Gene Variant Detail

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Gene BRAF
Variant L597P
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF L597P lies within the protein kinase domain of the Braf protein (UniProt.org). L597P has been identified in the scientific literature (PMID: 33777142), 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 L597X BRAF L597P

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Transcript NM_004333.6
gDNA chr7:g.140753345A>G
cDNA c.1790T>C
Protein p.L597P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005250045 chr7:g.140753345A>G c.1790T>C p.L597P RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753345A>G c.1790T>C p.L597P RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753345A>G c.1790T>C p.L597P RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753345A>G c.1790T>C p.L597P RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753345A>G c.1790T>C p.L597P RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140749333_140749334delTTinsCC c.1789_1790delTTinsCC p.L597P RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140749333_140749334delTTinsCC c.1789_1790delTTinsCC p.L597P RefSeq GRCh38/hg38
NM_004333 chr7:g.140753345A>G c.1790T>C p.L597P RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753345A>G c.1790T>C p.L597P RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753345A>G c.1790T>C p.L597P RefSeq GRCh38/hg38

Filtering

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