Variant: rs1057519739 

    present in Gene: SMAD4
    present in Chromosome: 18
    Position on Chromosome: 51065518
    Alleles of this Variant: G/A;C

rs1057519739 in SMAD4 gene and Colorectal Neoplasms PMID 8898652 1996 Somatic alterations of the DPC4 gene in human colorectal cancers in vivo.

PMID 17994767 2007 Novel mutations in Smad proteins that inhibit signaling by the transforming growth factor beta in mammalian cells.

PMID 12821112 2003 Role of Smad4 (DPC4) inactivation in human cancer.

PMID 9679244 1998 TGF-beta signaling and cancer: structural and functional consequences of mutations in Smads.

PMID 14715079 2004 Molecular and functional consequences of Smad4 C-terminal missense mutations in colorectal tumour cells.

PMID 10775259 2000 Transcriptional control by the TGF-beta/Smad signaling system.

PMID 10479724 1999 Inactivation of both alleles of the DPC4/SMAD4 gene in advanced colorectal cancers: identification of seven novel somatic mutations in tumors from Japanese patients.