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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 |
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_004333 | 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_004333.6 | 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 |
XM_005250045 | chr7:g.140778031_140778045del15 | c.1463_1477del15 | p.T488_Q493delinsK | RefSeq | GRCh38/hg38 |
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 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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