rs753489572
This is a variant in the ENTPD5 gene that changes a asparagine to an serine.
▶ClinVar annotation
Pathogenic★☆☆☆
2 submitters1 publicationAbout ENTPD5
The protein encoded by this gene is similar to E-type nucleotidases (NTPases)/ecto-ATPase/apyrases. NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD5 contains 4 apyrase-conserved regions which is characteristic of NTPases. [provided by RefSeq, Jan 2009]
View all ENTPD5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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