CCSER1

Chr 4

coiled-coil serine rich protein 1

Also known as: FAM190A

NCBI Gene: 401145 ENSG00000184305 UniProt: Q9C0I3 OMIM: 618934

The CCSER1 protein function remains poorly characterized, with limited clinical data available beyond an association with cocaine dependence. This gene is not well-constrained against loss-of-function variants (pLI = 0.0008, LOEUF = 0.55), and no established pediatric neurogenetic disorders have been definitively linked to CCSER1 mutations in the medical literature.

OMIM ResearchSummary from RefSeq

Predicted to act upstream of or within several processes, including osteoclast differentiation; protein activation cascade; and protein stabilization. Implicated in alcohol dependence and cocaine dependence. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.55

LOEUF

Mechanism· predicted