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Gene | BRAF |
Variant | A598_T599insARC |
Impact List | insertion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | BRAF A598_T599insARC results in the insertion of three amino acids in the protein kinase domain of the Braf protein between amino acids 598 and 599 (UniProt.org). BRAF A598_T599insARC has not been characterized however, other insertions between A598 and T599 are activating (PMID: 16501605), and therefore, A598_T599insARC is predicted to lead to a gain of Braf protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF A598_T599insARC |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753341_140753342insCACCTTGCA |
cDNA | c.1794_1795insGCAAGGTGT |
Protein | p.A598_T599insARC |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354609.1 | chr7:g.140753341_140753342insCACCTTGCA | c.1794_1795insGCAAGGTGT | p.A598_T599insARC | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140753341_140753342insCACCTTGCA | c.1794_1795insGCAAGGTGT | p.A598_T599insARC | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140753341_140753342insCACCTTGCA | c.1794_1795insGCAAGGTGT | p.A598_T599insARC | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140753341_140753342insCACCTTGCA | c.1794_1795insGCAAGGTGT | p.A598_T599insARC | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140753341_140753342insCACCTTGCA | c.1794_1795insGCAAGGTGT | p.A598_T599insARC | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140753341_140753342insCACCTTGCA | c.1794_1795insGCAAGGTGT | p.A598_T599insARC | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140753341_140753342insCACCTTGCA | c.1794_1795insGCAAGGTGT | p.A598_T599insARC | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140753341_140753342insCACCTTGCA | c.1794_1795insGCAAGGTGT | p.A598_T599insARC | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
BRAF A598_T599insARC | gain of function - predicted | MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor |