rs246221
This is a synonymous variant in the ABCC1 gene — it does not change the protein's amino acid sequence.
▶Research that mentions this SNP (1)
▶Validation of variants inSLC28A3andUGT1A6as genetic markers predictive of anthracycline‐induced cardiotoxicity in childrenReviewVisscher H. et al.(2013)· Pediatric Blood & Cancer
A Russian-language review examining molecular and genetic aspects of cardiotoxicity from anticancer chemotherapy. The paper discusses genetic polymorphisms in ABC transporters (ABCC1, ABCC2, ABCB1), nucleotide transporters (SLC28A3), and genes involved in oxidative stress (CYBA, RAC2, NCF4, CBR3) that predispose patients to chemotherapy-induced cardiotoxicity. Key findings include rs8187710 in ABCC2 (p=0.0009), rs4673 in CYBA (p=0.04), and rs13058338 in RAC2 (p=0.02) significantly increasing cardiotoxicity risk, while rs1045642 in ABCB1 and rs7853758 in SLC28A3 show cardioprotective properties.
About ABCC1
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra-and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a multispecific organic anion transporter, with oxidized glutatione, cysteinyl leukotrienes, and activated aflatoxin B1 as substrates. This protein also transports glucuronides and sulfate conjugates of steroid hormones and bile salts. Alternatively spliced variants of this gene have been described but their full-length nature is unknown. [provided by RefSeq, Apr 2012]
View all ABCC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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