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RPS6KC1

Synonyms
RPK118, RSKL1, S6K-delta-1, S6PKh1, humS6PKh1
External resources
Summary
Sphingosine kinase catalyzes the formation of sphingosine 1 phosphate, a lipid cellular messenger. The protein encoded by this gene can bind to sphingosine kinase and to phosphatidylinositol 3-phosphate, suggesting a role in sphingosine 1 phophate signaling. The encoded protein can also bind to peroxiredoxin-3 and may help transport it to mitochondria.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
2,284
Likely benign
2,169
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on RPS6KC1 gene.

Phenotype class
Patients in 3billion (%)

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