Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Ala883Phe (p.A883F)
(
ENST00000713926.1,
ENST00000340058.6,
ENST00000615310.5,
ENST00000355710.8 )
RET p.Ala883Phe (p.A883F) ( ENST00000355710.8, ENST00000615310.5, ENST00000340058.6, ENST00000713926.1 )
RET p.Ala883Phe (p.A883F) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Ala883Phe (p.A883F) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Val804Met (p.V804M) ( ENST00000713926.1, ENST00000340058.6, ENST00000355710.8, ENST00000615310.5 )
RET p.Val804Leu (p.V804L) ( ENST00000340058.6, ENST00000713926.1, ENST00000355710.8, ENST00000615310.5 )
RET p.Val804Leu (p.V804L) ( ENST00000355710.8, ENST00000713926.1, ENST00000615310.5, ENST00000340058.6 )
RET p.Tyr806Cys (p.Y806C) ( ENST00000355710.8, ENST00000340058.6, ENST00000713926.1, ENST00000615310.5 )
RET p.Met918Thr (p.M918T) ( ENST00000340058.6, ENST00000713926.1, ENST00000355710.8, ENST00000615310.5 )
RET p.Val804Met (p.V804M) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Val804Leu (p.V804L) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Val804Leu (p.V804L) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Tyr806Cys (p.Y806C) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Met918Thr (p.M918T) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- multiple endocrine neoplasia type 2A
- Source Database
- DisGeNET
- Description
- Like RET with the M918T or A883F MEN 2B mutation, the transforming activity of RET with the V804M/Y806C mutation was not affected by substitution of phenylalanine for tyrosine 905 that abolished the activity of RET with the MEN 2A mutation.
- Pubmed
- 10679286
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.613995490717024
- Year of publication
- 2000
Drugs