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
Thirty-three samples (7 of 25 primaries, 15 of 25 regional metastases, 5 of 25 nodal metastases, and 6 of 10 distant metastases) harbored the V599E B-RAF mutation (39%), 12 contained a Q61R N-RAS mutation and 5 a Q61K N-RAS mutation.
Pubmed
14695143
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00244297684872273
Year of publication
2003
Drugs