TXLNB

Chr 6

taxilin beta

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

NCBI Gene: 167838ENSG00000164440UniProt: Q8N3L3

Predicted to enable syntaxin binding activity. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
13
Pathogenic / LP
153
ClinVar variants
3
Pubs (1 yr)
-0.6
Missense Z
1.11
LOEUF
Clinical Summary— TXLNB
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
13 Pathogenic / Likely Pathogenic· 133 VUS of 153 total submissions

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 OE0.77 (0.54–1.11)
0≤0.351.4
Missense OE1.09 (1.01–1.19)
0≤0.61.4
Synonymous OE0.90
0≤1.21.6
LoF obs/exp: 21 / 27.3Missense obs/exp: 407 / 372.3Syn Z: 0.94

ClinVar Variant Classifications

153 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic13
VUS133
Likely Benign7
13
Pathogenic
133
VUS
7
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
13
0
13
Likely Pathogenic
0
0
0
0
0
VUS
0
131
2
0
133
Likely Benign
0
7
0
0
7
Benign
0
0
0
0
0
Total0138150153

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

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 →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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