 |
125 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA168127382 rs1052947619 |
126 | S>F | No |
ClinGen Ensembl |
|
|
CA168127380 rs543425316 |
127 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1057517889 RCV000413297 CA16042566 |
133 | S>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA168127376 rs956815092 |
134 | S>P | No |
ClinGen TOPMed |
|
|
rs138086018 CA4516978 |
136 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1339350570 CA369593605 |
138 | F>S | No |
ClinGen gnomAD |
|
|
CA4516977 rs774083294 |
139 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1416091381 CA369593586 |
140 | N>K | No |
ClinGen gnomAD |
|
|
CA168127370 rs370069295 |
143 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4516976 rs763920732 |
143 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA369593573 rs1586339585 |
143 | D>N | No |
ClinGen Ensembl |
|
|
rs775527171 CA4516974 |
144 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1369170225 CA369593560 |
145 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA369593562 rs1369170225 |
145 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA168127364 rs769648920 COSM1548502 |
146 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs773266363 CA4516971 |
148 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs756114784 CA168127358 |
150 | K>R | No |
ClinGen TOPMed |
|
|
CA369593507 rs1476241098 |
153 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs758506511 CA168127356 |
155 | P>L | No |
ClinGen Ensembl |
|
|
CA369593485 rs1258111302 |
157 | V>L | No |
ClinGen gnomAD |
|
|
CA4516952 rs774666543 |
169 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA369591959 rs1409723450 |
170 | P>L | No |
ClinGen gnomAD |
|
|
CA4516951 rs768694358 |
171 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4516950 rs749677118 RCV000489641 |
173 | C>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA369591911 rs1411975481 |
173 | C>Y | No |
ClinGen TOPMed |
|
|
rs1554404622 CA369591883 RCV000590227 |
175 | V>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA4516949 rs780556975 RCV000612662 |
176 | T>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA369591867 rs780556975 |
176 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs770494089 COSM1448633 CA4516948 |
178 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs746348396 CA168114609 |
178 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1354338741 CA369591724 |
185 | L>V | No |
ClinGen TOPMed |
|
|
rs756820137 CA4516945 COSM484943 |
198 | Y>H | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4516943 rs777491533 |
203 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1202874043 CA369591335 |
204 | E>D | No |
ClinGen gnomAD |
|
|
rs766353093 CA4516915 |
218 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1554404461 RCV000612869 CA369591137 |
218 | T>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1015872387 CA168113810 |
220 | E>K | No |
ClinGen Ensembl |
|
|
rs373935661 CA4516900 |
238 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM259660 rs397516903 CA295904 RCV000157818 |
247 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA284654 COSM259660 rs397509343 RCV000049222 |
247 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA369590812 rs1325951163 |
252 | R>Q | No |
ClinGen gnomAD |
|
|
COSM346881 rs749140487 CA4516896 |
257 | Q>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA295905 rs730880413 COSM1086269 RCV000157819 |
271 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
CA369590647 rs1409250783 |
276 | V>A | No |
ClinGen gnomAD |
|
|
RCV000414050 RCV001290531 rs1057518105 CA16042685 |
276 | V>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA4516894 rs756120029 |
283 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA4516893 rs750310423 |
285 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs768365723 CA4516880 |
288 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1259806158 CA369590472 |
299 | P>R | No |
ClinGen gnomAD |
|
|
COSM238980 CA4516879 rs372239545 |
300 | I>V | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA4516878 rs34776339 VAR_040391 |
301 | P>S | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs964235659 CA168106523 |
305 | A>T | No |
ClinGen TOPMed |
|
|
CA4516877 rs547693139 COSM1184860 |
305 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs781001327 CA4516875 |
308 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4516872 rs757803696 COSM39877 |
310 | T>I | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs757243267 CA4516873 |
310 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369590401 rs1452771445 |
311 | A>T | No |
ClinGen TOPMed |
|
|
rs1382327548 CA369590378 |
315 | G>R | No |
ClinGen gnomAD |
|
|
rs1390750160 CA369590367 |
316 | S>L | No |
ClinGen TOPMed |
|
|
rs779101864 CA168106446 |
317 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779101864 CA4516871 |
317 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369590366 rs1586209574 |
317 | S>P | No |
ClinGen Ensembl |
|
|
RCV000316687 rs886041599 CA10603001 |
319 | S>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1461617552 CA369590351 |
320 | A>T | No |
ClinGen gnomAD |
|
|
CA4516867 rs760952736 |
321 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs762305547 CA4516865 |
322 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762305547 CA4516864 |
322 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369590320 rs1238788540 |
325 | S>C | No |
ClinGen TOPMed |
|
|
CA369590323 rs1257895069 |
325 | S>P | No |
ClinGen gnomAD |
|
|
rs1181422421 CA369589988 |
331 | L>F | No |
ClinGen TOPMed |
|
|
CA168100950 rs372915332 |
331 | L>P | No |
ClinGen ESP TOPMed |
|
|
RCV000157829 rs730880418 CA295925 |
334 | P>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA369589959 rs1468404745 |
336 | P>A | No |
ClinGen gnomAD |
|
|
CA369589957 rs1468404745 |
336 | P>S | No |
ClinGen gnomAD |
|
|
CA168100930 rs200373902 |
337 | S>P | No |
ClinGen 1000Genomes |
|
|
CA4516834 rs756332987 |
338 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4516831 rs757653653 |
341 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA369589926 rs863224722 RCV000520673 |
341 | P>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs752186820 CA4516827 |
343 | P>L | No |
ClinGen ExAC gnomAD |
|
|
RCV000589715 rs758935249 CA4516828 |
343 | P>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs56094800 CA369589910 |
344 | Q>H | No |
ClinGen gnomAD |
|
|
CA16042670 RCV000414586 rs758920663 |
344 | Q>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs758920663 CA4516825 |
344 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA369589906 rs1301589020 |
345 | P>R | No |
ClinGen gnomAD |
|
|
rs776453584 CA4516824 |
345 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA135043 RCV000037903 rs397516884 |
347 | R>P | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA369589893 rs397516884 |
347 | R>Q | No |
ClinGen TOPMed |
|
|
CA4516823 rs766062968 |
348 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1317540371 CA369589881 |
349 | A>V | No |
ClinGen gnomAD |
|
|
CA168100854 rs202209106 |
350 | D>Y | No |
ClinGen 1000Genomes |
|
|
CA175343 rs201882896 RCV000150213 |
352 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1158980679 CA369589848 COSM2861443 |
354 | R>Q | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs993830683 CA168100828 COSM484942 |
357 | F>S | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA369589814 rs1586186530 |
359 | Q>R | No |
ClinGen Ensembl |
|
|
CA295911 rs730880415 RCV000157822 |
360 | R>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA369589793 rs1469574556 |
362 | R>L | No |
ClinGen Ensembl |
|
|
CA369589774 rs1038048880 |
366 | A>P | No |
ClinGen TOPMed |
|
|
CA168100762 rs1038048880 |
366 | A>T | No |
ClinGen TOPMed |
|
|
CA168100752 rs267601317 |
367 | P>L | No |
ClinGen Ensembl |
|
|
rs397507471 CA168100748 |
374 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA281959 rs397507471 |
374 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs781402121 CA4516817 |
377 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs889203931 CA168100743 |
378 | N>K | No |
ClinGen Ensembl |
|
|
rs1278451495 CA369589693 |
378 | N>S | No |
ClinGen gnomAD |
|
|
CA4516797 rs147732750 RCV000681067 |
382 | L>M | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1264766156 CA369589638 |
384 | R>K | No |
ClinGen Ensembl |
|
|
CA369589620 rs1448515842 |
386 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
RCV000033297 rs397507472 CA281962 |
389 | R>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs397507472 CA369589604 |
389 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs886041424 CA10603020 RCV000298158 |
390 | G>S | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA4516794 rs748393685 |
393 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA135049 RCV000037905 rs397516886 |
395 | T>A | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA369589555 rs1239045029 |
395 | T>N | No |
ClinGen gnomAD |
|
|
CA369589551 rs1467230975 |
396 | T>A | No |
ClinGen gnomAD |
|
|
CA369589526 rs1409797785 |
400 | A>S | No |
ClinGen TOPMed |
|
|
rs1586146757 CA369589521 |
401 | T>P | No |
ClinGen Ensembl |
|
|
CA369589513 rs199927105 |
402 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316280257 CA369589516 |
402 | P>T | No |
ClinGen gnomAD |
|
|
RCV000591877 CA4516773 RCV000681080 rs749792302 |
403 | P>A | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA369589511 rs749792302 |
403 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA369589512 rs749792302 |
403 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1022449496 CA168091720 |
407 | P>T | No |
ClinGen TOPMed |
|
|
rs780915629 CA4516770 |
416 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA369589424 rs978365655 |
417 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs978365655 CA168091711 |
417 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA369589392 rs1381121699 |
422 | P>S | No |
ClinGen gnomAD |
|
|
CA369589382 rs1452646888 |
423 | Q>H | No |
ClinGen gnomAD |
|
|
rs756851654 CA4516769 |
424 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000681294 rs1562957703 CA369589348 |
428 | S>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs575016745 CA4516768 |
433 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA369589306 rs1562957691 |
435 | R>K | No |
ClinGen Ensembl |
|
|
CA369589292 rs1249895723 |
437 | R>* | No |
ClinGen TOPMed |
|
|
CA369589040 rs1256277078 |
443 | R>G | No |
ClinGen gnomAD |
|
|
rs752429313 CA4516748 |
445 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1341682230 CA369589015 |
447 | S>G | No |
ClinGen gnomAD |
|
|
rs754904100 CA4516746 |
453 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1343787672 CA369588952 |
455 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA369588942 rs767473452 |
456 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
RCV001175421 CA168090587 rs1008100536 |
457 | I>F | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1461539805 CA369588934 |
458 | T>A | No |
ClinGen gnomAD |
|
|
CA369588926 rs1172916141 |
459 | V>A | No |
ClinGen gnomAD |
|
|
rs1185996698 CA369588916 |
461 | Q>K | No |
ClinGen TOPMed |
|
|
rs1800883856 RCV001174976 |
464 | G>missing | No |
ClinVar dbSNP |
|
|
rs121913349 CA10602955 RCV000304268 |
464 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs121913348 CA135076 VAR_018616 |
464 | G>V | a colorectal cancer cell line; elevated kinase activity; efficiently induces cell transformation [UniProt] | No |
ClinGen UniProt Ensembl dbSNP |
|
rs1417108573 CA369588896 |
465 | S>T | No |
ClinGen gnomAD |
|
|
rs121913353 CA168090546 |
466 | G>R | No |
ClinGen Ensembl |
|
|
CA168090516 rs867748453 |
467 | S>L | No |
ClinGen Ensembl |
|
|
rs121913357 RCV000150211 CA175340 |
469 | G>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000033309 CA281971 rs121913376 |
471 | V>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1345139126 CA369588858 |
473 | K>R | No |
ClinGen gnomAD |
|
|
CA369588514 rs1372569284 |
479 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA915945533 rs1586126644 RCV000788351 |
481 | A>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs765715150 CA4516725 |
482 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA369588495 rs397507474 |
483 | K>E | No |
ClinGen gnomAD |
|
|
rs759901913 CA4516724 |
484 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA273414 rs180177036 |
485 | L>F | No |
ClinGen Ensembl |
|
|
RCV000824811 rs1586126439 |
486 | N>missing | No |
ClinVar dbSNP |
|
|
CA168087150 rs905485545 |
489 | A>E | No |
ClinGen Ensembl |
|
|
rs375520366 CA168087142 |
490 | P>S | No |
ClinGen ESP |
|
|
CA4516723 rs777038089 |
491 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs760614709 CA4516722 |
492 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs760614709 CA168087126 |
492 | P>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000591879 CA369588409 rs1554399258 |
496 | Q>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1370423184 CA369588404 |
497 | A>G | No |
ClinGen gnomAD |
|
|
RCV000289545 rs886041264 CA10602953 |
498 | F>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000033316 rs180177039 CA281977 |
501 | E>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA369588322 rs1485437761 |
509 | R>* | No |
ClinGen gnomAD |
|
|
rs1220982313 CA369588310 |
511 | V>M | No |
ClinGen gnomAD |
|
|
rs1478587652 CA369588258 |
518 | G>D | No |
ClinGen Ensembl |
|
|
rs869025340 CA16042565 RCV000413915 |
525 | L>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA4516703 rs766837571 |
525 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA10588419 rs606231228 RCV000255590 |
531 | W>C | Noonan syndrome 7 (ns7) [Ensembl] | No |
ClinGen ClinVar Ensembl dbSNP |
|
rs397507479 CA175337 |
532 | C>Y | No |
ClinGen Ensembl |
|
|
CA369588159 rs1357040745 |
533 | E>D | No |
ClinGen gnomAD |
|
|
CA279978 rs180177041 |
534 | G>R | No |
ClinGen Ensembl |
|
|
rs1442683518 CA369588153 |
534 | G>V | No |
ClinGen gnomAD |
|
|
rs551111837 CA168086274 |
543 | I>V | No |
ClinGen gnomAD |
|
|
rs1562954612 CA369588025 |
544 | I>T | No |
ClinGen Ensembl |
|
|
rs756706958 CA168086237 |
547 | K>E | No |
ClinGen Ensembl |
|
|
rs768303459 CA4516698 |
548 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs749083550 CA4516697 |
553 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs760524720 CA4516696 |
556 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278812236 CA369587827 |
558 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA369587813 rs1232455781 |
559 | Q>R | No |
ClinGen gnomAD |
|
|
CA4516694 rs745783052 |
564 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4516673 rs755214031 |
572 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs755214031 CA4516674 |
572 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs397516894 CA168048248 |
574 | H>D | No |
ClinGen Ensembl |
|
|
CA295914 rs397507481 RCV000157823 |
574 | H>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000413723 CA16042665 rs1057517915 |
576 | D>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA369543376 rs1296743862 |
582 | I>T | No |
ClinGen gnomAD |
|
|
rs397507482 CA281989 |
583 | F>L | No |
ClinGen Ensembl |
|
|
CA4516656 rs749287111 |
589 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA16042558 rs749287111 RCV000413430 |
589 | T>P | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA168047558 rs55939351 |
592 | I>K | No |
ClinGen Ensembl |
|
|
RCV000033331 rs55939351 CA281992 |
592 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA281998 rs113488022 |
600 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs372569965 CA4516655 |
603 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369542978 rs1218559678 |
604 | W>* | No |
ClinGen gnomAD |
|
|
rs1488384581 CA369542933 |
606 | G>A | No |
ClinGen gnomAD |
|
|
rs1488384581 CA369542941 |
606 | G>E | No |
ClinGen gnomAD |
|
|
rs868021367 CA168047327 |
606 | G>R | No |
ClinGen Ensembl |
|
|
CA369542907 rs1255101216 |
607 | S>C | No |
ClinGen gnomAD |
|
|
rs746269606 CA4516654 |
609 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA4516653 rs781529187 |
612 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1296245849 CA369542710 |
620 | M>L | No |
ClinGen TOPMed |
|
|
CA369542712 rs1296245849 |
620 | M>V | No |
ClinGen TOPMed |
|
|
CA4516634 rs746074624 |
622 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1425139763 CA369541459 |
623 | E>K | No |
ClinGen gnomAD |
|
|
rs781330698 CA4516633 |
624 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1797604920 RCV001174970 |
630 | K>R | No |
ClinVar dbSNP |
|
|
rs746010267 CA168044561 |
633 | Y>H | No |
ClinGen Ensembl |
|
|
rs778397955 CA4516631 |
645 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4516630 rs758803218 |
646 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1797600635 RCV001200191 |
647 | Y>H | No |
ClinVar dbSNP |
|
|
rs1265184298 CA369540691 |
648 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
RCV000239139 CA10585996 rs879255380 |
650 | M>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1243095331 CA369540505 |
658 | N>H | No |
ClinGen gnomAD |
|
|
rs752322193 CA4516629 |
659 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1317472067 CA369540400 |
662 | R>K | No |
ClinGen gnomAD |
|
|
rs754481830 CA4516626 |
664 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs757016514 CA4516600 |
669 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA282004 rs397507485 |
671 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
RCV000520384 CA369538459 rs1554389860 |
676 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs886041260 RCV000363862 RCV001731553 CA10602950 |
677 | D>N | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs893650301 CA168038099 |
681 | V>I | No |
ClinGen Ensembl |
|
|
rs1796764011 RCV001193979 |
682 | R>Q | No |
ClinVar dbSNP |
|
|
rs776664982 CA4516597 |
682 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1442061595 CA369538284 |
688 | A>V | No |
ClinGen gnomAD |
|
|
rs1028549781 CA168038098 |
689 | M>V | No |
ClinGen gnomAD |
|
|
rs55715359 CA168038097 |
692 | L>S | No |
ClinGen gnomAD |
|
|
CA4516596 rs766692331 |
693 | M>T | No |
ClinGen ExAC |
|
|
RCV000338055 CA10602994 rs886041257 |
701 | R>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1257391548 CA369537936 |
705 | P>L | No |
ClinGen gnomAD |
|
|
CA369537406 rs1585931858 |
710 | I>F | No |
ClinGen Ensembl |
|
|
CA369537404 rs1375912300 |
710 | I>T | No |
ClinGen TOPMed |
|
|
CA369537389 rs1481562268 |
712 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs727502904 CA369537385 RCV000681053 |
712 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs555976452 CA369537373 |
714 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs555976452 CA4516527 |
714 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1205853831 CA369537362 |
715 | E>* | No |
ClinGen TOPMed |
|
|
CA369537350 rs1291775716 |
716 | L>V | No |
ClinGen gnomAD |
|
|
rs397507487 CA282009 |
719 | R>C | No |
ClinGen TOPMed |
|
|
CA4516526 rs368528867 |
719 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA168035097 rs368528867 |
719 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369537317 rs1253996056 |
721 | L>F | No |
ClinGen TOPMed |
|
|
rs1585931494 CA369537293 |
725 | H>Y | No |
ClinGen Ensembl |
|
|
rs777533608 CA4516525 |
726 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369537255 rs1585931446 |
730 | E>D | No |
ClinGen Ensembl |
|
|
CA369537252 rs1562931107 |
731 | P>S | No |
ClinGen Ensembl |
|
|
rs758134174 CA4516524 |
732 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA369537216 rs1436193121 |
735 | R>Q | No |
ClinGen gnomAD |
|
|
CA369537210 rs1348443729 |
736 | A>G | No |
ClinGen gnomAD |
|
|
rs778872326 CA4516522 |
737 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA16605131 rs1057520665 RCV000426001 |
742 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA4516520 rs767671899 |
744 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767671899 CA4516521 |
744 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200490285 CA168035061 |
749 | A>D | No |
ClinGen Ensembl |
|
|
rs752026903 CA4516519 |
752 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA168035055 rs879059895 |
752 | K>R | No |
ClinGen Ensembl |
|
|
CA4516517 rs763340034 |
755 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1064795542 CA16618359 RCV000486116 |
755 | I>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA4516518 rs764565088 |
755 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1220285993 CA369537040 |
757 | A>P | No |
ClinGen gnomAD |
|
|
rs1444388837 CA369537028 |
758 | G>A | No |
ClinGen TOPMed |
|
|
rs1348001321 CA369537035 |
758 | G>R | No |
ClinGen gnomAD |
|
|
rs775889922 CA4516516 |
762 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139420557 CA4516513 |
764 | P>L | No |
ClinGen ESP ExAC TOPMed |
|
|
CA369536942 rs1217309134 |
765 | V>L | No |
ClinGen gnomAD |
|
|
CA369536924 rs1208461159 |
766 | H>R | No |
ClinGen Ensembl |
|
|
rs1317051737 CA369536928 |
766 | H>Y | No |
ClinGen gnomAD |
|
|
CA4516512 rs770631233 |
767 | H>G | No |
ClinGen ExAC gnomAD |
6 associated diseases with P15056
[MIM: 603689]: Myopathy, myofibrillar, 9, with early respiratory failure (MFM9)
An autosomal dominant myopathy characterized by adulthood onset of weakness in proximal, distal, axial and respiratory muscles. Pelvic girdle weakness, foot drop and neck weakness are the main symptoms at onset, but ultimately the weakness usually involves the proximal compartment of both upper and lower limbs. Additional features include variable degrees of Achilles tendon contractures, spinal rigidity and muscle hypertrophy. Respiratory involvement often leads to requirement for non-invasive ventilation support. {ECO:0000269|PubMed:15802564}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 613765]: Cardiomyopathy, familial hypertrophic 9 (CMH9)
A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269|PubMed:10462489}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 604145]: Cardiomyopathy, dilated 1G (CMD1G)
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:11788824, ECO:0000269|PubMed:11846417, ECO:0000269|PubMed:16465475}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 600334]: Tardive tibial muscular dystrophy (TMD)
Autosomal dominant, late-onset distal myopathy. Muscle weakness and atrophy are usually confined to the anterior compartment of the lower leg, in particular the tibialis anterior muscle. Clinical symptoms usually occur at age 35-45 years or much later. {ECO:0000269|PubMed:12145747, ECO:0000269|PubMed:12891679}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 608807]: Muscular dystrophy, limb-girdle, autosomal recessive 10 (LGMDR10)
An autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles. Severe disability is observed within 20 years of onset. {ECO:0000269|PubMed:12145747}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 611705]: Salih myopathy (SALMY)
An autosomal recessive, early-onset muscular disorder characterized by dilated cardiomyopathy, delayed motor development with generalized muscle weakness predominantly affecting proximal and distal lower limbs. Skeletal muscle biopsies show minicore-like lesions with mitochondrial depletion and sarcomere disorganization, centralized nuclei, and type 1 fiber predominance. Dystrophic changes become apparent in the second decade. Cardiac muscle biopsies show disruption of myocardial architecture, nuclear hypertrophy, and endomysial fibrosis. Sudden death may occurr due to cardiomyopathy. {ECO:0000269|PubMed:17444505}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant myopathy characterized by adulthood onset of weakness in proximal, distal, axial and respiratory muscles. Pelvic girdle weakness, foot drop and neck weakness are the main symptoms at onset, but ultimately the weakness usually involves the proximal compartment of both upper and lower limbs. Additional features include variable degrees of Achilles tendon contractures, spinal rigidity and muscle hypertrophy. Respiratory involvement often leads to requirement for non-invasive ventilation support. {ECO:0000269|PubMed:15802564}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269|PubMed:10462489}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:11788824, ECO:0000269|PubMed:11846417, ECO:0000269|PubMed:16465475}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Autosomal dominant, late-onset distal myopathy. Muscle weakness and atrophy are usually confined to the anterior compartment of the lower leg, in particular the tibialis anterior muscle. Clinical symptoms usually occur at age 35-45 years or much later. {ECO:0000269|PubMed:12145747, ECO:0000269|PubMed:12891679}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles. Severe disability is observed within 20 years of onset. {ECO:0000269|PubMed:12145747}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal recessive, early-onset muscular disorder characterized by dilated cardiomyopathy, delayed motor development with generalized muscle weakness predominantly affecting proximal and distal lower limbs. Skeletal muscle biopsies show minicore-like lesions with mitochondrial depletion and sarcomere disorganization, centralized nuclei, and type 1 fiber predominance. Dystrophic changes become apparent in the second decade. Cardiac muscle biopsies show disruption of myocardial architecture, nuclear hypertrophy, and endomysial fibrosis. Sudden death may occurr due to cardiomyopathy. {ECO:0000269|PubMed:17444505}. Note=The disease is caused by variants affecting the gene represented in this entry.
7 regional properties for P15056
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 269 - 522 | IPR000719 |
| domain | SH2 domain | 148 - 247 | IPR000980 |
| domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 270 - 517 | IPR001245 |
| domain | SH3 domain | 83 - 144 | IPR001452 |
| active_site | Tyrosine-protein kinase, active site | 384 - 396 | IPR008266 |
| binding_site | Protein kinase, ATP binding site | 275 - 297 | IPR017441 |
| domain | Tyrosine-protein kinase, catalytic domain | 269 - 518 | IPR020635 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR23257 | SERINE-THREONINE PROTEIN KINASE |
| PANTHER Subfamily | PTHR23257:SF731 | NON-SPECIFIC SERINE_THREONINE PROTEIN KINASE |
| PANTHER Protein Class |
non-receptor serine/threonine protein kinase
protein modifying enzyme |
|
| PANTHER Pathway Category | No pathway information available | |
4 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. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| 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. |
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| identical protein binding | Binding to an identical protein or proteins. |
| MAP kinase kinase activity | Catalysis of the concomitant phosphorylation of threonine (T) and tyrosine (Y) residues in a Thr-Glu-Tyr (TEY) thiolester sequence in a MAP kinase (MAPK) substrate. |
| 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. |
| 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. |
| scaffold protein binding | Binding to a scaffold protein. Scaffold proteins are crucial regulators of many key signaling pathways. Although not strictly defined in function, they are known to interact and/or bind with multiple members of a signaling pathway, tethering them into complexes. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| animal organ morphogenesis | Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. |
| cellular response to calcium ion | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus. |
| epidermal growth factor receptor signaling pathway | The series of molecular signals initiated by binding of a ligand to the tyrosine kinase receptor EGFR (ERBB1) on the surface of a cell. The pathway ends with regulation of a downstream cellular process, e.g. transcription. |
| establishment of protein localization to membrane | The directed movement of a protein to a specific location in a membrane. |
| 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 ERK1 and ERK2 cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of glucose transmembrane transport | Any process that increases the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| positive regulation of peptidyl-serine phosphorylation | Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-serine. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| trehalose metabolism in response to stress | The chemical reactions and pathways involving trehalose that occur as a result of a stimulus indicating the organism is under stress. |
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 |
| P05625 | RAF1 | RAF proto-oncogene serine/threonine-protein kinase | Gallus gallus (Chicken) | PR |
| Q04982 | BRAF | Serine/threonine-protein kinase B-raf | Gallus gallus (Chicken) | SS |
| P11346 | Raf | Raf homolog serine/threonine-protein kinase Raf | Drosophila melanogaster (Fruit fly) | PR |
| Q02779 | MAP3K10 | Mitogen-activated protein kinase kinase kinase 10 | Homo sapiens (Human) | SS |
| O43353 | RIPK2 | Receptor-interacting serine/threonine-protein kinase 2 | Homo sapiens (Human) | PR |
| 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 |
| P10398 | ARAF | Serine/threonine-protein kinase A-Raf | Homo sapiens (Human) | PR |
| Q8NB16 | MLKL | Mixed lineage kinase domain-like protein | Homo sapiens (Human) | EV |
| 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 |
| P28028 | Braf | Serine/threonine-protein kinase B-raf | Mus musculus (Mouse) | SS |
| 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 |
| Q9FPR3 | EDR1 | Serine/threonine-protein kinase EDR1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q05609 | CTR1 | Serine/threonine-protein kinase CTR1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAALSGGGGG | GAEPGQALFN | GDMEPEAGAG | AGAAASSAAD | PAIPEEVWNI | KQMIKLTQEH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IEALLDKFGG | EHNPPSIYLE | AYEEYTSKLD | ALQQREQQLL | ESLGNGTDFS | VSSSASMDTV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TSSSSSSLSV | LPSSLSVFQN | PTDVARSNPK | SPQKPIVRVF | LPNKQRTVVP | ARCGVTVRDS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LKKALMMRGL | IPECCAVYRI | QDGEKKPIGW | DTDISWLTGE | ELHVEVLENV | PLTTHNFVRK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TFFTLAFCDF | CRKLLFQGFR | CQTCGYKFHQ | RCSTEVPLMC | VNYDQLDLLF | VSKFFEHHPI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PQEEASLAET | ALTSGSSPSA | PASDSIGPQI | LTSPSPSKSI | PIPQPFRPAD | EDHRNQFGQR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DRSSSAPNVH | INTIEPVNID | DLIRDQGFRG | DGGSTTGLSA | TPPASLPGSL | TNVKALQKSP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GPQRERKSSS | SSEDRNRMKT | LGRRDSSDDW | EIPDGQITVG | QRIGSGSFGT | VYKGKWHGDV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AVKMLNVTAP | TPQQLQAFKN | EVGVLRKTRH | VNILLFMGYS | TKPQLAIVTQ | WCEGSSLYHH |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LHIIETKFEM | IKLIDIARQT | AQGMDYLHAK | SIIHRDLKSN | NIFLHEDLTV | KIGDFGLATV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KSRWSGSHQF | EQLSGSILWM | APEVIRMQDK | NPYSFQSDVY | AFGIVLYELM | TGQLPYSNIN |
| 670 | 680 | 690 | 700 | 710 | 720 |
| NRDQIIFMVG | RGYLSPDLSK | VRSNCPKAMK | RLMAECLKKK | RDERPLFPQI | LASIELLARS |
| 730 | 740 | 750 | 760 | ||
| LPKIHRSASE | PSLNRAGFQT | EDFSLYACAS | PKTPIQAGGY | GAFPVH |