HSFX2

Chr X

heat shock transcription factor family, X-linked 2

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

127
ClinVar variants
102
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryHSFX2
📋
ClinVar Variants
102 Pathogenic / Likely Pathogenic· 15 VUS of 127 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

127 submitted variants in ClinVar

Classification Summary

Pathogenic99
Likely Pathogenic3
VUS15
Likely Benign10
99
Pathogenic
3
Likely Pathogenic
15
VUS
10
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
99
Likely Pathogenic
3
VUS
15
Likely Benign
10
Benign
0
Total127

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

HSFX2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

No OMIM entries found.