Gene Variant Detail

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Gene BRAF
Variant V600_K601delinsEN
Impact List indel
Protein Effect unknown
Gene Variant Descriptions BRAF V600_K601delinsEN results in deletion of a valine (V) and a lysine (L) in the protein kinase domain of the Braf protein from amino acids 600 to 601, combined with the insertion of a glutamic acid (E) and an asparagine (N) at the same site (UniProt.org). V600_K601delinsEN has not been characterized and therefore, its effect on Braf protein function is unknown (PubMed, Sep 2024).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF V600_K601delinsEN

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Transcript NM_004333.6
gDNA chr7:g.140753332_140753337delinsGTTCTC
cDNA c.1798_1803delinsGAGAAC
Protein p.V600_K601delinsEN
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378468.1 chr7:g.140753332_140753337delinsGTTCTC c.1798_1803delinsGAGAAC p.V600_K601delinsEN RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753332_140753337delinsGTTCTC c.1798_1803delinsGAGAAC p.V600_K601delinsEN RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753332_140753337delinsGTTCTC c.1798_1803delinsGAGAAC p.V600_K601delinsEN RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753332_140753337delinsGTTCTC c.1798_1803delinsGAGAAC p.V600_K601delinsEN RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753332_140753337delinsGTTCTC c.1798_1803delinsGAGAAC p.V600_K601delinsEN RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753332_140753337delinsGTTCTC c.1798_1803delinsGAGAAC p.V600_K601delinsEN RefSeq GRCh38/hg38

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