Gene Detail

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Gene Symbol BRAF
Synonyms B-raf | B-RAF1 | BRAF1 | NS7 | RAFB1
Gene Description BRAF, serine/threonine-protein kinase B-raf, is a member of the Raf family of serine/threonine protein kinases, which signals through the MAP kinase pathway to regulate cell proliferation and cell growth (PMID: 24737949, PMID: 29540830). BRAF mutations and fusions have been identified in a variety of cancers, including, colorectal (PMID: 30122982), lung (PMID: 29729495), thyroid (PMID: 12970315), and melanoma (PMID: 24737949), and a number of mutations have also been demonstrated to confer drug resistance (PMID: 27478040).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A598X missense unknown BRAF A598X indicates any Braf missense mutation that results in replacement of the alanine (A) at amino acid 598 by a different amino acid.
D594X missense unknown BRAF D594X indicates any Braf missense mutation that results in replacement of the aspartic acid (D) at amino acid 594 by a different amino acid.
E586X missense unknown BRAF E586X indicates any Braf missense mutation that results in replacement of the glutamic acid (E) at amino acid 586 by a different amino acid.
F595X missense unknown BRAF F595X indicates any Braf missense mutation that results in replacement of the phenylalanine (F) at amino acid 595 by a different amino acid.
G464X missense unknown BRAF G464X indicates any Braf missense mutation that results in replacement of the glycine (G) at amino acid 464 by a different amino acid.
G466X missense unknown BRAF G466X indicates any Braf missense mutation that results in replacement of the glycine (G) at amino acid 466 by a different amino acid.
G469X missense unknown BRAF G469X indicates any Braf missense mutation that results in replacement of the glycine (G) at amino acid 469 by a different amino acid.
G596X missense unknown BRAF G596X indicates any Braf missense mutation that results in replacement of the glycine (G) at amino acid 596 by a different amino acid.
I463X missense unknown BRAF I463X indicates any Braf missense mutation that results in replacement of the isoleucine (I) at amino acid 463 by a different amino acid.
K601X missense unknown BRAF K601X indicates any Braf missense mutation that results in replacement of the lysine (K) at amino acid 601 by a different amino acid.
L485X missense unknown BRAF L485X indicates any Braf missense mutation that results in replacement of the leucine (L) at amino acid 485 by a different amino acid.
L597X missense unknown BRAF L597X indicates any Braf missense mutation that results in replacement of the leucine (L) at amino acid 597 by a different amino acid.
N581X missense unknown BRAF N581X indicates any Braf missense mutation that results in replacement of the asparagine (N) at amino acid 581 by a different amino acid.
P367X missense unknown BRAF P367X indicates any Braf missense mutation that results in replacement of the proline (P) at amino acid 367 by a different amino acid.
Q257X missense unknown BRAF Q257X indicates any Braf missense mutation that results in replacement of the glutamine (Q) at amino acid 257 by a different amino acid.
R462X missense unknown BRAF R462X indicates any Braf missense mutation that results in replacement of the arginine (R) at amino acid 462 by a different amino acid.
S467X missense unknown BRAF S467X indicates any Braf missense mutation that results in replacement of the serine (S) at amino acid 467 by a different amino acid.
T241X missense unknown BRAF T241X indicates any Braf missense mutation that results in replacement of the threonine (T) at amino acid 241 by a different amino acid.
T599X missense unknown BRAF T599X indicates any Braf missense mutation that results in replacement of the threonine (T) at amino acid 599 by a different amino acid.
V600X missense unknown BRAF V600X indicates any Braf missense mutation that results in replacement of the the valine (V) at amino acid 600 by a different amino acid. BRAF V600 mutations are hotspot mutations that often result in increased Braf kinase activity (PMID: 15035987).
act mut unknown gain of function BRAF act mut indicates that this variant results in a gain of function in the Braf protein. However, the specific amino acid change has not been identified.
fusion fusion unknown BRAF fusion indicates a fusion of the BRAF gene, but the fusion partner is unknown.
inact mut unknown loss of function BRAF inact mut indicates that this variant results in a loss of function of the Braf protein. However, the specific amino acid change has not been identified.
mutant unknown unknown BRAF mutant indicates an unspecified mutation in the BRAF gene.
rearrange unknown unknown BRAF rearrangement indicates an unspecified rearrangement of the BRAF gene.
V600E/K missense gain of function BRAF V600E/K indicates a mutation that results in the replacement of the valine (V) at amino acid 600 of the Braf protein by either a glutamate (E) or lysine (K). V600E/K mutations are hotspot mutations in Braf that result in increased Braf kinase activity (PMID: 15035987).
G596fs frameshift loss of function - predicted BRAF G596fs results in a change in the amino acid sequence of the Braf protein beginning at aa 596 of 766, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the disruption of the protein kinase domain (UniProt.org), G596fs is predicted to lead to a loss of Braf protein function.
P403fs frameshift loss of function - predicted BRAF P403fs results in a change in the amino acid sequence of the Braf protein beginning at aa 403 of 766, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), P403fs is predicted to lead to a loss of Braf protein function.
V600fs frameshift loss of function - predicted BRAF V600fs results in a change in the amino acid sequence of the Braf protein beginning at aa 600 of 766, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the disruption of the protein kinase domain, V600fs is predicted to lead to a loss of Braf protein function (UniProt.org).