TUBA3FP

Chr 22

LRRC74B N-terminal like

Also known as: TUBA3FP

Based on the gene name TUBA3FP, this appears to be a tubulin alpha 3 family pseudogene. Pseudogenes are non-functional gene copies that do not encode proteins and are not associated with human disease. No clinical phenotypes or inheritance patterns are established for this pseudogene.

Research

ResearchGenerating clinical summary…

GOFmechanism

Clinical Summary— TUBA3FP

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ClinVar Variants

2 total variants — no pathogenic classifications of 2 total submissions

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

This gene — mechanism propensity

0.5576th %ile

GOF

0.6638th %ile

LOF

0.4233th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

2 submitted variants in ClinVar

ClinVar

Classification Summary

Curated Variants Distribution

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

Classification	LoF	Missense + Inframe	Non-coding	Synonymous
Pathogenic	—	—	—	—
Likely Pathogenic	—	—	—	—
VUS	—	—	—	—
Likely Benign	—	—	—	—
Benign	—	—	—	—
Total	—

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

167 pathogenic / likely-pathogenic (of 195) ClinVar copy-number / structural variants overlap TUBA3FP — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →