KEGG   VARIANT: 4087v1
Entry
4087v1                      Variant                                
Name
SMAD2 mutation
Gene
SMAD2  SMAD family member 2 [KO:K04500]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation D450E
COSM: 6023536
Variation
mutation P445H
COSM: 6053940
Variation
mutation L440R
COSM: 6053941
Variation
mutation R133C
COSM: 3378505
Network
nt06218  TGFB signaling
nt06260  Colorectal cancer
  Element
N00065  Mutation-inactivated SMAD2 to TGF-beta signaling pathway
Disease
H00020  Colorectal cancer
Reference
PMID:8752209
  Authors
Eppert K, Scherer SW, Ozcelik H, Pirone R, Hoodless P, Kim H, Tsui LC, Bapat B, Gallinger S, Andrulis IL, Thomsen GH, Wrana JL, Attisano L
  Title
MADR2 maps to 18q21 and encodes a TGFbeta-regulated MAD-related protein that is functionally mutated in colorectal carcinoma.
  Journal
Cell 86:543-52 (1996)
DOI:10.1016/S0092-8674(00)80128-2
Reference
  Authors
Fleming NI, Jorissen RN, Mouradov D, Christie M, Sakthianandeswaren A, Palmieri M, Day F, Li S, Tsui C, Lipton L, Desai J, Jones IT, McLaughlin S, Ward RL, Hawkins NJ, Ruszkiewicz AR, Moore J, Zhu HJ, Mariadason JM, Burgess AW, Busam D, Zhao Q, Strausberg RL, Gibbs P, Sieber OM
  Title
SMAD2, SMAD3 and SMAD4 mutations in colorectal cancer.
  Journal
Cancer Res 73:725-35 (2013)
DOI:10.1158/0008-5472.CAN-12-2706
Reference
  Authors
Roman C, Saha D, Beauchamp R.
  Title
TGF-beta and colorectal carcinogenesis.
  Journal
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