BRAF V600K (Q28371521)

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genetic variant

V600K
VAL600LYS
RS121913227

Language	Label	Description	Also known as
English	BRAF V600K	genetic variant	V600K VAL600LYS RS121913227

Statements

missense mutation

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/563

human chromosome 7

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/563

140453136

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/563

140453137

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/563

biological variant of

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/563

positive therapeutic predictor for

medical condition treated

determination method

CIViC evidence level B

CIViC 4-star trust rating

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/1399

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

medical condition treated

determination method

CIViC evidence level C

CIViC 3-star trust rating

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/1400

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

CIViC 3-star trust rating

medical condition treated

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/4181

Improved overall survival in melanoma with combined dabrafenib and trametinib

determination method

CIViC evidence level B

CIViC 3-star trust rating

medical condition treated

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/4180

A multicenter DeCOG study on predictors of vemurafenib therapy outcome in melanoma: pretreatment impacts survival.

determination method

CIViC evidence level B

CIViC 2-star trust rating

medical condition treated

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/2506

Improved survival with MEK inhibition in BRAF-mutated melanoma

Identifiers

CIViC variant ID

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/563

dbSNP Reference SNP number

1 reference

HGVS nomenclature

NP_004324.2:p.Val600Lys

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/563

NM_004333.4:c.1798_1799delGTinsAA

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/563

NC_000007.13:g.140453136_140453137delinsTT

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/563

ENST00000288602.6:c.1798_1799delinsAA

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/563

Sitelinks

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Wiktionary(0 entries)

Multilingual sites(0 entries)

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