GASK1A

Chr 3

golgi associated kinase 1A

Also known as: C3orf41, FAM198A

NCBI Gene: 729085ENSG00000144649UniProt: Q9UFP1OMIM: 620413

GASK1A is a protein localized to intracellular membrane-bounded organelles, though its specific function remains poorly characterized. No clear disease associations have been established for mutations in this gene based on the available information. The gene appears highly tolerant to loss-of-function variants, suggesting it may not be essential for normal development or neurological function.

OMIMResearchSummary from RefSeq
LOEUF 1.59
Clinical Summary— GASK1A
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
7 unique Pathogenic / Likely Pathogenic· 89 VUS of 113 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.59LOEUF
pLI 0.000
Z-score -0.49
OE 1.12 (0.80–1.59)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
2.00Z-score
OE missense 0.69 (0.62–0.77)
234 obs / 337.5 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE1.12 (0.80–1.59)
0≤0.351.4
Missense OE0.69 (0.62–0.77)
0≤0.61.4
Synonymous OE0.85
0≤1.21.6
LoF obs/exp: 22 / 19.6Missense obs/exp: 234 / 337.5Syn Z: 1.43

ClinVar Variant Classifications

113 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic6
Likely Pathogenic1
VUS89
Likely Benign7
Benign1
6
Pathogenic
1
Likely Pathogenic
89
VUS
7
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
6
0
6
Likely Pathogenic
0
0
1
0
1
VUS
0
87
2
0
89
Likely Benign
0
7
0
0
7
Benign
0
1
0
0
1
Total09590104

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

View in ClinVar →

Protein Context — Lollipop Plot

GASK1A · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Identification of Ultrasound-Sensitive Prognostic Markers of LAML and Construction of Prognostic Risk Model Based on WGCNA
Tian C et al.·J Oncol
2023Functional
Genome-Wide SNP Analysis for Milk Performance Traits in Indigenous Sheep: A Case Study in the Egyptian Barki Sheep
Abousoliman I et al.·Animals (Basel)
2021
Understanding the interplay of Caesarean delivery and genetic influences on intelligence and anxiety traits in offspring findings from genome-wide association studies
Fallahpour B et al.·Eur J Obstet Gynecol Reprod Biol X
2025
COL11A1 is associated with developmental dysplasia of the hip and secondary osteoarthritis in the HUNT study
Jacobsen KK et al.·Osteoarthr Cartil Open
2023
Identification of Hub Genes and Immune Infiltration in Non-alcoholic Fatty Liver Disease -Related Hepatocellular Carcinoma by Bioinformatics Analysis
Liu X et al.·Turk J Gastroenterol
2023
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 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