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Here you can see the gene and the variant being analyzed.

We summarize a large amount of clinical data on this gene here. Links are added where available to source information.

Prediction information is summarized here, the percentage shows the likelihood that the variant is pathogenic.

Agreement is a measure (out of 5 stars) of how much our predictors agree between each other. When predictors agree, the prediction is more likely to be correct.

Data quality is a measure (out of 5 stars) of how good the underlying data for this prediction is. This is an assessment of the depth of our alignments and the number of structures available, among other factors.

This table shows literature for this exact position and protein, if it is available.

This table shows literature for this position in homologous proteins, if it is available.

This is a description of our prediction.

This plot illustrates the agreement between different classifiers. If the prediction distributions align on one side it indicates increased certainty in the prediction.

This describes the data quality for this position.

Here are the four factors that contributed most to the prediction. Factors that contributed to a benign prediction are colored blue, pathogenic factors are colored red.

This plot shows all the factors for prediction. Factors that contributed to a benign prediction are colored blue, pathogenic factors are colored red.

This plot shows the conservation on this position.

Here the conservation statistics are described.

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This is a list of interactions we found for this position.

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Summary

BRAF - ENST00000646891

Gene BRAF - ENSG00000157764 | ENSP00000493543 | ENST00000646891
Ensembl | RefSeq | UniProt
Location GRCh38 7:140730665-140924928 Ensembl UCSC
Description B-Raf proto-oncogene, serine/threonine kinase

Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus. May play a role in the postsynaptic responses of hippocampal neuron. Phosphorylates MAP2K1, and thereby contributes to the MAP kinase signal transduction pathway. {ECO:0000269|PubMed:21441910}.;

Condition(s)
  • Cardiofaciocutaneous syndrome 1 (CFC1)

    A multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and mental retardation. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices.
    The disease is caused by mutations affecting the gene represented in this entry. OMIM

    MedGen: C0028326 C4551602 C1857486 C0950123 C3150971 C0279680 CN029449 C1275081 OrphaNet: 1340 648

  • Familial non-Hodgkin lymphoma (NHL)

    Cancer that starts in cells of the lymph system, which is part of the body's immune system. NHLs can occur at any age and are often marked by enlarged lymph nodes, fever and weight loss.
    The gene represented in this entry is involved in disease pathogenesis. OMIM

    MedGen: C0279680 C0206686 C0553723 OrphaNet: 29073 547

  • Lung cancer (LNCR)

    A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis.
    The gene represented in this entry is involved in disease pathogenesis. OMIM

    MedGen: C0028326 C0677865 C0007131 C0175704 C0279680 C0684249 C0027651 OrphaNet: 648 98733 1340 500 67037

  • Colorectal cancer (CRC)

    A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.
    The disease may be caused by mutations affecting the gene represented in this entry. OMIM

    MedGen: C0025202 C0023434 C4225426 OrphaNet: 213569 98733 360

  • Noonan syndrome 7 (NS7)

    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.
    The disease is caused by mutations affecting the gene represented in this entry. OMIM

    MedGen: C3150970 C0684249 C0025202 C1275081 OrphaNet: 98733 1340

  • LEOPARD syndrome 3 (LPRD3)

    A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness.
    The disease is caused by mutations affecting the gene represented in this entry. OMIM

    MedGen: C1275081 C3150970 OrphaNet: 98733

Sequence
MAALSGGGGG
10
GAEPGQALFN
20
GDMEPEAGAG
30
AGAAASSAAD
40
PAIPEEVWNI
50
KQMIKLTQEH
60
IEALLDKFGG
70
EHNPPSIYLE
80
AYEEYTSKLD
90
ALQQREQQLL
100
ESLGNGTDFS
110
VSSSASMDTV
120
TSSSSSSLSV
130
LPSSLSVFQN
140
PTDVARSNPK
150
SPQKPIVRVF
160
LPNKQRTVVP
170
ARCGVTVRDS
180
LKKALMMRGL
190
IPECCAVYRI
200
QDGEKKPIGW
210
DTDISWLTGE
220
ELHVEVLENV
230
PLTTHNFVRK
240
TFFTLAFCDF
250
CRKLLFQGFR
260
CQTCGYKFHQ
270
RCSTEVPLMC
280
VNYDQLDLLF
290
VSKFFEHHPI
300
PQEEASLAET
310
ALTSGSSPSA
320
PASDSIGPQI
330
LTSPSPSKSI
340
PIPQPFRPAD
350
EDHRNQFGQR
360
DRSSSAPNVH
370
INTIEPVNID
380
DLIRDQGFRG
390
DGGSTTGLSA
400
TPPASLPGSL
410
TNVKALQKSP
420
GPQRERKSSS
430
SSEDRNRMKT
440
LGRRDSSDDW
450
EIPDGQITVG
460
QRIGSGSFGT
470
VYKGKWHGDV
480
AVKMLNVTAP
490
TPQQLQAFKN
500
EVGVLRKTRH
510
VNILLFMGYS
520
TKPQLAIVTQ
530
WCEGSSLYHH
540
LHIIETKFEM
550
IKLIDIARQT
560
AQGMDYLHAK
570
SIIHRDLKSN
580
NIFLHEDLTV
590
KIGDFGLATV
600
KSRWSGSHQF
610
EQLSGSILWM
620
APEVIRMQDK
630
NPYSFQSDVY
640
AFGIVLYELM
650
TGQLPYSNIN
660
NRDQIIFMVG
670
RGYLSPDLSK
680
VRSNCPKAMK
690
RLMAECLKKK
700
RDERPLFPQI
710
LASIELLARS
720
LPKIHRSASE
730
PSLNRAGFQT
740
EDFSLYACAS
750
PKTPIQAGGY
760
GAFPVH
766
PDB and PDB position 5vam,4e26 ~> 600 (Explore)
gnomAD Exome Allele Frequency: 3.979941e-06
Genome Allele Frequency: None
gnomAD
Pathogenicity
94%
Agreement: Data quality:
Literature for Val600 in BRAF 261 papers describing variants for residue Val600 in BRAF are available. (Explore)
Literature for similar variants in homologous proteins 3275 papers describing similar variants in proteins homologous to BRAF are available. (Explore)
Older predictions

Literature

Helix prediction details

Prediction: pathogenic 94%

The Val600Glu mutation in the protein has been classified as pathogenic by our ensemble classifier system, with very high confidence. There is a 91% agreement between all subclassifiers.

Data quality

Data quality for this region is considered good. This means that enhanced, deep alignments are present and there is a variety of data for the algorithm to predict from.

Prediction factors

External models have estimated which sets of features contributed primarily to the classification. These sets of features are listed here.

Primary contributing factors

  • Residue differences point towards pathogenic
  • Gene vulnerability points towards pathogenic
  • Position features point towards pathogenic
  • Structural features point towards pathogenic

Evolutionary pressure

Conservation

The wildtype was observed in 7.75% of the 156606 sequences analyzed. The variant type was observed in 11.48% of observed sequences.


This residue is involved in 5 Hydrophobic interactions.

Interaction statistics were calculated using advanced molecular optimization techniques and may not be visible in the plain PDB file. Please download the YASARA scene to explore the interactions in more detail.