KEGG   VARIANT: 5979v4
Entry
5979v4                      Variant                                
Name
RET gain-of-function mutation
Type
Gain of function
Gene
RET  ret proto-oncogene [KO:K05126]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 164761
Network
nt06526  MAPK signaling
Disease
H01510  Malignant paraganglioma
H01592  Medullary thyroid cancer
Reference
  Authors
Okafor C, Hogan J, Raygada M, Thomas BJ, Akshintala S, Glod JW, Del Rivero J
  Title
Update on Targeted Therapy in Medullary Thyroid Cancer.
  Journal
Front Endocrinol (Lausanne) 12:708949 (2021)
DOI:10.3389/fendo.2021.708949
Reference
  Authors
Takahashi M
  Title
RET receptor signaling: Function in development, metabolic disease, and cancer.
  Journal
Proc Jpn Acad Ser B Phys Biol Sci 98:112-125 (2022)
DOI:10.2183/pjab.98.008
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