Gene Variant Detail

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Gene BRAF
Variant H585Y
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions BRAF H585Y lies within the protein kinase domain of the Braf protein (UniProt.org). H585Y has not been biochemically characterized, but demonstrates decreased transformation ability in cell culture (PMID: 29533785), and therefore, is predicted to lead to a loss of Braf protein function.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF inact mut BRAF H585Y

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Transcript NM_004333.6
gDNA chr7:g.140753382G>A
cDNA c.1753C>T
Protein p.H585Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354609.1 chr7:g.140753382G>A c.1753C>T p.H585Y RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753382G>A c.1753C>T p.H585Y RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753382G>A c.1753C>T p.H585Y RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753382G>A c.1753C>T p.H585Y RefSeq GRCh38/hg38
NM_004333 chr7:g.140753382G>A c.1753C>T p.H585Y RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753382G>A c.1753C>T p.H585Y RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753382G>A c.1753C>T p.H585Y RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753382G>A c.1753C>T p.H585Y RefSeq GRCh38/hg38

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