Gene Variant Detail

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Gene BRAF
Variant I592_A598dup
Impact List duplication
Protein Effect unknown
Gene Variant Descriptions BRAF I592_A598dup indicates the insertion of seven duplicate amino acids, isoleucine (I)-592 through alanine (A)-598, in the protein kinase domain of the Braf protein (UniProt.org). I592_A598dup has been identified in sequencing studies (PMID: 27571181, PMID: 29615459), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF I592_A598dup

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Transcript NM_004333.6
gDNA chr7:g.140753341_140753361
cDNA c.1774_1794
Protein p.I592_A598
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354609.2 chr7:g.140753341_140753361 c.1774_1794 p.I592_A598 RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753341_140753361 c.1774_1794 p.I592_A598 RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753341_140753361 c.1774_1794 p.I592_A598 RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753341_140753361 c.1774_1794 p.I592_A598 RefSeq GRCh38/hg38
NM_004333 chr7:g.140753359_140753360insGCAAGACCAAAGTCACCGATT c.1776_1777insATCGGTGACTTTGGTCTTGCA p.I592_A598dup RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References