Gene Variant Detail

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Gene BRAF
Variant W531C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF W531C lies within the protein kinase domain of the Braf protein (UniProt.org). W531C results in the weak activation of MEK signaling and does not induce transformation in cell culture (PMID: 19206169), but in two different cell lines, W531C demonstrates increased cell proliferation and viability as compared to wild-type Braf (PMID: 29533785), and demonstrates increased Mek and Erk signaling in drosophila (PMID: 33855281), and therefore, its effect on Braf protein function is unknown.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF W531C

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Transcript NM_004333.6
gDNA chr7:g.140777013C>A
cDNA c.1593G>T
Protein p.W531C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333 chr7:g.140777013C>A c.1593G>T p.W531C RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140777013C>A c.1593G>T p.W531C RefSeq GRCh38/hg38
XM_005250045 chr7:g.140777013C>A c.1593G>T p.W531C RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140777013C>A c.1593G>T p.W531C RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140777013C>A c.1593G>T p.W531C RefSeq GRCh38/hg38
NM_001378475.1 chr7:g.140753278C>A c.1593G>T p.W531C RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140777013C>A c.1593G>T p.W531C RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140777013C>A c.1593G>T p.W531C RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140777013C>A c.1593G>T p.W531C RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140777013C>A c.1593G>T p.W531C RefSeq GRCh38/hg38

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