KEGG   VARIANT: 7048v1
Entry
7048v1                      Variant                                
Name
TGFBR2 mutation
Type
Loss of function
Gene
TGFBR2  transforming growth factor beta receptor 2 [KO:K04388]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation R528H
ClinVar: 12511
dbSNP: rs104893815
COSM: 33076
Variation
mutation D522N
ClinVar: 213936
dbSNP: rs863223854
Variation
mutation Y470D
ClinVar: 217016
dbSNP: rs863224935
COSM: 3392339
Network
nt06218  TGFB signaling (cancer)
nt06260  Colorectal cancer
nt06507  TGFB signaling
Disease
H00020  Colorectal cancer
Reference
PMID:9927040
  Authors
Grady WM, Myeroff LL, Swinler SE, Rajput A, Thiagalingam S, Lutterbaugh JD, Neumann A, Brattain MG, Chang J, Kim SJ, Kinzler KW, Vogelstein B, Willson JK, Markowitz S
  Title
Mutational inactivation of transforming growth factor beta receptor type II in microsatellite stable colon cancers.
  Journal
Cancer Res 59:320-4 (1999)
Reference
PMID:10656986
  Authors
Markowitz S
  Title
TGF-beta receptors and DNA repair genes, coupled targets in a pathway of human colon carcinogenesis.
  Journal
Biochim Biophys Acta 1470:M13-20 (2000)
DOI:10.1016/S0304-419X(99)00031-1
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