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(Q28371565)
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BRAF D594G
genetic variant
ASP594GLY
D594G
RS121913338
In more languages
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Statements
instance of
missense mutation
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/611
chromosome
human chromosome 7
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/611
genomic start
140453154
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/611
genomic end
140453154
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/611
biological variant of
BRAF
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/611
positive therapeutic predictor for
sorafenib
determination method
CIViC evidence level D
rating
CIViC 3-star trust rating
medical condition treated
skin melanoma
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/6001
stated in
CRAF inhibition induces apoptosis in melanoma cells with non-V600E BRAF mutations
trametinib
determination method
CIViC evidence level D
rating
CIViC 2-star trust rating
medical condition treated
cancer
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/7760
stated in
Tumours with class 3 BRAF mutants are sensitive to the inhibition of activated RAS.
vemurafenib
determination method
CIViC evidence level D
rating
CIViC 3-star trust rating
medical condition treated
cancer
statement disputed by
Tumours with class 3 BRAF mutants are sensitive to the inhibition of activated RAS.
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/7556
stated in
Tumours with class 3 BRAF mutants are sensitive to the inhibition of activated RAS.
negative therapeutic predictor for
cetuximab
medical condition treated
colorectal cancer
statement disputed by
Colorectal Cancer with BRAF D594G Mutation Is Not Associated with Microsatellite Instability or Poor Prognosis
determination method
CIViC evidence level C
rating
CIViC 1-star trust rating
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/1554
stated in
Colorectal Cancer with BRAF D594G Mutation Is Not Associated with Microsatellite Instability or Poor Prognosis
panitumumab
medical condition treated
colorectal cancer
statement disputed by
Colorectal Cancer with BRAF D594G Mutation Is Not Associated with Microsatellite Instability or Poor Prognosis
determination method
CIViC evidence level C
rating
CIViC 1-star trust rating
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/1554
stated in
Colorectal Cancer with BRAF D594G Mutation Is Not Associated with Microsatellite Instability or Poor Prognosis
irinotecan / Cetuximab combination therapy
determination method
CIViC evidence level C
rating
CIViC 3-star trust rating
medical condition treated
colorectal cancer
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/4472
stated in
Mutations of KRAS/NRAS/BRAF predict cetuximab resistance in metastatic colorectal cancer patients
irinotecan / Cetuximab combination therapy
determination method
CIViC evidence level C
rating
CIViC 3-star trust rating
medical condition treated
colorectal cancer
statement disputed by
Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/2201
stated in
Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis
negative prognostic predictor for
colorectal cancer
determination method
CIViC evidence level B
rating
CIViC 1-star trust rating
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/1551
stated in
Colorectal Cancer with BRAF D594G Mutation Is Not Associated with Microsatellite Instability or Poor Prognosis
colorectal cancer
determination method
CIViC evidence level B
rating
CIViC 2-star trust rating
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/1553
stated in
Colorectal Cancer with BRAF D594G Mutation Is Not Associated with Microsatellite Instability or Poor Prognosis
Identifiers
CIViC variant ID
611
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/611
dbSNP Reference SNP number
rs121913338
1 reference
stated in
CIViC database
HGVS nomenclature
NM_004333.4:c.1781A>G
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/611
NP_004324.2:p.Asp594Gly
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/611
NC_000007.13:g.140453154T>C
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/611
ENST00000288602.6:c.1781A>G
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/611
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