rs372325047
This variant is located in the AAGAB gene.
▶ClinVar annotation
Benign★☆☆☆
1 submitter1 publicationAbout AAGAB
The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]
View all AAGAB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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