P04049
EV
Gene name |
RAF1 (RAF) |
Protein name |
RAF proto-oncogene serine/threonine-protein kinase |
Names |
Proto-oncogene c-RAF, cRaf, Raf-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5894 |
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). 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 |
336-618 (Catalytic domain of the Serine/Threonine Kinase, C-Raf, Rapidly Accelerated Fibrosarcoma, kinase) |
Relief mechanism |
PTM |
Assay |
Split protein assay, Mutagenesis experiment, Deletion assay, Structural analysis |
Accessory elements
485-510 (Activation loop from InterPro)
Target domain |
349-609 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Cutler RE Jr et al. (1998) "Autoregulation of the Raf-1 serine/threonine kinase", Proceedings of the National Academy of Sciences of the United States of America, 95, 9214-9
- Tran NH et al. (2005) "B-Raf and Raf-1 are regulated by distinct autoregulatory mechanisms", The Journal of biological chemistry, 280, 16244-53
- Tran NH et al. (2003) "Phosphorylation of Raf-1 by p21-activated kinase 1 and Src regulates Raf-1 autoinhibition", The Journal of biological chemistry, 278, 11221-6
- Niault T et al. (2009) "From autoinhibition to inhibition in trans: the Raf-1 regulatory domain inhibits Rok-alpha kinase activity", The Journal of cell biology, 187, 335-42
- Cookis T et al. (2021) "Crystal Structure Reveals the Full Ras-Raf Interface and Advances Mechanistic Understanding of Raf Activation", Biomolecules, 11,
Autoinhibited structure
Activated structure
46 structures for P04049
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1C1Y | X-ray | 190 A | B | 55-131 | PDB |
| 1FAQ | NMR | - | A | 136-187 | PDB |
| 1FAR | NMR | - | A | 136-187 | PDB |
| 1GUA | X-ray | 200 A | B | 51-131 | PDB |
| 1RFA | NMR | - | A | 55-132 | PDB |
| 3CU8 | X-ray | 240 A | P/Q | 256-264 | PDB |
| 3IQJ | X-ray | 115 A | P | 255-264 | PDB |
| 3IQU | X-ray | 105 A | P | 255-260 | PDB |
| 3IQV | X-ray | 120 A | P | 255-260 | PDB |
| 3KUC | X-ray | 192 A | B | 51-131 | PDB |
| 3KUD | X-ray | 215 A | B | 51-131 | PDB |
| 3NKX | X-ray | 240 A | P/Q | 255-264 | PDB |
| 3O8I | X-ray | 200 A | B | 255-264 | PDB |
| 3OMV | X-ray | 400 A | A/B | 323-618 | PDB |
| 4FJ3 | X-ray | 195 A | P | 229-264 | PDB |
| 4G0N | X-ray | 245 A | B | 54-131 | PDB |
| 4G3X | X-ray | 325 A | B | 55-131 | PDB |
| 4IEA | X-ray | 170 A | P | 618-625 | PDB |
| 4IHL | X-ray | 220 A | P | 229-264 | PDB |
| 6NTC | X-ray | 290 A | B | 55-131 | PDB |
| 6NTD | X-ray | 315 A | B | 55-131 | PDB |
| 6PTS | NMR | - | D | 56-187 | PDB |
| 6PTW | NMR | - | D | 56-187 | PDB |
| 6VJJ | X-ray | 140 A | B | 52-131 | PDB |
| 6XGU | X-ray | 270 A | B | 52-188 | PDB |
| 6XGV | X-ray | 211 A | B | 52-188 | PDB |
| 6XHA | X-ray | 287 A | B | 52-188 | PDB |
| 6XHB | X-ray | 250 A | B | 52-188 | PDB |
| 6XI7 | X-ray | 195 A | B | 52-188 | PDB |
| 7JHP | X-ray | 277 A | C | 55-187 | PDB |
| 7Z37 | EM | 367 A | CP1 | 1-648 | PDB |
| 7Z38 | EM | 316 A | C | 1-648 | PDB |
| 8A68 | X-ray | 160 A | B | 255-263 | PDB |
| 8A6F | X-ray | 160 A | P | 255-264 | PDB |
| 8A6H | X-ray | 160 A | P | 255-264 | PDB |
| 8ATR | X-ray | 170 A | P | 255-263 | PDB |
| 8ATS | X-ray | 140 A | P | 255-263 | PDB |
| 8AV0 | X-ray | 150 A | P | 256-264 | PDB |
| 8CHF | EM | 425 A | A/B | 1-648 | PDB |
| 8CPD | EM | 346 A | A/B | 1-648 | PDB |
| 8EPW | X-ray | 200 A | B | 52-131 | PDB |
| 8GAE | EM | 330 A | D | 404-610 | PDB |
| 8GFT | EM | 380 A | D | 336-618 | PDB |
| 8T74 | X-ray | 165 A | B | 52-131 | PDB |
| 8T75 | X-ray | 265 A | B/D/F/H | 52-188 | PDB |
| AF-P04049-F1 | Predicted | AlphaFoldDB |
487 variants for P04049
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001813497 RCV000522586 CA2259851 rs144637992 |
10 | T>M | Noonan syndrome and Noonan-related syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000761113 rs779001930 CA351485223 |
11 | I>F | Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2259848 RCV000475263 rs757333753 |
14 | G>D | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs752484962 CA2259844 RCV001257447 |
21 | V>M | LEOPARD syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA134746 RCV000037696 rs397516824 RCV000168020 |
22 | F>L | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000159060 CA241481 RCV000680302 rs372738063 RCV000229182 |
32 | I>V | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000552397 CA2259835 COSM1418572 rs772390935 |
40 | R>C | RASopathy large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000530532 rs145611571 CA2259834 RCV000406219 |
41 | R>L | RASopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000037673 CA134693 RCV000680304 RCV000624707 RCV000463359 RCV000253580 rs145611571 |
41 | R>Q | RASopathy Primary familial dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001854035 RCV000680641 rs1480507957 CA351485027 |
41 | R>W | RASopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001146207 rs200856000 RCV001813492 RCV001146206 RCV000981699 CA2259833 RCV000522560 |
42 | A>T | LEOPARD syndrome 2 Noonan syndrome and Noonan-related syndrome Noonan syndrome 5 RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000398939 RCV000521407 CA2259832 rs11549992 RCV001813467 RCV000981698 RCV000290750 |
42 | A>V | LEOPARD syndrome 2 Noonan syndrome and Noonan-related syndrome RASopathy Noonan syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA351484917 rs1559447623 RCV000761124 |
59 | R>H | Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000461248 rs184022679 RCV000586687 RCV000620637 CA134721 RCV000037686 |
71 | N>S | RASopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA297106 rs730880999 RCV000766677 RCV000987119 RCV000761086 RCV000159069 |
76 | M>V | LEOPARD syndrome 2 Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA351520840 rs1559438429 RCV000697360 |
88 | V>L | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA273221 RCV000151719 rs727503384 |
95 | C>W | Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs763559779 RCV000619047 RCV000286444 CA2259798 RCV001261027 RCV001855071 |
98 | V>A | RASopathy Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000037687 rs397516818 CA134724 RCV001852784 RCV000680339 |
105 | H>D | RASopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001420550 RCV001855776 RCV000733129 rs1418886913 |
109 | K>missing | RASopathy Noonan syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201792 rs1418886913 |
110 | A>missing | RASopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001196473 rs996417348 CA69623130 RCV001859185 |
111 | R>H | LEOPARD syndrome 2 RASopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs730881000 RCV000703623 CA297109 RCV000159070 |
122 | I>T | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1060503153 CA16611164 RCV000461070 |
124 | E>K | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397516820 RCV001214848 |
127 | Q>* | RASopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2259772 rs775525868 RCV000470868 |
140 | N>K | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs762448032 CA2259757 RCV000559349 |
145 | T>M | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000143943 CA345869 rs587782971 |
151 | F>S | Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000204876 rs367732360 CA349068 |
154 | I>M | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000533531 RCV000619825 RCV000414272 CA2259755 rs775781057 |
161 | N>S | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000255759 RCV001261029 RCV001859486 RCV000576681 rs886039607 CA10588350 |
169 | G>R | LEOPARD syndrome 2 Noonan syndrome RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397516822 RCV000037693 CA261614 |
175 | H>R | Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs757700986 RCV000765707 CA2259726 RCV000498661 RCV000558397 |
201 | I>V | LEOPARD syndrome 2 RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs761703202 RCV000654920 CA2259715 |
216 | R>H | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001028055 rs1575577384 |
220 | S>missing | Noonan syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA351514216 rs1553614191 RCV000557775 |
224 | M>I | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000131337 CA167984 RCV001588987 rs587777588 RCV001857459 RCV001775085 VAR_071844 |
237 | A>T | RASopathy Noonan syndrome 5 CMD1NN; shows a mild increase in kinase activity Noonan syndrome 5 (ns5) Dilated cardiomyopathy 1NN [ClinVar, UniProt, Ensembl] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1559426289 RCV000687987 CA351512662 |
249 | G>V | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000550843 RCV000037699 CA261620 rs397516825 |
256 | R>G | RASopathy Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000159072 VAR_037807 RCV000523940 RCV000037701 CA261625 rs397516826 |
256 | R>S | NS5 RASopathy Noonan syndrome [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001852785 rs397516826 RCV000037700 CA261623 |
256 | R>S | RASopathy Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM3586964 CA235334 rs80338796 COSM181063 VAR_037808 |
257 | S>L | lung large_intestine Noonan syndrome 5 (ns5) NS5 and LPRD2; shows in vitro greater kinase activity and enhanced ERK activation than wild-type [Cosmic, Ensembl, UniProt] | Yes |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP |
|
RCV001869023 CA351512469 RCV000756587 rs727505017 |
257 | S>T | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000421150 rs80338796 RCV000438346 RCV000428540 CA2259699 RCV000417902 COSM581519 |
257 | S>W | lung Noonan syndrome 5 (ns5) Neoplasm of the large intestine Gastric adenocarcinoma Lung adenocarcinoma Malignant melanoma of skin [Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP |
|
CA351512453 rs1575573330 RCV000987118 |
258 | T>R | LEOPARD syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000681048 COSM20741 rs3730271 RCV001250388 RCV000599885 VAR_041037 CA351512423 |
259 | S>A | ovary RASopathy an ovarian serous carcinoma sample; somatic mutation; increased ERK activation [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs397516827 RCV000525018 RCV000159075 CA297115 |
259 | S>C | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000423120 rs397516827 CA339739 RCV000204940 VAR_037809 COSM1536534 |
259 | S>F | lung NS5 RASopathy Noonan syndrome [Cosmic, UniProt, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM1418555 rs3730271 RCV000215259 RCV000781806 CA10576602 |
259 | S>P | Noonan syndrome RASopathy large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000522675 RCV000037698 rs3730271 RCV000159074 CA261617 |
259 | S>T | RASopathy Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001261032 rs397516827 RCV001843945 RCV000037702 CA134750 RCV001250389 RCV000987117 |
259 | S>Y | LEOPARD syndrome 2 Noonan syndrome RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA351512405 RCV000792062 rs869025501 RCV001330997 |
260 | T>K | RASopathy Noonan syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000489188 rs1085307553 CA351512415 RCV001856893 |
260 | T>P | RASopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA261626 rs121434594 VAR_037812 |
261 | P>A | NS5; shows in vitro greater kinase activity and enhanced MAPK1 activation than wild-type Noonan syndrome 5 (ns5) [UniProt, Ensembl] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV000519236 RCV000106325 rs397516828 RCV000211850 CA267618 VAR_037813 |
261 | P>L | Noonan syndrome Noonan syndrome 5 NS5; shows greater kinase activity and enhanced MAPK1 activation than wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000590070 COSM3944801 rs397516828 RCV000037706 COSM308576 RCV000277865 RCV000159077 CA134753 |
261 | P>R | lung biliary_tract RASopathy Noonan syndrome 5 Noonan syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs121434594 VAR_037814 CA257062 |
261 | P>S | NS5; shows in vitro greater kinase activity and enhanced MAPK1 activation than wild-type Noonan syndrome 5 (ns5) [UniProt, Ensembl] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
rs121434594 CA250285 RCV000149827 RCV000037703 |
261 | P>T | RASopathy Noonan syndrome Noonan syndrome 5 (ns5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397516829 RCV000037707 RCV000388842 CA261628 |
262 | N>K | Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001856225 rs1575573204 CA351512363 RCV000788444 |
262 | N>Y | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000686662 rs397516830 RCV000680627 VAR_037815 RCV000442596 CA16602249 |
263 | V>A | NS5; shows in vitro greater kinase activity and enhanced MAPK1 activation than wild-type RASopathy Noonan syndrome Noonan syndrome 3 (ns3) [UniProt, ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs397516830 RCV000586507 RCV000680804 CA351512308 RCV000763093 |
263 | V>D | LEOPARD syndrome 2 Noonan syndrome 3 Noonan syndrome 3 (ns3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000159078 rs397516830 RCV000037708 CA273745 RCV000523845 |
263 | V>G | Noonan syndrome RASopathy Noonan syndrome 3 (ns3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs771675427 RCV000588813 CA2259695 RCV001853987 |
273 | D>E | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000463867 RCV001704143 CA297121 RCV000159080 rs368796800 |
279 | D>N | RASopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs150054973 RCV000250580 RCV000477169 CA2259660 |
285 | S>G | RASopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000230193 rs878854567 CA10582128 |
298 | N>H | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2259632 RCV000522356 RCV000588644 rs775898894 |
303 | T>A | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_071845 rs778155315 CA2259628 |
310 | T>A | CMD1NN; shows a mild increase in kinase activity [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000246938 RCV001256890 CA177679 rs370243307 RCV000680307 RCV000471101 RCV000151711 |
312 | V>A | RASopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001148650 RCV001813505 rs555034652 RCV000549949 RCV001148651 CA2259626 RCV000587682 |
312 | V>M | LEOPARD syndrome 2 Noonan syndrome and Noonan-related syndrome RASopathy Noonan syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000821574 rs757937109 CA2259622 |
318 | R>Q | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA69616484 rs1057403865 VAR_071846 |
332 | P>A | CMD1NN; shows a mild increase in kinase activity [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP |
|
rs551466727 CA16611135 RCV000468958 |
333 | R>C | RASopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
CA183991 RCV000156010 RCV001850143 rs727504719 |
355 | I>V | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000987116 rs397516813 RCV001542563 CA134687 RCV000159081 RCV000473341 RCV000037671 |
361 | G>A | LEOPARD syndrome 2 RASopathy Noonan syndrome Noonan syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000442987 CA16602641 rs1057519815 |
368 | W>S | Melanoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA297118 RCV000867203 RCV000159079 RCV001261134 RCV001813412 RCV000522135 rs559632360 |
381 | D>N | Noonan syndrome with multiple lentigines Noonan syndrome and Noonan-related syndrome RASopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs587782972 RCV000143944 CA345872 |
391 | R>M | Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001265570 rs730880382 RCV002054541 RCV000457242 CA235336 RCV000157687 |
398 | R>L | LEOPARD syndrome 2 Noonan syndrome 5 RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA351771 rs869025502 RCV000208096 |
407 | L>H | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001813271 RCV000159084 RCV001852678 CA297127 rs730881002 |
427 | S>G | Noonan syndrome and Noonan-related syndrome RASopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001148648 RCV001148649 rs747632183 |
431 | K>T | LEOPARD syndrome 2 Noonan syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2259539 rs757591797 RCV000223724 RCV001813432 RCV000249634 |
445 | L>R | Noonan syndrome and Noonan-related syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA351501722 rs886041642 RCV000689605 |
450 | R>L | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs555781462 CA2259532 RCV000412859 RCV000654961 |
452 | T>M | RASopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000159085 rs730881003 RCV000602545 CA297130 RCV001852679 |
475 | F>L | Noonan syndrome RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000434022 rs397516815 RCV000555975 CA261610 RCV000037675 VAR_037816 |
486 | D>G | NS5 RASopathy Noonan syndrome [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000020506 rs80338798 CA341928 VAR_037817 |
486 | D>N | Noonan syndrome with multiple lentigines NS5; has reduced or absent kinase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000766205 rs1553610155 CA351499119 |
489 | L>F | Noonan syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA351499117 rs1553610155 RCV001261138 RCV000658138 |
489 | L>F | Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000523483 rs80338799 RCV000020507 RCV000159086 RCV000037676 RCV000621393 VAR_037818 CA261612 |
491 | T>I | Noonan syndrome with multiple lentigines RASopathy Noonan syndrome Noonan syndrome 5 (ns5) NS5; has reduced or absent kinase activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs80338799 RCV000014988 RCV000680803 VAR_037819 CA257064 |
491 | T>R | NS5 Noonan syndrome 5 Noonan syndrome 5 (ns5) [UniProt, ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1315751104 RCV000654916 COSM1037784 CA351498857 |
506 | T>I | RASopathy endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV000654939 RCV000680628 CA2259458 COSM3673832 COSM3673831 rs775817988 |
552 | N>S | RASopathy prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV000791987 rs1575530552 CA351496946 |
565 | Y>C | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2058277475 RCV001046694 |
571 | S>RS* | RASopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2259423 RCV000700445 rs752063874 |
581 | M>V | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2058275495 RCV001257283 |
586 | A>P | Pituitary stalk interruption syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587777586 CA167980 RCV000131334 VAR_071847 |
603 | L>P | Dilated cardiomyopathy 1NN CMD1NN; shows impaired kinase activity and reduced MAPK3 activation with this mutation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
COSM3846114 RCV000253554 RCV000159088 RCV000654968 rs730881004 CA297133 RCV000765706 COSM3846113 |
605 | S>F | LEOPARD syndrome 2 RASopathy breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_037820 rs1448392469 CA351496102 |
612 | S>T | NS5 [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
rs80338797 RCV000623352 CA351496090 |
613 | L>I | Noonan syndrome 5 (ns5) Inborn genetic diseases [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs80338797 VAR_037821 CA257066 COSM97875 COSM3714356 |
613 | L>V | upper_aerodigestive_tract NS5 and LPRD2; shows in vitro greater kinase activity and enhanced MAPK1 activation than wild-type Noonan syndrome 5 (ns5) [Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated UniProt Ensembl dbSNP |
|
RCV000624045 CA351495773 VAR_071848 RCV000680634 rs1553609795 |
626 | H>R | CMD1NN; shows a mild increase in kinase activity Inborn genetic diseases [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000159091 rs730881006 RCV001253127 RCV001850236 CA297139 |
627 | R>Q | RASopathy Dilated cardiomyopathy 1NN [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs772585174 CA2259373 RCV000699885 |
635 | N>S | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs730881007 RCV000159092 RCV000618752 CA297142 RCV000226660 |
638 | T>M | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000852545 rs587777587 CA167982 RCV000131336 RCV001657807 RCV001849941 VAR_071849 |
641 | T>M | RASopathy CMD1NN; shows a mild increase in kinase activity Primary dilated cardiomyopathy Dilated cardiomyopathy 1NN [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA16611127 RCV000521424 RCV000459639 rs1060503152 |
646 | P>S | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2259853 rs747330424 |
4 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA351485256 rs1575600689 |
6 | G>R | No |
ClinGen Ensembl |
|
|
CA69577094 rs200365094 |
7 | A>G | No |
ClinGen TOPMed |
|
|
CA2259852 rs780550449 |
8 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779001930 CA2259849 |
11 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1382771046 CA351485209 |
13 | N>D | No |
ClinGen TOPMed |
|
|
CA69577049 rs757333753 |
14 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454494958 CA351485179 |
17 | F>S | No |
ClinGen gnomAD |
|
|
CA2259847 rs150944421 |
18 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351485173 rs150944421 |
18 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351485156 rs1438827623 |
20 | A>V | No |
ClinGen TOPMed |
|
|
CA351485153 rs1306287046 |
21 | V>E | No |
ClinGen gnomAD |
|
|
CA351485137 rs1312493403 |
23 | D>E | No |
ClinGen gnomAD |
|
|
rs966682247 CA69577005 |
23 | D>V | No |
ClinGen Ensembl |
|
|
rs1019217338 RCV000681110 CA69576989 |
24 | G>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
RCV000263568 rs886041229 CA10602878 |
26 | S>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1470487278 CA351485109 |
28 | I>V | No |
ClinGen gnomAD |
|
|
RCV000598634 rs1553616654 |
30 | P>missing | No |
ClinVar dbSNP |
|
|
rs1179404518 CA351485095 |
30 | P>H | No |
ClinGen gnomAD |
|
|
CA2259840 rs765857063 |
30 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA351485092 rs1486365900 |
31 | T>P | No |
ClinGen gnomAD |
|
|
rs1575600440 CA351485080 |
33 | V>I | No |
ClinGen Ensembl |
|
|
CA351485070 rs769429487 |
34 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2259838 rs769429487 |
34 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286819839 CA351485063 |
35 | Q>R | No |
ClinGen gnomAD |
|
|
CA351485043 rs576041742 |
38 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747783742 CA2259837 |
38 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs576041742 RCV000619923 CA2259836 |
38 | Y>S | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA201617 rs192632236 |
40 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351485029 rs192632236 |
40 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10576608 rs876657965 |
42 | A>I | No |
ClinGen Ensembl |
|
|
rs756420598 CA2259831 |
44 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA351485007 rs1575600313 |
45 | D>N | No |
ClinGen Ensembl |
|
|
CA2259830 rs752967378 |
48 | L>F | No |
ClinGen ExAC |
|
|
RCV000242585 CA10587562 rs752967378 |
48 | L>V | No |
ClinGen ClinVar ExAC dbSNP |
|
|
rs767460388 CA2259829 |
50 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA69576874 rs150548390 |
52 | S>F | No |
ClinGen Ensembl |
|
|
CA2259828 rs754798801 |
54 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA351484939 rs1375650636 |
55 | S>I | No |
ClinGen gnomAD |
|
|
rs897009059 CA69576869 |
55 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1417918204 CA351484935 |
56 | N>H | No |
ClinGen gnomAD |
|
|
rs141658044 CA69576866 |
57 | T>A | No |
ClinGen TOPMed |
|
|
CA351484926 rs1180734177 |
57 | T>I | No |
ClinGen gnomAD |
|
|
rs141658044 CA69576867 |
57 | T>P | No |
ClinGen TOPMed |
|
|
rs147984543 CA69576859 |
58 | I>F | No |
ClinGen Ensembl |
|
|
rs147984543 CA10576607 |
58 | I>L | No |
ClinGen Ensembl |
|
|
rs949944826 CA69576847 |
63 | P>L | No |
ClinGen Ensembl |
|
|
CA69624845 rs774826078 |
70 | V>I | No |
ClinGen Ensembl |
|
|
CA2259807 rs758426331 |
72 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2259805 COSM1037805 rs140884322 |
73 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA351521223 rs1170758613 |
75 | G>R | No |
ClinGen gnomAD |
|
|
rs1404153791 CA351521207 |
75 | G>V | No |
ClinGen TOPMed |
|
|
CA10581143 RCV000223931 rs876661384 |
79 | H>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1387880716 CA351521108 RCV000762367 |
79 | H>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA351521114 rs1428739154 |
79 | H>Y | No |
ClinGen gnomAD |
|
|
rs761260730 CA2259804 |
80 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2259803 rs753517162 |
83 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs2059225407 RCV001310477 |
87 | K>N | No |
ClinVar dbSNP |
|
|
rs763666757 CA2259802 |
87 | K>R | No |
ClinGen ExAC gnomAD |
|
|
RCV001175279 rs1559438381 CA351520706 |
93 | P>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2259799 rs771199974 |
93 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA351519950 rs1300563950 |
102 | L>P | No |
ClinGen gnomAD |
|
|
RCV000420980 CA16604451 rs1057520880 |
103 | H>Q | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA2259794 rs781571130 |
103 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs896491732 CA69624763 |
104 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs896491732 CA69624760 |
104 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA351518840 rs1471680711 |
108 | K>N | No |
ClinGen gnomAD |
|
|
CA69623160 rs1028785213 |
108 | K>R | No |
ClinGen TOPMed |
|
|
rs397516819 RCV000037689 CA134728 |
110 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000413443 rs773801570 CA2259779 |
111 | R>C | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA351518699 rs1254266485 |
115 | N>T | No |
ClinGen gnomAD |
|
|
COSM3927349 rs1285131074 RCV000617910 CA351518642 COSM3927350 |
116 | T>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs1398525119 CA351518565 |
119 | A>V | No |
ClinGen TOPMed |
|
|
CA134731 rs397516820 RCV000037690 |
127 | Q>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs397516821 RCV000037691 CA134734 |
130 | F>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1559434152 CA351518307 |
132 | D>H | No |
ClinGen Ensembl |
|
|
CA351518269 rs1274532826 |
133 | H>R | No |
ClinGen gnomAD |
|
|
rs1559434089 CA351518157 |
138 | T>A | No |
ClinGen Ensembl |
|
|
RCV000159094 rs730881009 CA297148 |
140 | N>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000621025 rs876657968 RCV000213202 CA10576605 |
140 | N>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
RCV000609710 CA351517860 rs1553614748 |
142 | A>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs750697353 CA2259759 COSM1669975 |
143 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs765690604 CA2259758 |
144 | K>N | No |
ClinGen ExAC gnomAD |
|
|
RCV000414587 rs1057518155 CA16042457 |
145 | T>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000178870 rs794727717 CA246061 |
146 | F>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA351517710 rs1575582986 |
147 | L>V | No |
ClinGen Ensembl |
|
|
RCV000618555 CA351517655 rs1553614733 |
148 | K>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1559433480 RCV000681103 CA351517635 |
149 | L>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1443592793 CA351517262 |
160 | L>V | No |
ClinGen TOPMed |
|
|
CA351517252 rs1559433373 RCV000681216 |
161 | N>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA69622796 rs775781057 |
161 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA16040603 rs1057517813 RCV000412745 |
161 | N>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA69622768 rs1024340685 |
164 | R>* | No |
ClinGen Ensembl |
|
|
rs866261426 CA69622764 |
169 | G>V | No |
ClinGen Ensembl |
|
|
CA2259754 rs772124275 |
170 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
RCV000217431 CA10576604 rs876657969 |
171 | K>R | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs876657969 CA351516866 |
171 | K>T | No |
ClinGen TOPMed |
|
|
rs774200537 CA2259752 |
172 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs770684760 CA2259751 |
174 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA351516729 rs1264689638 |
175 | H>Q | No |
ClinGen gnomAD |
|
|
CA2259750 rs749275497 |
178 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA351516651 rs1232843195 |
178 | T>S | No |
ClinGen TOPMed |
|
|
rs1271531726 CA351516631 RCV000594995 |
179 | K>R | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1483186095 CA351516583 |
181 | P>L | No |
ClinGen gnomAD |
|
|
rs777643693 CA2259749 |
183 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA351516554 rs1222081731 |
183 | M>V | No |
ClinGen TOPMed |
|
|
rs1192517472 CA351516471 |
187 | W>R | No |
ClinGen Ensembl |
|
|
rs755681685 CA2259748 |
188 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA10602362 rs886041230 RCV000316441 |
188 | S>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2259747 rs747545673 |
190 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA351516267 rs1410444633 |
194 | L>* | No |
ClinGen gnomAD |
|
|
CA2259729 rs563575013 |
197 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA351515103 rs1208112942 |
198 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1208112942 CA351515109 |
198 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA2259728 rs746679156 |
199 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA351515076 rs1463627261 |
199 | S>Y | No |
ClinGen gnomAD |
|
|
CA351515059 rs1400058122 |
200 | T>A | No |
ClinGen gnomAD |
|
|
CA69620966 rs369852728 |
201 | I>T | No |
ClinGen gnomAD |
|
|
rs1575577589 CA351514991 |
202 | G>S | No |
ClinGen Ensembl |
|
|
rs1233875932 CA351514932 |
203 | D>H | No |
ClinGen gnomAD |
|
|
rs756643623 CA2259723 |
204 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs756643623 CA351514823 |
204 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA351514768 rs1441036831 |
206 | V>G | No |
ClinGen gnomAD |
|
|
rs767628398 CA69620936 |
208 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA2259721 rs376554439 |
208 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351514669 rs1329039538 |
209 | L>P | No |
ClinGen gnomAD |
|
|
rs751811325 CA2259719 |
210 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2259718 rs766525702 |
213 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs995473632 CA69620923 |
214 | M>T | No |
ClinGen gnomAD |
|
|
rs773051648 CA2259717 COSM246936 |
215 | R>C | endometrium prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs773051648 CA351514500 |
215 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs769629821 CA2259716 |
215 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA351514398 rs1387745696 |
218 | R>Q | No |
ClinGen gnomAD |
|
|
CA69620904 rs997988758 |
220 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs776579912 CA2259714 |
221 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA69620895 rs1023679603 |
222 | S>A | No |
ClinGen Ensembl |
|
|
rs768078996 CA2259713 |
223 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1162264411 CA351514208 |
225 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA351514200 rs1472040007 |
225 | P>L | No |
ClinGen gnomAD |
|
|
rs746448519 CA2259712 |
226 | V>I | No |
ClinGen ExAC gnomAD |
|
|
RCV000159071 rs730881001 CA297112 |
227 | S>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
RCV000179852 CA247160 rs766437069 |
228 | S>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs758689352 CA2259702 |
232 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351513157 rs1320288715 |
234 | T>I | No |
ClinGen TOPMed |
|
|
rs370658857 RCV001310476 |
236 | H>Q | No |
ClinVar dbSNP |
|
|
rs774061937 CA69619519 |
237 | A>G | No |
ClinGen Ensembl |
|
|
rs1420447349 CA351513001 |
239 | T>I | No |
ClinGen gnomAD |
|
|
rs1365584714 CA351512909 |
242 | T>I | No |
ClinGen Ensembl |
|
|
rs1575573477 CA351512885 RCV000788577 |
243 | S>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA351512665 rs1575573452 |
249 | G>S | No |
ClinGen Ensembl |
|
|
CA351512650 rs1220909451 |
250 | S>P | No |
ClinGen gnomAD |
|
|
CA351512618 rs1553613787 RCV000623082 |
251 | L>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1457670031 CA351512576 |
252 | S>F | No |
ClinGen TOPMed |
|
|
rs1368157189 CA351512528 |
254 | R>T | No |
ClinGen gnomAD |
|
|
CA351512478 rs1273749159 |
256 | R>K | No |
ClinGen gnomAD |
|
|
CA351512473 rs1273749159 |
256 | R>T | No |
ClinGen gnomAD |
|
|
CA184835 rs727505017 |
257 | S>P | No |
ClinGen Ensembl |
|
|
CA351512414 rs1085307553 |
260 | T>A | No |
ClinGen gnomAD |
|
|
rs869025501 CA351736 VAR_037810 |
260 | T>I | hypertrophic cardiomyopathy; unknown pathological significance [UniProt] | No |
ClinGen UniProt Ensembl dbSNP |
|
RCV000159095 rs730881010 CA297151 |
262 | N>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA351512348 rs730881010 RCV000788716 |
262 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1057517887 CA16042495 |
264 | H>L | No |
ClinGen TOPMed |
|
|
rs533494009 CA2259697 |
265 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1553613743 RCV000587566 CA351512194 |
268 | T>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs775205011 CA2259696 |
269 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA351512102 rs1458313379 |
271 | P>S | No |
ClinGen TOPMed |
|
|
CA69619388 rs111313099 |
274 | S>G | No |
ClinGen Ensembl |
|
|
CA351511972 rs1425009528 |
275 | R>K | No |
ClinGen gnomAD |
|
|
rs1189618862 CA351511949 |
276 | M>V | No |
ClinGen gnomAD |
|
|
RCV000680950 CA351511915 rs1559425852 |
277 | I>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA351511898 rs1473607252 |
278 | E>G | No |
ClinGen gnomAD |
|
|
rs777757976 CA2259663 |
279 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866680078 CA69617080 |
280 | A>V | No |
ClinGen Ensembl |
|
|
CA351510131 rs1207731590 |
281 | I>V | No |
ClinGen TOPMed |
|
|
CA2259662 rs755926381 |
282 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA351510102 rs755926381 RCV000681424 |
282 | R>G | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA2259661 rs752713997 RCV000598002 COSM1223036 |
282 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1575565653 CA351510080 |
283 | S>N | No |
ClinGen Ensembl |
|
|
rs763657486 CA69617061 |
285 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763657486 CA351509995 |
285 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487959530 CA351509910 |
286 | E>D | No |
ClinGen gnomAD |
|
|
rs147453956 CA2259657 RCV000586626 RCV000412986 |
286 | E>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs147453956 CA2259658 |
286 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2259643 rs373658870 |
288 | A>V | No |
ClinGen ESP ExAC TOPMed |
|
|
CA2259642 rs755977690 |
289 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA2259641 rs752484607 |
290 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2259637 rs191560404 |
295 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2259636 RCV000619430 rs762326811 |
296 | S>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs750078146 CA2259635 |
296 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1161199659 CA351509359 |
298 | N>S | No |
ClinGen gnomAD |
|
|
rs866428774 CA351509266 |
299 | N>I | No |
ClinGen gnomAD |
|
|
rs866428774 CA69616868 |
299 | N>S | No |
ClinGen gnomAD |
|
|
rs1183645997 CA351509244 |
300 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA351509134 rs1575565055 |
303 | T>I | No |
ClinGen Ensembl |
|
|
CA69616839 rs965966296 |
304 | G>V | No |
ClinGen Ensembl |
|
|
CA2259630 rs774670909 |
305 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA10602363 rs886041231 RCV000275940 |
306 | S>L | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA134762 VAR_018840 rs5746220 |
308 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs770199768 CA2259627 |
311 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000392988 rs555034652 CA10602876 |
312 | V>L | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs754710047 CA2259625 |
313 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA2259624 rs746992885 |
314 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2259623 rs759433668 COSM1037798 |
318 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA69616788 rs563042465 |
319 | A>E | No |
ClinGen Ensembl |
|
|
rs749989518 CA2259621 |
319 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1406867543 CA351508438 |
320 | P>S | No |
ClinGen gnomAD |
|
|
CA351508393 rs1156424799 |
321 | V>I | No |
ClinGen gnomAD |
|
|
rs764719098 RCV000413933 CA2259620 |
325 | Q>P | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA2259619 rs756942422 |
330 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs763587948 CA2259596 |
332 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs551466727 CA351508020 |
333 | R>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs755384884 CA2259595 |
333 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA69616453 rs879140376 |
338 | S>* | No |
ClinGen Ensembl |
|
|
RCV000414402 CA16042475 rs1057518084 |
339 | S>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1372834568 CA351507820 |
343 | E>Q | No |
ClinGen gnomAD |
|
|
rs1409906993 CA351507792 |
344 | I>K | No |
ClinGen gnomAD |
|
|
CA2259594 rs751927226 |
344 | I>M | No |
ClinGen ExAC |
|
|
CA351507799 rs1169563312 |
344 | I>V | No |
ClinGen gnomAD |
|
|
rs766763525 CA351507785 |
345 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766763525 CA2259593 |
345 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368860450 CA2259592 |
350 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA69616400 rs946464136 |
353 | T>A | No |
ClinGen Ensembl |
|
|
rs906171410 CA69616395 |
354 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1357778828 RCV000681205 CA351507525 |
356 | G>A | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA2259590 RCV000845526 rs765433002 |
359 | S>P | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1205523835 CA351507446 |
360 | F>V | No |
ClinGen gnomAD |
|
|
rs1368876774 CA351504306 |
371 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA351504150 rs1371588524 |
376 | I>M | No |
ClinGen gnomAD |
|
|
rs1575546549 CA351504153 |
376 | I>T | No |
ClinGen Ensembl |
|
|
CA2259577 rs755790285 |
378 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs559632360 CA351504064 |
381 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1575546471 CA351504024 |
382 | P>S | No |
ClinGen Ensembl |
|
|
rs1458877448 CA351503974 |
383 | T>N | No |
ClinGen gnomAD |
|
|
CA69610228 rs140788943 RCV000680666 |
384 | P>A | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
|
CA351503714 rs1559408893 |
388 | Q>R | No |
ClinGen Ensembl |
|
|
rs941801765 CA69610226 |
389 | A>D | No |
ClinGen Ensembl |
|
|
CA2259575 rs368807126 |
391 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
RCV000397392 rs886042569 CA10604410 |
393 | E>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs3730273 CA69609088 |
409 | M>V | No |
ClinGen Ensembl |
|
|
CA351502472 rs1231291103 |
412 | M>V | No |
ClinGen gnomAD |
|
|
CA297124 RCV000159083 rs201553362 |
415 | D>N | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs774198365 CA2259549 |
416 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351502207 rs1213628538 |
423 | W>C | No |
ClinGen Ensembl |
|
|
rs1575544860 CA351502194 |
424 | C>G | No |
ClinGen Ensembl |
|
|
rs1575544826 CA351502157 |
425 | E>G | No |
ClinGen Ensembl |
|
|
CA69609060 rs3729929 |
425 | E>Q | No |
ClinGen Ensembl |
|
|
rs1364764354 CA351502145 |
426 | G>R | No |
ClinGen gnomAD |
|
|
rs193048400 CA69609026 |
427 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs730881002 CA351502123 |
427 | S>R | No |
ClinGen gnomAD |
|
|
rs193048400 CA2259546 |
427 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA2259544 rs747632183 |
431 | K>R | No |
ClinGen ExAC |
|
|
rs368676608 CA2259543 RCV000681433 |
433 | L>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs764496629 CA69608952 |
437 | E>K | No |
ClinGen Ensembl |
|
|
CA351501894 rs1463012063 |
439 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1131691942 RCV000493168 CA351501858 |
441 | Q>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA351501805 rs1290065008 |
444 | Q>H | No |
ClinGen gnomAD |
|
|
CA2259537 rs374848187 |
446 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA351501780 rs1391168607 |
446 | I>T | No |
ClinGen gnomAD |
|
|
CA2259535 rs752833720 |
447 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA2259536 rs756161359 |
447 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA351501756 rs767580335 |
448 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs767580335 CA2259534 |
448 | I>V | No |
ClinGen ExAC gnomAD |
|
|
RCV000352702 CA10602875 rs886041642 |
450 | R>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA351501623 rs1485014758 |
457 | D>N | No |
ClinGen TOPMed |
|
|
rs188117074 CA69605652 |
458 | Y>C | No |
ClinGen 1000Genomes |
|
|
CA10602873 RCV000301839 rs886041423 |
466 | H>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs759107333 CA2259500 |
474 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs781637309 CA2259496 |
480 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs865862568 CA69603975 |
488 | G>V | No |
ClinGen Ensembl |
|
|
rs1032296179 CA69603960 |
492 | V>A | No |
ClinGen TOPMed |
|
|
COSM3695787 COSM3695788 rs941573221 CA69603933 |
495 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA69603924 COSM99111 COSM3392016 rs546131178 |
495 | R>H | pancreas stomach [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA351499020 rs1245182698 |
498 | G>S | No |
ClinGen gnomAD |
|
|
CA2259493 rs758684190 |
505 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351498881 rs1271437654 |
505 | P>R | No |
ClinGen gnomAD |
|
|
CA351498888 rs758684190 |
505 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2259492 rs758684190 |
505 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778788727 CA2259491 |
506 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2259490 rs571558851 |
508 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA134702 rs397516816 RCV000037678 |
510 | L>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs886042042 CA10602863 RCV000389882 |
512 | M>T | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs149580968 CA2259468 |
518 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1487370393 CA351497933 |
519 | M>L | No |
ClinGen gnomAD |
|
|
rs1553609996 CA351497929 |
519 | M>R | No |
ClinGen Ensembl |
|
|
RCV000520267 CA351497922 rs1553609996 |
519 | M>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs919215380 CA69603366 |
521 | D>E | No |
ClinGen Ensembl |
|
|
rs1046012842 CA69603374 |
521 | D>G | No |
ClinGen TOPMed |
|
|
rs1575531614 CA351497870 |
522 | N>D | No |
ClinGen Ensembl |
|
|
CA351497860 rs1234355211 |
522 | N>S | No |
ClinGen gnomAD |
|
|
CA2259467 rs756160717 |
529 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1255737751 CA351497672 |
532 | Y>H | No |
ClinGen Ensembl |
|
|
COSM174195 CA2259463 rs751232720 |
537 | V>I | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA351497581 rs751232720 |
537 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000159096 rs730881011 CA297154 |
538 | L>* | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs730881011 CA69603282 |
538 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1450208813 CA351497503 |
541 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs553449714 CA69603257 |
542 | M>T | No |
ClinGen gnomAD |
|
|
CA351497399 rs1265418262 |
546 | L>F | No |
ClinGen TOPMed |
|
|
rs1265418262 CA351497401 RCV000618309 |
546 | L>I | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs138119947 CA69603241 |
550 | H>N | No |
ClinGen ESP TOPMed |
|
|
CA351497322 rs1575531376 |
551 | I>M | No |
ClinGen Ensembl |
|
|
rs745876012 CA2259456 |
553 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1411490030 CA351497287 |
553 | N>T | No |
ClinGen TOPMed |
|
|
rs1455454651 RCV000599107 |
553 | N>missing | No |
ClinVar dbSNP |
|
|
CA351497268 rs1345746169 |
554 | R>L | No |
ClinGen TOPMed |
|
|
CA69603219 RCV000592890 rs371704292 |
555 | D>H | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
|
rs1033853285 CA69603213 |
556 | Q>E | No |
ClinGen Ensembl |
|
|
CA2259455 rs774558798 |
556 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA351497078 RCV000781807 rs1559399152 |
558 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1382601768 CA351497065 |
559 | F>V | No |
ClinGen gnomAD |
|
|
CA2259431 rs754942031 RCV000418401 |
560 | M>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
RCV000681431 CA2259430 rs746937683 |
562 | G>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA69602998 rs532786413 |
563 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs727504827 RCV000680316 RCV000156167 CA184304 |
563 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA351496981 RCV000621412 rs1553609909 |
564 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA351496929 rs750077934 |
566 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs750077934 CA2259428 RCV000618501 |
566 | A>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs778476881 CA2259427 |
567 | S>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000213522 rs876657966 CA10576600 |
570 | L>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1183257297 CA351496845 |
571 | S>R | No |
ClinGen gnomAD |
|
|
rs374044897 CA2259426 |
572 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370242565 CA180851 |
574 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA69602886 rs747395643 |
575 | K>N | No |
ClinGen gnomAD |
|
|
CA2259425 rs767890715 |
575 | K>R | No |
ClinGen ExAC gnomAD |
|
|
RCV000781809 CA351496796 rs767890715 |
575 | K>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA2259424 rs760009469 |
580 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA351496658 rs1575530375 |
585 | V>G | No |
ClinGen Ensembl |
|
|
RCV001175062 rs2058275378 |
588 | C>IRTAPKQ* | No |
ClinVar dbSNP |
|
|
rs763060701 CA2259422 |
590 | K>E | No |
ClinGen ExAC gnomAD |
|
|
RCV001579580 rs773583951 RCV000607962 CA2259421 |
590 | K>N | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs769971095 CA2259420 |
592 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs762092886 CA2259419 |
595 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs143037121 CA69602822 |
600 | P>H | No |
ClinGen ESP |
|
|
CA2259418 rs776333930 |
601 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1398402832 RCV000788743 CA351496390 |
601 | Q>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA351496261 rs1420280008 |
603 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA351496240 rs748925179 |
604 | S>C | No |
ClinGen ExAC |
|
|
CA2259388 rs748925179 |
604 | S>F | No |
ClinGen ExAC |
|
|
rs777419371 CA2259387 |
605 | S>A | No |
ClinGen ExAC |
|
|
CA2259385 rs144963661 |
609 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1203300325 CA351496118 |
611 | H>Y | No |
ClinGen gnomAD |
|
|
CA351496095 rs1319525639 |
612 | S>C | No |
ClinGen TOPMed |
|
|
CA351496057 rs1358060804 |
614 | P>L | No |
ClinGen gnomAD |
|
|
CA351496038 rs1349440863 |
615 | K>R | No |
ClinGen TOPMed |
|
|
CA351496007 rs1240899335 |
616 | I>M | No |
ClinGen gnomAD |
|
|
rs933142627 CA351495991 |
617 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs933142627 CA69602361 |
617 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2259382 rs757290878 |
618 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs764432450 CA2259380 |
620 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs865905076 CA69602350 |
620 | A>T | No |
ClinGen Ensembl |
|
|
rs1413563094 CA351495863 |
622 | E>K | No |
ClinGen gnomAD |
|
|
rs373596121 CA2259378 RCV000424840 |
623 | P>S | No |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
|
CA16604447 RCV000678309 rs1057524239 |
624 | S>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs759490895 CA2259376 |
626 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs730881006 CA2259375 |
627 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA297136 rs730881005 RCV000159090 RCV000241753 |
627 | R>W | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs748775135 CA2259374 |
628 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1243841152 CA351495742 |
629 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA351495737 rs1228678241 |
629 | A>V | No |
ClinGen Ensembl |
|
|
CA69602237 rs539938372 |
630 | H>D | No |
ClinGen Ensembl |
|
|
CA351495713 rs1183057432 |
631 | T>A | No |
ClinGen gnomAD |
|
|
rs1440964132 CA351495707 |
631 | T>S | No |
ClinGen gnomAD |
|
|
rs2058255431 RCV001193741 |
632 | E>A | No |
ClinVar dbSNP |
|
|
rs1286582905 CA351495673 |
633 | D>E | No |
ClinGen gnomAD |
|
|
rs1352545039 CA351495682 |
633 | D>Y | No |
ClinGen TOPMed |
|
|
rs1013186582 CA69602224 |
634 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA351495602 rs1269157146 |
637 | C>G | No |
ClinGen TOPMed |
|
|
rs769639669 RCV001193136 CA2259372 |
637 | C>Y | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1183812590 CA351495498 |
641 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs587777587 CA351495480 |
641 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319851022 CA351495452 |
642 | S>F | No |
ClinGen gnomAD |
|
|
rs1382398408 CA351495437 |
643 | P>L | No |
ClinGen gnomAD |
|
|
RCV000220865 rs876657967 CA10576599 |
643 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
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CA2259368 rs753992423 |
644 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
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rs730881008 RCV000159093 CA297145 |
647 | V>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
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rs760591831 CA69602087 |
648 | F>S | No |
ClinGen Ensembl |
|
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rs752860196 CA2259367 |
648 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
3 associated diseases with P04049
[MIM: 611553]: Noonan syndrome 5 (NS5)
A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. {ECO:0000269|PubMed:17603482, ECO:0000269|PubMed:17603483, ECO:0000269|PubMed:20683980}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 611554]: LEOPARD syndrome 2 (LPRD2)
A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness. {ECO:0000269|PubMed:17603483}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 615916]: Cardiomyopathy, dilated 1NN (CMD1NN)
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:24777450}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. {ECO:0000269|PubMed:17603482, ECO:0000269|PubMed:17603483, ECO:0000269|PubMed:20683980}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness. {ECO:0000269|PubMed:17603483}. 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:24777450}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR23257 | SERINE-THREONINE PROTEIN KINASE |
| PANTHER Subfamily | PTHR23257:SF763 | RAF PROTO-ONCOGENE SERINE_THREONINE-PROTEIN KINASE |
| PANTHER Protein Class |
non-receptor serine/threonine protein kinase
protein modifying enzyme |
|
| PANTHER Pathway Category | No pathway information available | |
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| mitochondrial outer membrane | The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope. |
| 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. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| pseudopodium | A temporary protrusion or retractile process of a cell, associated with flowing movements of the protoplasm, and serving for locomotion and feeding. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| identical protein binding | Binding to an identical protein or proteins. |
| 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. |
| protein serine/threonine/tyrosine kinase activity | Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
28 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of adenylate cyclase activity | Any process that initiates the activity of the inactive enzyme adenylate cyclase. |
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| death-inducing signaling complex assembly | A process of protein complex assembly in which the arrangement and bonding together of the set of components that form the protein complex is mediated by a death domain (DD) interaction, as part of the extrinsic apoptotic signaling pathway. |
| face development | The biological process whose specific outcome is the progression of a face from an initial condition to its mature state. The face is the ventral division of the head. |
| insulin secretion involved in cellular response to glucose stimulus | The regulated release of proinsulin from secretory granules (B granules) in the B cells of the pancreas; accompanied by cleavage of proinsulin to form mature insulin, in response to a glucose stimulus. |
| intermediate filament cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising intermediate filaments and their associated proteins. |
| 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. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of a cysteine-type endopeptidase activity involved in the apoptotic process. |
| negative regulation of extrinsic apoptotic signaling pathway via death domain receptors | Any process that stops, prevents or reduces the frequency, rate or extent of extrinsic apoptotic signaling pathway via death domain receptors. |
| negative regulation of protein-containing complex assembly | Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex assembly. |
| neurotrophin TRK receptor signaling pathway | The series of molecular signals initiated by neurotrophin binding to its receptor on the surface of a target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| positive regulation of MAPK cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade. |
| positive regulation of peptidyl-serine phosphorylation | Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-serine. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of apoptotic process | Any process that modulates the occurrence or rate of cell death by apoptotic process. |
| regulation of cell differentiation | Any process that modulates the frequency, rate or extent of cell differentiation, the process in which relatively unspecialized cells acquire specialized structural and functional features. |
| regulation of cell motility | Any process that modulates the frequency, rate or extent of cell motility. |
| regulation of Rho protein signal transduction | Any process that modulates the frequency, rate or extent of Rho protein signal transduction. |
| response to muscle stretch | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a myofibril being extended beyond its slack length. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| somatic stem cell population maintenance | Any process by which an organism retains a population of somatic stem cells, undifferentiated cells in the embryo or adult which can undergo unlimited division and give rise to cell types of the body other than those of the germ-line. |
| thymus development | The process whose specific outcome is the progression of the thymus over time, from its formation to the mature structure. The thymus is a symmetric bi-lobed organ involved primarily in the differentiation of immature to mature T cells, with unique vascular, nervous, epithelial, and lymphoid cell components. |
| thyroid gland development | The process whose specific outcome is the progression of the thyroid gland over time, from its formation to the mature structure. The thyroid gland is an endoderm-derived gland that produces thyroid hormone. |
| wound healing | The series of events that restore integrity to a damaged tissue, following an injury. |
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 |
| P10398 | ARAF | Serine/threonine-protein kinase A-Raf | Homo sapiens (Human) | PR |
| P15056 | BRAF | Serine/threonine-protein kinase B-raf | Homo sapiens (Human) | EV |
| Q8NB16 | MLKL | Mixed lineage kinase domain-like protein | Homo sapiens (Human) | EV |
| P04627 | Araf | Serine/threonine-protein kinase A-Raf | Mus musculus (Mouse) | PR |
| 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 |
| O19004 | ARAF | Serine/threonine-protein kinase A-Raf | Sus scrofa (Pig) | PR |
| P14056 | Araf | Serine/threonine-protein kinase A-Raf | Rattus norvegicus (Rat) | PR |
| P11345 | Raf1 | RAF proto-oncogene serine/threonine-protein kinase | Rattus norvegicus (Rat) | SS |
| 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 |
| MEHIQGAWKT | ISNGFGFKDA | VFDGSSCISP | TIVQQFGYQR | RASDDGKLTD | PSKTSNTIRV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FLPNKQRTVV | NVRNGMSLHD | CLMKALKVRG | LQPECCAVFR | LLHEHKGKKA | RLDWNTDAAS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LIGEELQVDF | LDHVPLTTHN | FARKTFLKLA | FCDICQKFLL | NGFRCQTCGY | KFHEHCSTKV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PTMCVDWSNI | RQLLLFPNST | IGDSGVPALP | SLTMRRMRES | VSRMPVSSQH | RYSTPHAFTF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NTSSPSSEGS | LSQRQRSTST | PNVHMVSTTL | PVDSRMIEDA | IRSHSESASP | SALSSSPNNL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SPTGWSQPKT | PVPAQRERAP | VSGTQEKNKI | RPRGQRDSSY | YWEIEASEVM | LSTRIGSGSF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GTVYKGKWHG | DVAVKILKVV | DPTPEQFQAF | RNEVAVLRKT | RHVNILLFMG | YMTKDNLAIV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TQWCEGSSLY | KHLHVQETKF | QMFQLIDIAR | QTAQGMDYLH | AKNIIHRDMK | SNNIFLHEGL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TVKIGDFGLA | TVKSRWSGSQ | QVEQPTGSVL | WMAPEVIRMQ | DNNPFSFQSD | VYSYGIVLYE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LMTGELPYSH | INNRDQIIFM | VGRGYASPDL | SKLYKNCPKA | MKRLVADCVK | KVKEERPLFP |
| 610 | 620 | 630 | 640 | ||
| QILSSIELLQ | HSLPKINRSA | SEPSLHRAAH | TEDINACTLT | TSPRLPVF |