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(Q28371521)
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BRAF V600K
genetic variant
V600K
VAL600LYS
RS121913227
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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/563
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/563
genomic start
140453136
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/563
genomic end
140453137
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/563
biological variant of
BRAF
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/563
positive therapeutic predictor for
vemurafenib
medical condition treated
melanoma
determination method
CIViC evidence level B
rating
CIViC 4-star trust rating
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/1399
stated in
Safety and efficacy of vemurafenib in BRAF(V600E) and BRAF(V600K) mutation-positive melanoma (BRIM-3): extended follow-up of a phase 3, randomised, open-label study
vemurafenib
medical condition treated
melanoma
determination method
CIViC evidence level C
rating
CIViC 3-star trust rating
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/1400
stated in
Long Term Survival and Continued Complete Response of Vemurafenib in a Metastatic Melanoma Patient with BRAF V600K Mutation
Dabrafenib / Trametinib combination therapy
determination method
CIViC evidence level B
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/4181
stated in
Improved overall survival in melanoma with combined dabrafenib and trametinib
Dabrafenib / Trametinib combination therapy
determination method
CIViC evidence level B
rating
CIViC 4-star trust rating
medical condition treated
melanoma
2 references
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/6179
stated in
Adjuvant Dabrafenib plus Trametinib in Stage III BRAF-Mutated Melanoma.
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/6965
stated in
Combined vemurafenib and cobimetinib in BRAF-mutated melanoma
vemurafenib
determination method
CIViC evidence level B
rating
CIViC 3-star trust rating
medical condition treated
melanoma
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/4180
stated in
A multicenter DeCOG study on predictors of vemurafenib therapy outcome in melanoma: pretreatment impacts survival.
trametinib
determination method
CIViC evidence level B
rating
CIViC 2-star trust rating
medical condition treated
melanoma
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/2506
stated in
Improved survival with MEK inhibition in BRAF-mutated melanoma
Identifiers
CIViC variant ID
563
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/563
dbSNP Reference SNP number
rs121913227
1 reference
stated in
CIViC database
HGVS nomenclature
NP_004324.2:p.Val600Lys
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/563
NM_004333.4:c.1798_1799delGTinsAA
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/563
NC_000007.13:g.140453136_140453137delinsTT
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/563
ENST00000288602.6:c.1798_1799delinsAA
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/563
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