Gene Variant Detail

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Gene BRAF
Variant V600E
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF V600E (previously reported as V599E) lies within the activation segment of the kinase domain of the Braf protein (PMID: 15035987). V600E confers a gain of function to the Braf protein as demonstrated by increased Braf kinase activity, downstream signaling, and the ability to transform cells in culture (PMID: 15035987, PMID: 29533785, PMID: 18697864).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF V600E/K BRAF V600E

BRAF mutant BRAF V600X BRAF V600E/K BRAF V600E

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Transcript NM_004333.6
gDNA chr7:g.140753336A>T
cDNA c.1799T>A
Protein p.V600E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354609.2 chr7:g.140753336A>T c.1799T>A p.V600E RefSeq GRCh38/hg38
NM_004333 chr7:g.140753336A>T c.1799T>A p.V600E RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753336A>T c.1799T>A p.V600E RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753336A>T c.1799T>A p.V600E RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753336A>T c.1799T>A p.V600E RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753336A>T c.1799T>A p.V600E RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753336A>T c.1799T>A p.V600E RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753336A>T c.1799T>A p.V600E RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
BRAF V600E gain of function BRAF Inhibitor MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor RAF Inhibitor (Pan)
BRAF V600E NRAS Q61K
BRAF L505H BRAF V600E
BRAF V600E MAP2K1 C121S
BRAF V600E PIK3CA P449T
BRAF V600E NRAS G12V
BRAF V600E MAP2K1 L115P
BRAF V600E MAP2K1 I103N
BRAF V600E MAP2K1 V211D
BRAF V600E MAP2K1 P387S NRAS A146T
BRAF V600E NRAS A146T
BRAF V600E MAP2K1 P387S NRAS Q61K
BRAF V600E MAP2K1 K59del
BRAF V600E MAP2K1 P387S NRAS Q61K NRAS A146T
BRAF V600E MAP2K1 Q56P
BRAF V600E NRAS Q61K NRAS A146T
BRAF V600E PTEN loss
BRAF V600E CDKN2A mut
BRAF T529N BRAF V600E
BRAF T529M BRAF V600E
BRAF T529I BRAF V600E
BRAF V600E MAP2K1 H119P
BRAF V600E MAP2K1 V60E
BRAF V600E MAP2K1 P124S
BRAF V600E MAP2K1 G128V
BRAF V600E MAP2K1 P162S
BRAF V600E PTEN wild-type
BRAF V600E MAP2K1 K57E
BRAF V600E MAP2K1 P124Q
BRAF V600E BRAF amp
BRAF V600E PIK3CA H1047R
BRAF V600E PIK3CA P449T TP53 R273H
BRAF V600E PIK3CA H1047R TP53 wild-type
BRAF V600E PTEN loss TP53 wild-type
BRAF V600E PIK3CA H1047K
BRAF V600E PIK3CA mut
BRAF V600E PTEN mut
BRAF V600E TP53 Q192K
BRAF V600E MAP2K1 I111N
BRAF V600E MAP2K1 E203K
BRAF V600E MAP2K1 P124L
BRAF L514V BRAF V600E
BRAF V600E MAP2K1 K57T
BRAF V47_D380del BRAF V600E
BRAF V600E NRAS G13R
BRAF V600E NRAS amp
BRAF V600E NRAS over exp
BRAF V600E PTEN Y27C
BRAF V600E PTEN del
BRAF V600E MAP2K1 I99T
BRAF V600E MAP2K1 I99G
BRAF V600E MAP2K1 I99M
BRAF V600E BRAF V600M
BRAF V600E CDKN2A R80*
BRAF V600E BRAF over exp
BRAF T119S BRAF V600E
BRAF V600E TP53 C176R
BRAF V600E MAP2K1 Q56P NRAS Q61R
BRAF V600E FGFR2 A553D
BRAF V600E PIK3CA E545K
BRAF V600E CDKN2A loss CHEK2 dec exp RB1 pos
BRAF V600E CDKN2A loss NRAS Q61K
BRAF V600E CDKN2A loss NRAS G12V
BRAF I463W BRAF V600E
BRAF L485S BRAF V600E
BRAF V600E MAP2K1 S218D MAP2K1 S222D
BRAF V600E MAP2K1 L115R
BRAF V600E TET2 V1199E
BRAF V600E CBL dec exp
BRAF N486_P490del BRAF R509H BRAF V600E
BRAF R509H BRAF V600E
BRAF V600E MAP2K1 F53S
BRAF V600E MAP2K1 D67N
BRAF V600E MAP2K1 Y134C
BRAF V600E MAP2K1 P264L
BRAF V600E MAP2K1 K57N
BRAF V600E NRAS Q61L
BRAF S365L BRAF V600E
BRAF V600E PIK3CA H1047R PTEN Y68fs
EML4 - ALK BRAF V600E
BRAF V600E BRAF K601_W604del
BRAF V600E MAP2K1 K4N
BRAF V600E MAP2K1 A14S
BRAF V600E MAP2K1 R47Q
BRAF V600E MAP2K1 R49C
BRAF V600E MAP2K1 R49H
BRAF V600E MAP2K1 S72G
BRAF V600E MAP2K1 A76V
BRAF V600E MAP2K1 G79V
BRAF V600E MAP2K1 S86A
BRAF V600E MAP2K1 V93F
BRAF V600E MAP2K1 M94I
BRAF V600E MAP2K1 R96K
BRAF V600E MAP2K1 A106T
BRAF V600E MAP2K1 R108Q
BRAF V600E MAP2K1 A132V
BRAF V600E MAP2K1 D136N
BRAF V600E MAP2K1 M146I
BRAF V600E MAP2K1 S150F
BRAF V600E MAP2K1 V154I
BRAF V600E MAP2K1 R201C
BRAF V600E MAP2K1 R201H
BRAF V600E MAP2K1 V224M
BRAF V600E MAP2K1 L235H
BRAF V600E MAP2K1 W247*
BRAF V600E MAP2K1 V258I
BRAF V600E MAP2K1 P264S
BRAF V600E MAP2K1 G294E
BRAF V600E MAP2K1 P306H
BRAF V600E MAP2K1 I310L
BRAF V600E MAP2K1 S327T
BRAF V600E MAP2K1 S331R
BRAF V600E MAP2K1 D336H
BRAF V600E MAP2K1 R349K
BRAF V600E MAP2K1 N382H
BRAF V600E MAP2K1 P387S
BRAF V600E MAP2K1 S200Y
BRAF V600E MAP2K1 Y229H
BRAF V600E MAP2K1 S231L
BRAF V600E MAP2K1 R291K
BRAF V600E MAP2K1 P293S
BRAF V600E MAP2K1 P326H
BRAF V600E MAP2K1 N345T
BRAF V600E MAP2K1 S212N
BRAF V600E MAP2K1 E367K
BRAF V600E MAP2K1 R49L
BRAF V600E MAP2K1 V127M
BRAF V600E MAP2K1 G176S
BRAF V600E MAP2K1 P193S
BRAF V600E MAP2K1 L215F
BRAF V600E MAP2K1 D351G
BRAF V600E MAP2K1 F53_Q58delinsL
BRAF V600E MAP2K1 F53I
BRAF V600E MAP2K1 I99_K104del
BRAF V600E MAP2K1 L54P
BRAF V600E MAP2K1 K57_G61del
BRAF V600E MAP2K1 Q58_E62del
BRAF V600E MAP2K1 G61_D65del
BRAF V600E MAP2K1 L63_D67del
BRAF V600E MAP2K1 I111S
BRAF V600E MAP2K1 I204T
BRAF V600E MAP2K1 E102_I103del
BRAF V600E MAP2K1 P105_A106del
BRAF V600E MAP2K1 F53C
BRAF V600E MAP2K1 F53L
BRAF V600E MAP2K1 F53V
BRAF V600E MAP2K1 F53Y
BRAF V600E MAP2K1 D67Y
BRAF V600E MAP2K1 I103_K104del
BRAF V600E MAP2K1 G128D
BRAF V600E MAP2K1 E203V
BRAF V600E MAP2K1 Q58*
BRAF V600E MAP2K1 H119Y
BRAF V600E MAP2K1 F129L
BRAF V600E PTEN N329fs
BRAF V600E MAP2K1 Q56_G61delinsR
BRAF V600E MAP2K1 D303N
BRAF V600E MAP2K1 G276W
BRAF V600E MAP2K1 S241Y
BRAF V600E MAP2K1 H100_I103delinsPL
ALK G1202R ALK R1275Q BRAF V600E
BRAF V47_M438del BRAF V600E
BRAF V600E NRAS Q61R
BRAF V600E NRAS Q61H
BRAF V600E PIK3CA E542K
BRAF V600E PIK3CA N1044S
BRAF V600E PIK3CA M1043I
BRAF V600E PIK3CA W11C PIK3CA E542K
BRAF del exon4-8 BRAF V600E
BRAF del exon2-8 BRAF V600E
BRAF del exon4-10 BRAF V600E
BRAF del exon2-10 BRAF V600E
BRAF V600E PTEN R173C
BRAF V600E IDH1 R132C