DIPK1C
Chr 18divergent protein kinase domain 1C
Also known as: C18orf51, FAM69C, FNCAD
The protein is a cysteine-rich transmembrane protein that localizes to the endoplasmic reticulum, though its specific function remains unknown. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly. This gene is not highly constrained against loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
276 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 145 | 0 | 145 |
Likely Pathogenic | 0 | 0 | 6 | 0 | 6 |
VUS | 0 | 91 | 20 | 0 | 111 |
Likely Benign | 0 | 9 | 2 | 1 | 12 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 100 | 173 | 1 | 274 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DIPK1C · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools