rs372500658
This variant is located in the CARMIL2 gene.
▶ClinVar annotation
Likely Benign★★★☆
3 submitters2 publicationsAbout CARMIL2
This gene encodes a member of the CARMIL (capping protein, Arp2/3, myosin-I linker) family of proteins. The encoded protein interacts with and negatively regulates the heterodimeric capping protein and promotes cell migration. Reduced expression of this gene has been observed in human psoriasis patients. Mutations in this gene cause a human immunodeficiency syndrome characterized by smooth muscle tumors and impaired T-cell function. [provided by RefSeq, May 2017]
View all CARMIL2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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