TXLNB

Chr 6

taxilin beta

Also known as: C6orf198, LST001, MDP77, dJ522B19.2

NCBI Gene: 167838ENSG00000164440UniProt: Q8N3L3

Located in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.11
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.11LOEUF
pLI 0.000
Z-score 1.12
OE 0.77 (0.54–1.11)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.64Z-score
OE missense 1.09 (1.01–1.19)
407 obs / 372.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.77 (0.54–1.11)
0≤0.351.4
Missense OE?1.09 (1.01–1.19)
0≤0.61.4
Synonymous OE?0.90
0≤1.21.6
LoF obs/exp: 21 / 27.3Missense obs/exp: 407 / 372.3Syn Z: 0.94

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TXLNB · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients