AARD

protein-coding

alanine and arginine rich domain containing protein

Gene summary

Predicted to act upstream of or within response to testosterone. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C8orf85

MANE transcript

NM_001025357.3

Inheritance

—

ClinVar variants

U:22B:3

Top phenotype

EBV-positive nodal T- and NK-cell lymphoma

gnomAD constraint

pLI —, LoF o/e 0.23

Max pathogenic AF

—

Genomic locus

chr8:116,938,207-116,944,487

External References & Databases

Ensembl (ENSG00000205002)

Transcript & Mutation Effects

hg38 • Region Span ~6.3 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 AARD variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 24

EBV-positive nodal T- and NK-cell lymphomaTotal: 1

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001025357.3. 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					1 clinvar	1
missense			22 clinvar	2 clinvar		24
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	22	2	1	25

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 5 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001025357.3	RefSeq	NP_001020528.1	2	MANE Select
ENST00000378279.4	Ensembl	ENSP00000367528.3	2	MANE Select
ENST00001093716.1	Ensembl	ENSP00000763522.1	2	Standard
ENST00001130328.1	Ensembl	ENSP00000800133.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

lung development

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000378279
Coding exons: 2
Length: 6289
Individuals with no LoFs: 125663
Homozygous LoFs: 0
Heterozygous LoFs: 51
Defined: 125714
p: 0.000203

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.309	90	82.1	1.10	0.00000380	969
Missense (PolyPhen)		23	16.45	1.3982		181
Synonymous	-0.133	39	38.0	1.03	0.00000192	315
Loss of Function	1.46	1	4.26	0.235	1.92e-7	46

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00026	0.00025	rare
Latino/Admixed American	0.00020	0.00020	rare
Ashkenazi Jewish	0.0020	0.0020	notable
East Asian	0.00011	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00012	0.00011	rare
South Asian	0.000033	0.000033	rare
Other	0.00066	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium