GASK1A

protein-coding

golgi associated kinase 1A, the group of Golgi associated kinase family

Gene summary

Predicted to be located in endoplasmic reticulum and extracellular region. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C3orf41
FAM198A

MANE transcript

NM_001129908.3

Inheritance

—

ClinVar variants

U:91B:8

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.12

Max pathogenic AF

—

Genomic locus

chr3:42,979,087-43,067,898

External References & Databases

Ensembl (ENSG00000144649)

Transcript & Mutation Effects

hg38 • Region Span ~88.8 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to GASK1A variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 94

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001129908.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar			2
missense			88 clinvar	7 clinvar	1 clinvar	96
nonsense						0
start loss			1 clinvar			1
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	91	7	1	99

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 18 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001129908.3	RefSeq	NP_001123380.2	5	MANE Select
ENST00000430121.3	Ensembl	ENSP00000407301.2	5	MANE Select
ENST00000273146.6	Ensembl	ENSP00000273146.2	5	Standard
ENST00000488863.5	Ensembl	ENSP00000439905.1	4	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000430121
Coding exons: 5
Length: 80945
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.00	234	337	0.693	0.0000197	3690
Missense (PolyPhen)		83	109.85	0.75558		1254
Synonymous	1.43	122	144	0.849	0.00000859	1238
Loss of Function	-0.494	22	19.6	1.12	0.00000101	211

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 1.64
RVIS percentile EVS: 96.11

Essentials

Essential (gene trap): N