BRAF (B-Raf proto-oncogene, serine/threonine kinase)
|
| Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
673 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
B-Raf proto-oncogene, serine/threonine kinase |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
BRAF |
SynonymsGene synonyms aliases
|
B-RAF1, B-raf, BRAF1, NS7, RAFB1 |
ChromosomeChromosome number
|
7 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
7q34 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene, most commonly the V600E mutation, are the most frequently identified cancer-causing mutations in melanoma, and have been identified in various other cancers as well, including non-Hodgkin lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and adenocarcinoma of lung. Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. A pseudogene of this gene has been identified on the X chromosome. [provided by RefSeq, Aug 2017] |
SNPsSNP information provided by dbSNP.
|
| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs113488022 |
A>C,G,T |
Pathogenic, likely-pathogenic, uncertain-significance, other, drug-response |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs121913225 |
A>G |
Likely-pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs121913226 |
TTT>- |
Likely-pathogenic |
Non coding transcript variant, inframe deletion, intron variant, coding sequence variant |
| rs121913227 |
AC>CT,TT |
Drug-response, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs121913335 |
T>G |
Likely-pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs121913336 |
G>C,T |
Likely-pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs121913337 |
A>C,T |
Pathogenic, likely-pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs121913338 |
T>A,C,G |
Uncertain-significance, pathogenic, likely-pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs121913340 |
C>T |
Uncertain-significance, likely-pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs121913341 |
A>C,T |
Pathogenic, likely-pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs121913348 |
C>A,G,T |
Pathogenic-likely-pathogenic, uncertain-significance, pathogenic, likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs121913349 |
C>G,T |
Pathogenic, likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs121913351 |
C>A,G,T |
Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs121913353 |
C>G,T |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs121913355 |
C>A,G,T |
Pathogenic, likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs121913357 |
C>A,G,T |
Uncertain-significance, pathogenic, likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, stop gained |
| rs121913361 |
C>A,G,T |
Uncertain-significance, pathogenic, likely-pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs121913362 |
T>C |
Likely-pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs121913363 |
T>C |
Likely-pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs121913364 |
T>C,G |
Pathogenic, likely-pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs121913365 |
T>A,G |
Likely-pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs121913366 |
A>C,T |
Pathogenic, likely-pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs121913368 |
AG>GA |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs121913369 |
G>A,C |
Pathogenic, likely-pathogenic |
Missense variant, synonymous variant, intron variant, non coding transcript variant, coding sequence variant |
| rs121913370 |
T>C,G |
Likely-pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs121913371 |
G>A,T |
Likely-pathogenic |
Non coding transcript variant, synonymous variant, missense variant, coding sequence variant |
| rs121913372 |
CT>AA |
Likely-pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs121913373 |
C>T |
Likely-pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs121913375 |
G>A,C |
Uncertain-significance, pathogenic, likely-pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs121913376 |
C>A,T |
Uncertain-significance, likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs121913377 |
CA>AT,TT |
Pathogenic, likely-pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs121913378 |
C>A,G,T |
Pathogenic, likely-pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs180177032 |
C>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs180177033 |
A>C |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs180177034 |
C>G |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs180177035 |
T>C |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs180177036 |
C>A,G |
Uncertain-significance, pathogenic, likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs180177037 |
T>C,G |
Uncertain-significance, pathogenic-likely-pathogenic, pathogenic, likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs180177038 |
C>G,T |
Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs180177039 |
T>A,C,G |
Pathogenic, likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs180177040 |
T>C,G |
Pathogenic, likely-pathogenic |
Non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs180177041 |
C>G |
Pathogenic, likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs180177042 |
A>C,T |
Not-provided, pathogenic, likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs387906660 |
G>A,C,T |
Likely-pathogenic, pathogenic, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs387906661 |
T>G |
Pathogenic-likely-pathogenic, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs397507465 |
T>G |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs397507466 |
T>A,C,G |
Likely-pathogenic, pathogenic |
Synonymous variant, non coding transcript variant, missense variant, coding sequence variant |
| rs397507467 |
A>G |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs397507469 |
G>T |
Likely-pathogenic, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs397507470 |
G>T |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs397507473 |
A>G |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs397507474 |
T>C,G |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs397507475 |
A>G |
Likely-pathogenic, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs397507476 |
T>A,G |
Pathogenic-likely-pathogenic, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs397507477 |
G>A |
Likely-pathogenic, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs397507478 |
C>A,G |
Likely-pathogenic, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs397507479 |
C>T |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs397507480 |
A>C |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, intron variant |
| rs397507481 |
G>C,T |
Likely-pathogenic, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, intron variant |
| rs397507483 |
C>A,T |
Likely-pathogenic, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, intron variant |
| rs397507484 |
T>A,C,G |
Likely-pathogenic, pathogenic, not-provided |
Non coding transcript variant, missense variant, coding sequence variant, intron variant |
| rs397509343 |
A>C |
Likely-pathogenic, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs397516890 |
TCC>- |
Pathogenic |
Non coding transcript variant, inframe deletion, coding sequence variant |
| rs397516891 |
G>C |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs397516892 |
G>T |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs397516893 |
A>C |
Likely-pathogenic, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs397516894 |
G>A,C |
Pathogenic, not-provided |
Non coding transcript variant, missense variant, coding sequence variant, intron variant |
| rs397516895 |
A>T |
Likely-pathogenic, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, intron variant |
| rs397516896 |
C>G,T |
Likely-pathogenic, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, intron variant |
| rs397516897 |
TCA>- |
Likely-pathogenic |
Non coding transcript variant, inframe indel, coding sequence variant, intron variant |
| rs397516903 |
A>C,G |
Likely-pathogenic, pathogenic, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs397516904 |
T>C,G |
Likely-pathogenic, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs397516905 |
C>G |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs606231228 |
C>A,G |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs727502902 |
->TAG |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, inframe insertion |
| rs727502904 |
G>A,T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, intron variant, non coding transcript variant, missense variant |
| rs727504375 |
T>G |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs749287111 |
T>C,G |
Likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, missense variant |
| rs794727865 |
G>C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, non coding transcript variant, synonymous variant |
| rs794729219 |
A>G |
Pathogenic, likely-pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, missense variant |
| rs869025340 |
A>C,G,T |
Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs869025606 |
A>C |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs869025607 |
GTT>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, inframe deletion |
| rs886041264 |
A>T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs1038048880 |
C>G,T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs1057517915 |
C>A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant, intron variant |
| rs1057518105 |
C>G |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs1057519718 |
CA>TC |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant, intron variant |
| rs1057519719 |
T>C |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs1057519720 |
CC>AA,GA |
Pathogenic, likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs1131692058 |
TCTACA>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, splice acceptor variant, intron variant |
| rs1325951163 |
C>G,T |
Likely-pathogenic, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs1481562268 |
C>A,T |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant, non coding transcript variant |
| rs1562931107 |
G>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, intron variant |
| rs1562955153 |
->ACT |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, inframe insertion |
| rs1562956929 |
->CAAATGATCCAGATCCAATTC |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, inframe insertion |
| rs1562957000 |
T>C |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs1585930903 |
C>T |
Likely-pathogenic |
Intron variant, missense variant, coding sequence variant, non coding transcript variant |
| rs1585998247 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
| rs1586015221 |
G>A |
Likely-pathogenic |
Intron variant, missense variant, coding sequence variant, non coding transcript variant |
| rs1586126439 |
AGGTGCTGTCACATT>- |
Drug-response |
Inframe deletion, coding sequence variant, non coding transcript variant |
| rs1586126581 |
T>G |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs1586126644 |
GC>TT |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs1586140436 |
TGTTCC>- |
Likely-pathogenic |
Inframe deletion, coding sequence variant, non coding transcript variant |
| rs1586140512 |
T>G |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs1586213318 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs1586237312 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
| GO ID |
Ontology |
Definition |
Evidence |
Reference |
| GO:0000165 |
Process |
MAPK cascade |
IDA |
18567582 |
| GO:0000165 |
Process |
MAPK cascade |
TAS |
|
| GO:0000186 |
Process |
Activation of MAPKK activity |
IDA |
29433126 |
| GO:0004672 |
Function |
Protein kinase activity |
IBA |
21873635 |
| GO:0004672 |
Function |
Protein kinase activity |
IDA |
17563371 |
| GO:0004672 |
Function |
Protein kinase activity |
IMP |
29433126 |
| GO:0004674 |
Function |
Protein serine/threonine kinase activity |
IDA |
18567582, 19667065 |
| GO:0005509 |
Function |
Calcium ion binding |
IDA |
18567582 |
| GO:0005515 |
Function |
Protein binding |
IPI |
12620389, 15161933, 15778465, 16810323, 16888650, 17380122, 17563371, 17979178, 18567582, 20130576, 20141835, 21441910, 21478863, 21625473, 22169110, 22510884, 22939624, 23153539, 23680146, 23934108, 24255178, 24441586, 24746704, 25155755, 25241761, 25437913, 25600339, 26165597, 264 |
| GO:0005524 |
Function |
ATP binding |
IEA |
|
| GO:0005634 |
Component |
Nucleus |
IEA |
|
| GO:0005829 |
Component |
Cytosol |
IDA |
|
| GO:0005829 |
Component |
Cytosol |
TAS |
|
| GO:0005886 |
Component |
Plasma membrane |
IBA |
21873635 |
| GO:0005886 |
Component |
Plasma membrane |
TAS |
|
| GO:0006468 |
Process |
Protein phosphorylation |
IDA |
17563371 |
| GO:0007173 |
Process |
Epidermal growth factor receptor signaling pathway |
IDA |
18567582 |
| GO:0009887 |
Process |
Animal organ morphogenesis |
TAS |
9207797 |
| GO:0010628 |
Process |
Positive regulation of gene expression |
IMP |
22065586 |
| GO:0010828 |
Process |
Positive regulation of glucose transmembrane transport |
IDA |
23010278 |
| GO:0031267 |
Function |
Small GTPase binding |
IPI |
12194967 |
| GO:0033138 |
Process |
Positive regulation of peptidyl-serine phosphorylation |
IDA |
19667065 |
| GO:0042802 |
Function |
Identical protein binding |
IPI |
16858395, 19727074, 22169110, 22510884, 25155755, 25437913 |
| GO:0043066 |
Process |
Negative regulation of apoptotic process |
IDA |
19667065 |
| GO:0043231 |
Component |
Intracellular membrane-bounded organelle |
IDA |
|
| GO:0070374 |
Process |
Positive regulation of ERK1 and ERK2 cascade |
IDA |
22065586 |
| GO:0070413 |
Process |
Trehalose metabolism in response to stress |
IMP |
9837904 |
| GO:0071277 |
Process |
Cellular response to calcium ion |
IDA |
18567582 |
| GO:0090150 |
Process |
Establishment of protein localization to membrane |
IDA |
23010278 |
| GO:0097110 |
Function |
Scaffold protein binding |
IPI |
18567582 |
| GO:0106310 |
Function |
Protein serine kinase activity |
IEA |
|
| GO:0106311 |
Function |
Protein threonine kinase activity |
IEA |
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
| Protein
|
| UniProt ID |
P15056 |
| Protein name |
Serine/threonine-protein kinase B-raf (EC 2.7.11.1) (Proto-oncogene B-Raf) (p94) (v-Raf murine sarcoma viral oncogene homolog B1) |
| Protein function |
Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus (Probable). Phosphorylates MAP2K1, and thereby activates the MAP kinase signal transduction pathway (PubMed:21441910, PubMed:29433126). May play a role in the postsynaptic responses of hippocampal neurons (PubMed:1508179). |
| PDB |
1UWH
,
1UWJ
,
2FB8
,
2L05
,
3C4C
,
3D4Q
,
3IDP
,
3II5
,
3NY5
,
3OG7
,
3PPJ
,
3PPK
,
3PRF
,
3PRI
,
3PSB
,
3PSD
,
3Q4C
,
3Q96
,
3SKC
,
3TV4
,
3TV6
,
4CQE
,
4DBN
,
4E26
,
4E4X
,
4EHE
,
4EHG
,
4FC0
,
4FK3
,
4G9C
,
4G9R
,
4H58
,
4JVG
,
4KSP
,
4KSQ
,
4MBJ
,
4MNE
,
4MNF
,
4PP7
,
4R5Y
,
4RZV
,
4RZW
,
4WO5
,
4XV1
,
4XV2
,
4XV3
,
4XV9
,
4YHT
,
5C9C
,
5CSW
,
5CSX
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF02196 |
RBD |
156 → 225 |
Raf-like Ras-binding domain |
Domain |
| PF00130 |
C1_1 |
235 → 282 |
Phorbol esters/diacylglycerol binding domain (C1 domain) |
Domain |
| PF07714 |
PK_Tyr_Ser-Thr |
457 → 714 |
Protein tyrosine and serine/threonine kinase |
Domain |
|
Sequence |
|
| Sequence length |
766 |
| Interactions |
View interactions |
|
|
