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AK6

Synonyms
AD-004, CGI-137, CINAP, CIP, hCINAP
External resources
Summary
This gene encodes a protein that belongs to the adenylate kinase family of enzymes. The protein has a nuclear localization and contains Walker A (P-loop) and Walker B motifs and a metal-coordinating residue. The protein may be involved in regulation of Cajal body formation. In human, AK6 and TAF9 (GeneID: 6880) are two distinct genes that share 5' exons. Alternative splicing results in multiple transcript variants.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
73
Likely benign
0
Benign
0

Patient Phenotypes

No patients carry pathogenic or likely pathogenic variants on AK6 gene.

Phenotype class
Patients in 3billion (%)

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