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Variants
3 recordsVariant
BRAF V600E and MAPK signaling
A recurrent BRAF variant that can drive MAPK-pathway signaling and create a context-dependent drug target.
BASE record
Variant
HbS β6 Glu→Val Variant
The HBB missense variant that produces sickle hemoglobin: glutamate is replaced by valine at mature beta-globin residue 6 (often described as p.Glu7Val using precursor numbering).
BASE record
Variant
KRAS G12C
A KRAS variant that replaces glycine at position 12 with cysteine and creates a chemically addressable feature in the protein.
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