AKAP19

Chr 2

A-kinase anchoring protein 19

Also known as: C2orf88, smAKAP

NCBI Gene: 84281 ENSG00000187699 UniProt: Q9BSF0 OMIM: 615117

Predicted to enable protein kinase A regulatory subunit binding activity. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

Predicted to enable protein kinase A regulatory subunit binding activity. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Clinical Summary— AKAP19

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ClinVar Variants

1 unique Pathogenic / Likely Pathogenic· 11 VUS of 19 total submissions

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Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

19 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic1

VUS11

Likely Benign3

Benign1

Conflicting1

Pathogenic

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	1	0	1
Likely Pathogenic	0	0	0	0	0
VUS	0	11	0	0	11
Likely Benign	0	1	1	1	3
Benign	0	1	0	0	1
Conflicting	—				1
Total	0	13	2	1	17

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

View in ClinVar →

13 pathogenic / likely-pathogenic (of 13) ClinVar copy-number / structural variants overlap AKAP19 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →