Annotation Detail

Information
Associated Genes
SNRPE
Associated Variants
NRAS p.Gln61Leu (p.Q61L) ( ENST00000369535.5 )
NRAS p.Gln61Arg (p.Q61R) ( ENST00000369535.5 )
NRAS p.Gln61Pro (p.Q61P) ( ENST00000369535.5 )
NRAS p.Gln61Glu (p.Q61E) ( ENST00000369535.5 )
NRAS p.Gln61Lys (p.Q61K) ( ENST00000369535.5 )
NRAS p.Gln61Leu (p.Q61L) ( ENST00000369535.5 )
NRAS p.Gln61Arg (p.Q61R) ( ENST00000369535.5 )
NRAS p.Gln61Pro (p.Q61P) ( ENST00000369535.5 )
NRAS p.Gln61Glu (p.Q61E) ( ENST00000369535.5 )
NRAS p.Gln61Lys (p.Q61K) ( ENST00000369535.5 )
Associated Disease
Neoplasm Metastasis
Source Database
DisGeNET
Description
Sixty-eight samples (20 of 36 primaries, 18 of 27 regional metastases, 16 of 40 nodal metastases, and 9 of 12 distant metastases) harbored the V599E B-RAF mutation (59%), 17 contained a Q61R N-RAS mutation, and 4 contained a Q61K N-RAS mutation.
Pubmed
15737846
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00244297684872273
Year of publication
2005
Drugs