Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Cys634Ser (p.C634S)
(
ENST00000340058.6,
ENST00000713926.1,
ENST00000355710.8,
ENST00000615310.5 )
RET p.Cys634Arg (p.C634R) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys634Gly (p.C634G) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys634Ser (p.C634S) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys634Arg (p.C634R) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys634Gly (p.C634G) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- Papillary thyroid carcinoma
- Source Database
- DisGeNET
- Description
- Genetic analysis of both tumour components showed a distinctive mutational pattern: in the MTC a Cys634Arg substitution in exon 11 of the RET gene and in the two PTC foci a Val600Glu substitution in exon 15 of the BRAF gene.
- Pubmed
- 15947103
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.179022438373265
- Year of publication
- 2005
Drugs