GOLPH3L

Chr 1

golgi phosphoprotein 3 like

Also known as: GPP34R

NCBI Gene: 55204ENSG00000143457UniProt: Q9H4A5

The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is localized at the Golgi stack and may have a regulatory role in Golgi trafficking. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.06
LOEUF
DN
Mechanism· predicted
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?
1.06LOEUF
pLI 0.000
Z-score 1.38
OE 0.63 (0.39–1.06)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.94Z-score
OE missense 0.79 (0.69–0.92)
128 obs / 161.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.63 (0.39–1.06)
0≤0.351.4
Missense OE?0.79 (0.69–0.92)
0≤0.61.4
Synonymous OE?0.90
0≤1.21.6
LoF obs/exp: 10 / 15.9Missense obs/exp: 128 / 161.7Syn Z: 0.57

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GOLPH3L · 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