GOLGA8K

Chr 15

golgin A8 family member K

NCBI Gene: 653125ENSG00000249931UniProt: D6RF30

Predicted to be involved in Golgi organization. Predicted to be located in Golgi apparatus. Predicted to be active in Golgi cis cisterna; Golgi cisterna membrane; and cis-Golgi network. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.92
LOEUF
Multiple*
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?
1.92LOEUF
pLI 0.000
Z-score -1.40
OE 1.48 (0.96–1.92)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.87Z-score
OE missense 1.26 (1.08–1.47)
112 obs / 88.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.48 (0.96–1.92)
0≤0.351.4
Missense OE?1.26 (1.08–1.47)
0≤0.61.4
Synonymous OE?1.49
0≤1.21.6
LoF obs/exp: 15 / 10.2Missense obs/exp: 112 / 88.9Syn Z: -2.27

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GOLGA8K · 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