LRRC75A

protein-coding

leucine rich repeat containing 75A

Gene summary

Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to be part of Cul2-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C17orf76
FAM211A

MANE transcript

NM_001113567.3

Inheritance

—

ClinVar variants

U:54B:12

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.12

Max pathogenic AF

—

Genomic locus

chr17:16,441,577-16,492,193

External References & Databases

Ensembl (ENSG00000181350)

Transcript & Mutation Effects

hg38 • Region Span ~50.6 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 LRRC75A variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 62

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001113567.3. 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	9 clinvar		10
missense			53 clinvar	2 clinvar	1 clinvar	56
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	54	11	1	66

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 21 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001113567.3	RefSeq	NP_001107039.1	4	MANE Select
ENST00000470794.2	Ensembl	ENSP00000419502.1	4	MANE Select
NM_207387.4	RefSeq	NP_997270.2	3	Standard
ENST00000409083.7	Ensembl	ENSP00000386504.3	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000470794
Coding exons: 4
Length: 50577
Individuals with no LoFs: 125181
Homozygous LoFs: 0
Heterozygous LoFs: 4
Defined: 125185
p: 0.0000160

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.11	141	183	0.769	0.0000120	2159
Missense (PolyPhen)		79	108.48	0.72827		1131
Synonymous	-0.944	92	81.2	1.13	0.00000513	781
Loss of Function	2.33	1	8.20	0.122	4.36e-7	103

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000018	0.000018	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 0.93
RVIS percentile EVS: 89.66

Essentials

Essential (gene trap): N