Annotation Detail

Information
Associated Genes
NRAS
Associated Variants
NRAS p.Gln61Leu (p.Q61L) ( ENST00000369535.5 )
NRAS p.Gln61Arg (p.Q61R) ( ENST00000369535.5 )
NRAS p.Gln61Pro (p.Q61P) ( ENST00000369535.5 )
BRAF p.Val640Gly (p.V640G) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Ala (p.V640A) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Glu (p.V640E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
NRAS p.Gln61Leu (p.Q61L) ( ENST00000369535.5 )
NRAS p.Gln61Arg (p.Q61R) ( ENST00000369535.5 )
NRAS p.Gln61Pro (p.Q61P) ( ENST00000369535.5 )
BRAF p.Val640Gly (p.V640G) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Ala (p.V640A) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Glu (p.V640E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
Associated Disease
Invasive Skin Melanoma
Source Database
DisGeNET
Description
Somatic BRAF(V600E) and NRAS(Q61R) mutations of 127 primary invasive melanomas from the NHS cohort were determined by pyrosequencing using formalin-fixed, paraffin-embedded block tissues.
Pubmed
25048604
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2014
Drugs