rs2235632
This is a splice region variant variant in the BAIAP3 gene.
▶Research that mentions this SNP (1)
▶Identification of candidate genes carrying polymorphisms associated with the risk of colorectal cancer by analyzing the colorectal mutome and microRNAomeFunctionalN=23Debora Landi et al.(2012)· Cancer
Bioinformatics analysis of exome sequencing data from 23 colorectal cancer patients treated with Cetuximab to identify candidate genes explaining differential skin rash response. Using a novel Molecular Systems Map approach, the study identified 12 candidate genes (C3, CCNK, CD86, CDH11, COL4A4, GRIP2, NUP210, P3H3, STUB1, TLR5, KISS1, ERMAP) with variants potentially affecting EGFR signaling, immune response, and cell adhesion pathways.
About BAIAP3
This p53-target gene encodes a brain-specific angiogenesis inhibitor. The protein is a seven-span transmembrane protein and a member of the secretin receptor family. It interacts with the cytoplasmic region of brain-specific angiogenesis inhibitor 1. This protein also contains two C2 domains, which are often found in proteins involved in signal transduction or membrane trafficking. Its expression pattern and similarity to other proteins suggest that it may be involved in synaptic functions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
View all BAIAP3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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