LANCL3

Chr X

LanC like family member 3

The LANCL3 protein is predicted to be involved in carbohydrate metabolism and peptide modification at the plasma membrane. Clinical significance of mutations in this gene has not been established, as no specific disease associations have been reported. The gene shows tolerance to loss-of-function variants with low constraint scores.

ResearchSummary from RefSeq
GOFmechanismLOEUF 0.84
Clinical SummaryLANCL3
Population Constraint (gnomAD)
Low constraint (pLI 0.04) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
0.84LOEUF
pLI 0.043
Z-score 1.94
OE 0.37 (0.180.84)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.14Z-score
OE missense 0.97 (0.841.11)
143 obs / 147.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.37 (0.180.84)
00.351.4
Missense OE0.97 (0.841.11)
00.61.4
Synonymous OE1.26
01.21.6
LoF obs/exp: 4 / 10.9Missense obs/exp: 143 / 147.9Syn Z: -1.67
DN
0.5771th %ile
GOF
0.6931th %ile
LOF
0.2871th %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

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

LANCL3 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found