DIPK1B
Chr 9divergent protein kinase domain 1B
Also known as: C9orf136, FAM69B, pp6977
This gene encodes a cysteine-rich transmembrane protein that localizes to the endoplasmic reticulum, though its specific cellular function remains unknown. Mutations cause autosomal recessive intellectual disability with seizures and brain malformations. The gene shows tolerance to loss-of-function variants in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
205 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 | 68 | 0 | 68 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 110 | 8 | 0 | 118 |
Likely Benign | 0 | 4 | 0 | 0 | 4 |
Benign | 0 | 0 | 1 | 0 | 1 |
Conflicting | — | 2 | |||
| Total | 0 | 114 | 80 | 0 | 196 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DIPK1B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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