PALM3

Chr 19

paralemmin 3

NCBI Gene: 342979ENSG00000187867UniProt: A6NDB9

Predicted to enable ATP binding activity. Involved in Toll signaling pathway; negative regulation of cytokine-mediated signaling pathway; and response to lipopolysaccharide. Predicted to be located in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

Research Assistant →
0
Active trials
2
Pubs (1 yr)
12
P/LP submissions
0%
P/LP missense
0.62
LOEUF
—
Mechanism
Clinical Summary— PALM3
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.20) despite low pLI — interpret in context.
📋
ClinVar Variants
12 unique Pathogenic / Likely Pathogenic· 109 VUS of 133 total submissions
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.62LOEUF
pLI 0.484
Z-score 2.38
OE 0.20 (0.08–0.62)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.32Z-score
OE missense 0.80 (0.72–0.88)
270 obs / 338.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.20 (0.08–0.62)
0≤0.351.4
Missense OE0.80 (0.72–0.88)
0≤0.61.4
Synonymous OE0.78
0≤1.21.6
LoF obs/exp: 2 / 10.2Missense obs/exp: 270 / 338.1Syn Z: 2.11

ClinVar Variant Classifications

133 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic11
Likely Pathogenic1
VUS109
Likely Benign8
Benign2
11
Pathogenic
1
Likely Pathogenic
109
VUS
8
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
11
0
11
Likely Pathogenic
0
0
1
0
1
VUS
0
106
3
0
109
Likely Benign
0
7
0
1
8
Benign
0
1
0
1
2
Total0114152131

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

View in ClinVar →

Protein Context — Lollipop Plot

PALM3 · 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.

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Clinical Literature
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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 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

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