BRAF T488_Q493delinsK
Gene Variant Detail

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Gene BRAF
Variant T488_Q493delinsK
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions BRAF T488_Q493delinsK results in the deletion of six amino acids in the protein kinase domain of the Braf protein from amino acids 488 to 493, combined with the insertion of a lysine (K) at the same site (UniProt.org). T488_Q493delinsK has not been characterized, however, is predicted to lead to a gain of protein function due to other characterized BRAF deletions in the same region (PMID: 26732095).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF T488_Q493delinsK

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Transcript NM_004333.6
gDNA chr7:g.140778031_140778045del15
cDNA c.1463_1477del15
Protein p.T488_Q493delinsK
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378468.1 chr7:g.140778031_140778045del15 c.1463_1477del15 p.T488_Q493delinsK RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140778031_140778045del15 c.1463_1477del15 p.T488_Q493delinsK RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140778031_140778045del15 c.1463_1477del15 p.T488_Q493delinsK RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140778031_140778045del15 c.1463_1477del15 p.T488_Q493delinsK RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140778031_140778045del15 c.1463_1477del15 p.T488_Q493delinsK RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140778031_140778045del15 c.1463_1477del15 p.T488_Q493delinsK RefSeq GRCh38/hg38
NM_004333 chr7:g.140778031_140778045del15 c.1463_1477del15 p.T488_Q493delinsK RefSeq GRCh38/hg38
XM_005250045 chr7:g.140778031_140778045del15 c.1463_1477del15 p.T488_Q493delinsK RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140778031_140778045del15 c.1463_1477del15 p.T488_Q493delinsK RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries