chr7:140453136:AC>CG Detail (hg19) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,453,136-140,453,137
hg38 chr7:140,753,336-140,753,337 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1918_1919delinsCG NP_004324.2:p.Val640Arg
Ensemble ENST00000288602.11:c.1918_1919delinsCG ENST00000288602.11:p.Val640Arg
ENST00000496384.7:c.1798_1799delinsCG ENST00000496384.7:p.Val600Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 164757 OMIM
HGNC 1097 HGNC
Ensembl ENSG00000157764 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM1583011 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.055 Neoplasm Metastasis In melanoma, V600K mutations in comparison to other BRAF mutations were associat... BeFree 22039425 Detail
0.005 leukemia In a patient with a BRAF(V600K)-mutant melanoma responding to vemurafenib, we ob... BeFree 24589925 Detail
0.431 melanoma The strong gain-of-function mutation, V600R, of BRAF found in melanomas and othe... BeFree 20843808 Detail
0.431 melanoma We have treated 45 patients with V600 mutated melanoma including patients with V... BeFree 23237741 Detail
0.049 Metastatic melanoma BRAF inhibitor activity in V600R metastatic melanoma. BeFree 23237741 Detail
0.431 melanoma Here we report the discovery of a novel BRAF mutation that confers resistance to... BeFree 24283590 Detail
0.001 Secondary malignant neoplasm of lung In melanoma, V600K mutations in comparison to other BRAF mutations were associat... BeFree 22039425 Detail
0.006 Metastatic melanoma Studies presented or published during the European Society for Medical Oncology ... BeFree 25477091 Detail
0.049 Metastatic melanoma Trametinib, as compared with chemotherapy, improved rates of progression-free an... BeFree 22663011 Detail
0.431 melanoma In total, we found 21 (70%) out of 30 melanoma cell lines with BRAF mutations in... BeFree 15948220 Detail
0.002 Stage IV Skin Melanoma In this phase 3 trial, we randomly assigned 423 previously untreated patients wh... BeFree 25265492 Detail
0.005 melanoma Since patients diagnosed with BRAF V600E and V600K mutated advanced melanoma sho... BeFree 25037456 Detail
0.049 Metastatic melanoma We enrolled previously untreated patients with BRAF Val600Glu or Val600Lys mutat... BeFree 26037941 Detail
<0.001 melanoma CAST-PCR gave rapid and accurate results for the common V600E and V600K mutation... BeFree 23584600 Detail
0.431 melanoma Next, of the 15 archived melanoma FNAs tested, BRAF mutations were observed in 8... BeFree 21793228 Detail
0.049 Metastatic melanoma Dabrafenib plus trametinib, as compared with vemurafenib monotherapy, significan... BeFree 25399551 Detail
0.049 Metastatic melanoma Distinguishing clinicopathologic features of patients with V600E and V600K BRAF-... BeFree 22535154 Detail
0.002 Stage IV Skin Melanoma We enrolled previously untreated patients with BRAF Val600Glu or Val600Lys mutat... BeFree 26037941 Detail
0.236 melanoma To determine whether specific mutations are clinically important to differentiat... BeFree 23922205 Detail
0.049 Metastatic melanoma Studies presented or published during the European Society for Medical Oncology ... BeFree 25477091 Detail
0.431 melanoma Safety and efficacy of vemurafenib in BRAF(V600E) and BRAF(V600K) mutation-posit... BeFree 24508103 Detail
0.431 melanoma Among the 20 melanomas with completed BRAF-sequencing analysis, 6 (30%) harbored... BeFree 22809251 Detail
0.431 melanoma The somatic affairs of BRAF: tailored therapies for advanced malignant melanoma ... BeFree 23463675 Detail
<0.001 Lentigo maligna melanoma Compared to tumors without the mutation, the P131L mutant positive tumors were a... BeFree 25544760 Detail
<0.001 melanoma CAST-PCR gave rapid and accurate results for the common V600E and V600K mutation... BeFree 23584600 Detail
<0.001 melanoma CAST-PCR gave rapid and accurate results for the common V600E and V600K mutation... BeFree 23584600 Detail
0.049 Metastatic melanoma A combination of dabrafenib and trametinib, as compared with dabrafenib alone, i... BeFree 25265492 Detail
0.049 Metastatic melanoma Dabrafenib in patients with Val600Glu or Val600Lys BRAF-mutant melanoma metastat... BeFree 23051966 Detail
0.431 melanoma CAST-PCR gave rapid and accurate results for the common V600E and V600K mutation... BeFree 23584600 Detail
0.236 melanoma Mutation in BRAF and NRAS was present in 43% (88% V600E, 10% V600K) and 30% (48%... BeFree 23855428 Detail
0.431 melanoma In this study, sensitive and quantitative BRAF V600E and V600K mutation-specific... BeFree 23499336 Detail
0.431 melanoma The DDFI was significantly shorter in patients with BRAF(V600K/R) versus BRAF(V6... BeFree 24918823 Detail
0.431 melanoma The U.S. Food and Drug Administration approved the use of trametinib and dabrafe... BeFree 24596183 Detail
Annotation

Annotations

DescrptionSourceLinks
In melanoma, V600K mutations in comparison to other BRAF mutations were associated with more frequen... DisGeNET Detail
In a patient with a BRAF(V600K)-mutant melanoma responding to vemurafenib, we observed accelerated p... DisGeNET Detail
The strong gain-of-function mutation, V600R, of BRAF found in melanomas and other cancers was identi... DisGeNET Detail
We have treated 45 patients with V600 mutated melanoma including patients with V600R mutation betwee... DisGeNET Detail
BRAF inhibitor activity in V600R metastatic melanoma. DisGeNET Detail
Here we report the discovery of a novel BRAF mutation that confers resistance to PLX4032 employing w... DisGeNET Detail
In melanoma, V600K mutations in comparison to other BRAF mutations were associated with more frequen... DisGeNET Detail
Studies presented or published during the European Society for Medical Oncology conference demonstra... DisGeNET Detail
Trametinib, as compared with chemotherapy, improved rates of progression-free and overall survival a... DisGeNET Detail
In total, we found 21 (70%) out of 30 melanoma cell lines with BRAF mutations in exon 15: two of whi... DisGeNET Detail
In this phase 3 trial, we randomly assigned 423 previously untreated patients who had unresectable s... DisGeNET Detail
Since patients diagnosed with BRAF V600E and V600K mutated advanced melanoma show response to treatm... DisGeNET Detail
We enrolled previously untreated patients with BRAF Val600Glu or Val600Lys mutation-positive unresec... DisGeNET Detail
CAST-PCR gave rapid and accurate results for the common V600E and V600K mutations, however additiona... DisGeNET Detail
Next, of the 15 archived melanoma FNAs tested, BRAF mutations were observed in 8 (53%); 5 and 3 mela... DisGeNET Detail
Dabrafenib plus trametinib, as compared with vemurafenib monotherapy, significantly improved overall... DisGeNET Detail
Distinguishing clinicopathologic features of patients with V600E and V600K BRAF-mutant metastatic me... DisGeNET Detail
We enrolled previously untreated patients with BRAF Val600Glu or Val600Lys mutation-positive unresec... DisGeNET Detail
To determine whether specific mutations are clinically important to differentiate, tumor characteris... DisGeNET Detail
Studies presented or published during the European Society for Medical Oncology conference demonstra... DisGeNET Detail
Safety and efficacy of vemurafenib in BRAF(V600E) and BRAF(V600K) mutation-positive melanoma (BRIM-3... DisGeNET Detail
Among the 20 melanomas with completed BRAF-sequencing analysis, 6 (30%) harbored a mutation, of whic... DisGeNET Detail
The somatic affairs of BRAF: tailored therapies for advanced malignant melanoma and orphan non-V600E... DisGeNET Detail
Compared to tumors without the mutation, the P131L mutant positive tumors were associated with incre... DisGeNET Detail
CAST-PCR gave rapid and accurate results for the common V600E and V600K mutations, however additiona... DisGeNET Detail
CAST-PCR gave rapid and accurate results for the common V600E and V600K mutations, however additiona... DisGeNET Detail
A combination of dabrafenib and trametinib, as compared with dabrafenib alone, improved the rate of ... DisGeNET Detail
Dabrafenib in patients with Val600Glu or Val600Lys BRAF-mutant melanoma metastatic to the brain (BRE... DisGeNET Detail
CAST-PCR gave rapid and accurate results for the common V600E and V600K mutations, however additiona... DisGeNET Detail
Mutation in BRAF and NRAS was present in 43% (88% V600E, 10% V600K) and 30% (48% Q61K, 40% Q61R) of ... DisGeNET Detail
In this study, sensitive and quantitative BRAF V600E and V600K mutation-specific real-time quantitat... DisGeNET Detail
The DDFI was significantly shorter in patients with BRAF(V600K/R) versus BRAF(V600E) melanoma in uni... DisGeNET Detail
The U.S. Food and Drug Administration approved the use of trametinib and dabrafenib in combination f... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs121913227 dbSNP
Genome
hg19
Position
chr7:140,453,136-140,453,137
Variant Type
snv
Reference Allele
AC
Alternative Allele
CG
Genome browser