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BRAF c.1789_1791delinsGAC ;(p.L597D)
Variant ID: 7-140453144-TAG-GTC
NM_004333.4(
BRAF
):c.1789_1791delinsGAC;(p.L597D)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Severe thromboembolic phenomenon in the setting of pseudoprogression of melanoma brain metastases in response to combination immunotherapy.
Bmj Case Reports
Perez, Matthew C MC; Yu, Hsiang-Hsuan M HM; Markowitz, Joseph J
Publication Date: 2018-08-14
Variant appearance in text: BRAF: L597D
PubMed Link:
30108120
Variant Present in the following documents:
Main text
View BVdb publication page
The yin-yang of kinase activation and unfolding explains the peculiarity of Val600 in the activation segment of BRAF.
Elife
Kiel, Christina C; Benisty, Hannah H; Lloréns-Rico, Veronica V; Serrano, Luis L
Publication Date: 2016-01-08
Variant appearance in text: BRAF: L597D
PubMed Link:
26744778
Variant Present in the following documents:
elife-12814-supp1.xlsx, sheet 1
View BVdb publication page