SUPT20HL2
Chr XSUPT20H like 2
Also known as: FAM48B1, FAM48B2
SUPT20HL2 encodes a protein predicted to function as a transcription coregulator involved in RNA polymerase II-mediated transcription regulation. Currently, no established human diseases have been definitively linked to mutations in this gene. The clinical significance and inheritance pattern of SUPT20HL2 variants remain to be determined.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
100 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 86 |
Likely Pathogenic | — | — | — | — | 1 |
VUS | — | — | — | — | 10 |
Likely Benign | — | — | — | — | 3 |
Benign | — | — | — | — | 0 |
| Total | — | 100 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SUPT20HL2 · 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