RECQL4
Chr 8ARRecQ like helicase 4
Also known as: RECQ4
The RECQL4 protein is an ATP-dependent DNA helicase that unwinds double-stranded DNA and may modulate chromosome segregation. Mutations cause autosomal recessive disorders including Rothmund-Thomson syndrome type 2, RAPADILINO syndrome, and Baller-Gerold syndrome, which are rare multisystem conditions affecting growth, skeletal development, and often associated with increased cancer risk. The gene is not highly constrained against loss-of-function variants (pLI near zero), consistent with its recessive inheritance pattern.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
400 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 | 23 | 0 | 6 | 0 | 29 |
Likely Pathogenic | 5 | 1 | 1 | 0 | 7 |
VUS | 4 | 207 | 18 | 2 | 231 |
Likely Benign | 0 | 9 | 25 | 92 | 126 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 7 | |||
| Total | 32 | 217 | 50 | 94 | 400 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RECQL4 · 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 →External Resources
Links to major genomics databases and tools