rs1183357372
This variant is located in the CAMTA1 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout CAMTA1
The protein encoded by this gene contains a CG1 DNA-binding domain, a transcription factor immunoglobulin domain, ankyrin repeats, and calmodulin-binding IQ motifs. The encoded protein is thought to be a transcription factor and may be a tumor suppressor. However, a translocation event is sometimes observed between this gene and the WWTR1 gene, with the resulting WWTR1-CAMTA1 oncoprotein leading to epithelioid hemangioendothelioma, a malignant vascular cancer. [provided by RefSeq, Mar 2017]
View all CAMTA1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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