Variant · Snv

BRAF K601E

CI-VAR-00002150Explore in graph →NP_004324.2:p.Lys601GluNM_004333.4:c.1801A>GClinVar 13966 CIViC 584 rs121913364

Curated evidence

Evidence by cancer (7 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–7 of 7 evidence items across 5 cancer contexts on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Cutaneous Melanoma2
BRAF K601E	Dabrafenib	Predictive	B	Supports Sensitivity Response	—	submitted	EID2812 In a study of 197 metastatic melanoma patients, BRAF mutations were identified in 95 patients including V600E (n=70), V600K (n=19), K601E (n=1) and D594N (n=1). Patients were treated with a specific R… (full text at CIViC) PMID 21343559 · Long et al., 2011 · Open in CIViC	civic
BRAF K601E	Trametinib + VemurafenibSubstitutes	Predictive	D	Supports Sensitivity Response	3	accepted	EID1462 Preclinical study in 293H cell line. Ectopic expression of V600E, L597R/Q/S, and K601E mutants elevated phospho-MEK and ERK levels. Vemurafenib treatment of all of the BRAF mutant–expressing cells led… (full text at CIViC) PMID 22798288 · Dahlman et al., 2012 ·

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
13966	Pathogenic	criteria provided, single submitter	1	Thyroid cancer, nonmedullary, 2; Carcinoma of colon; Non-small cell lung carcinoma; Lung adenocarcinoma; Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype; Neuroblastoma; Neoplasm	somatic	5	Aug 23, 2011	clinvar

Malignant Colorectal Neoplasm1
BRAF V600E OR BRAF K601E	Cobimetinib + VemurafenibCombination	Predictive	B	Supports Sensitivity Response	3	accepted	EID11670 This clinical study was conducted with 30 patients with colorectal cancer harboring BRAF V600E (n = 29) or BRAF K601E (n=1) mutations, treated with a combination of cobimetinib and vemurafenib. Of the… (full text at CIViC) PMID 36409971 · Klute et al., 2022 · Open in CIViC	civic

Malignant Colorectal Neoplasm1

BRAF V600E OR BRAF K601E

Cobimetinib + VemurafenibCombination

Predictive

Supports Sensitivity Response

accepted

EID11670

This clinical study was conducted with 30 patients with colorectal cancer harboring BRAF V600E (n = 29) or BRAF K601E (n=1) mutations, treated with a combination of cobimetinib and vemurafenib. Of the… (full text at CIViC)

PMID 36409971 · Klute et al., 2022 · Open in CIViC

civic

Malignant Neoplasm1
BRAF K601E	Vemurafenib	Predictive	B	Does Not Support Sensitivity Response	3	submitted	EID5963 The phase 2a MyPathway study assigned patients with HER2, EGFR, BRAF or SHH alterations to treatment with pertuzumab plus trastuzumab, erlotinib, vemurafenib, or vismodegib, respectively. Of 26 patien… (full text at CIViC) PMID 29320312 · Hainsworth et al., 2018 · Open in CIViC	civic

Malignant Neoplasm1

BRAF K601E

Vemurafenib

Predictive

Does Not Support Sensitivity Response

submitted

EID5963

The phase 2a MyPathway study assigned patients with HER2, EGFR, BRAF or SHH alterations to treatment with pertuzumab plus trastuzumab, erlotinib, vemurafenib, or vismodegib, respectively. Of 26 patien… (full text at CIViC)

PMID 29320312 · Hainsworth et al., 2018 · Open in CIViC

civic

Melanoma1
BRAF K601E	BRAF Inhibitor	Predictive	B	Does Not Support Sensitivity Response	4	submitted	EID7622 In a retrospective study from 20 institutes in 4 countries, the efficacy of BRAF inhibitor and/or MEK inhibitor in patients with melanoma harboring BRAF nonV600E/K mutations were evaluated. Treated wi… (full text at CIViC) PMID 31580757 · Menzer et al., 2019 · Open in CIViC	civic

Melanoma1

BRAF K601E

BRAF Inhibitor

Predictive

Does Not Support Sensitivity Response

submitted

EID7622

In a retrospective study from 20 institutes in 4 countries, the efficacy of BRAF inhibitor and/or MEK inhibitor in patients with melanoma harboring BRAF nonV600E/K mutations were evaluated. Treated wi… (full text at CIViC)

PMID 31580757 · Menzer et al., 2019 · Open in CIViC

civic

Unmapped disease2unmapped disease
BRAF K601E	(functional)	Functional	D	Supports Gain Of Function	5	submitted	EID12920 BRAF p.Lys601Glu (NM_004333.6:c.1801A>G) causes increased pERK/ERK ratio. PMID 15035987 · Wan et al., 2004 · Open in CIViC	civic
BRAF K601E	(functional)	Functional	D	Supports Gain Of Function	4	submitted	EID12921 BRAF p.Lys601Glu (NM_004333.6:c.1801A>G) causes increased phosphorylation of substrate of BRAF. PMID 28783719 · Yao et al., 2017 · Open in CIViC	civic

Unmapped disease2unmapped disease

BRAF K601E

(functional)

Functional

Supports Gain Of Function

submitted

EID12920

BRAF p.Lys601Glu (NM_004333.6:c.1801A>G) causes increased pERK/ERK ratio.

PMID 15035987 · Wan et al., 2004 · Open in CIViC

civic

BRAF K601E

(functional)

Functional

Supports Gain Of Function

submitted

EID12921

BRAF p.Lys601Glu (NM_004333.6:c.1801A>G) causes increased phosphorylation of substrate of BRAF.

PMID 28783719 · Yao et al., 2017 · Open in CIViC

civic