rs2293293
This variant is located in the KY gene.
▶ClinVar annotation
not provided; Myofibrillar myopathy 7; not specified
View on ClinVar →▶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 KY
The protein encoded by this gene belongs to the transglutaminase-like superfamily. The protein is involved in the function, maturation and stabilization of the neuromuscular junction and may be required for normal muscle growth. Mutations in this gene are associated with myopathy, myofibrillar, 7. [provided by RefSeq, Apr 2017]
View all KY variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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