Annotation Detail

Information
Associated Genes
TSPYL2
Associated Variants
KRAS p.Gln61Glu (p.Q61E) ( ENST00000557334.6, ENST00000256078.10, ENST00000688940.1, ENST00000311936.8, ENST00000692768.1, ENST00000685328.1, ENST00000693229.1 )
KRAS p.Gln61Lys (p.Q61K) ( ENST00000311936.8, ENST00000693229.1, ENST00000692768.1, ENST00000557334.6, ENST00000688940.1, ENST00000256078.10, ENST00000685328.1 )
KRAS p.Gly13Val (p.G13V) ( ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000686969.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 )
KRAS p.Gly13Ala (p.G13A) ( ENST00000557334.6, ENST00000256078.10, ENST00000688940.1, ENST00000311936.8, ENST00000686969.1, ENST00000685328.1, ENST00000693229.1, ENST00000692768.1, ENST00000556131.2 )
KRAS p.Gly13Asp (p.G13D) ( ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000685328.1, ENST00000557334.6, ENST00000686969.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 )
NRAS p.Gln61Glu (p.Q61E) ( ENST00000369535.5 )
NRAS p.Gln61Lys (p.Q61K) ( ENST00000369535.5 )
NRAS p.Gly13Val (p.G13V) ( ENST00000369535.5 )
NRAS p.Gly13Ala (p.G13A) ( ENST00000369535.5 )
NRAS p.Gly13Asp (p.G13D) ( ENST00000369535.5 )
KRAS p.Gln61Glu (p.Q61E) ( ENST00000256078.10, ENST00000311936.8, ENST00000557334.6, ENST00000685328.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 )
KRAS p.Gln61Lys (p.Q61K) ( ENST00000693229.1, ENST00000688940.1, ENST00000692768.1, ENST00000256078.10, ENST00000311936.8, ENST00000557334.6, ENST00000685328.1 )
KRAS p.Gly13Val (p.G13V) ( ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000686969.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1, ENST00000557334.6, ENST00000685328.1 )
KRAS p.Gly13Ala (p.G13A) ( ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000686969.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 )
KRAS p.Gly13Asp (p.G13D) ( ENST00000556131.2, ENST00000557334.6, ENST00000256078.10, ENST00000311936.8, ENST00000685328.1, ENST00000686969.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 )
NRAS p.Gln61Glu (p.Q61E) ( ENST00000369535.5 )
NRAS p.Gln61Lys (p.Q61K) ( ENST00000369535.5 )
NRAS p.Gly13Val (p.G13V) ( ENST00000369535.5 )
NRAS p.Gly13Ala (p.G13A) ( ENST00000369535.5 )
NRAS p.Gly13Asp (p.G13D) ( ENST00000369535.5 )
Associated Disease
Sezary syndrome
Source Database
DisGeNET
Description
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome and one CD30(+) CTCL harbored a NRAS(Q61K) amino acid change.
Pubmed
21209378
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00081432561624091
Year of publication
2011
Drugs