rs284878

This variant is located in the TGFBR3 gene.

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ClinVar annotation

Benign
1 submitter

TGFBR3-related disorder

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Research that mentions this SNP (1)

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Polymorphisms in the potential functional regions of the TGF‐β 1 and TGF‐β receptor genes and disease susceptibility in HBV‐related hepatocellular carcinoma patients
AssociationN=1,228Zhenhui Xin et al.(2012)· Molecular Carcinogenesis

Case-control study examining 16 SNPs in four genes of the TGFβ signaling pathway (TGFB1, TGFBR1, TGFBR2, TGFBR3) and their association with HBV-related hepatocellular carcinoma in 347 Chinese HCC patients and 881 controls. rs1805110 T allele showed significant association with HCC (OR=1.21, p=0.034), with stronger effect in males (OR=1.33, p=0.005). Haplotype analysis identified protective (C-C-A-C-G, OR=0.72) and risk (T-C-A-C-G, OR=1.35) haplotypes in TGFBR3.

Traits studied:HBV-related hepatocellular carcinomaHepatocellular carcinoma (HCC)
PubMedDOIMetascience Observatory

About TGFBR3

This locus encodes the transforming growth factor (TGF)-beta type III receptor. The encoded receptor is a membrane proteoglycan that often functions as a co-receptor with other TGF-beta receptor superfamily members. Ectodomain shedding produces soluble TGFBR3, which may inhibit TGFB signaling. Decreased expression of this receptor has been observed in various cancers. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.[provided by RefSeq, Sep 2010]

View all TGFBR3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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