LRCOL1

protein-coding

leucine rich colipase like 1

Gene summary

Predicted to enable enzyme activator activity. Predicted to be involved in digestion and lipid catabolic process. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001195520.2

Inheritance

—

ClinVar variants

U:27B:2

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr12:132,603,150-132,610,582

External References & Databases

Ensembl (ENSG00000204583)

NCBI Gene (100507055)

Transcript & Mutation Effects

hg38 • Region Span ~7.4 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 LRCOL1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 28

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001195520.2. 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						0
missense			26 clinvar	2 clinvar		28
nonsense						0
start loss			1 clinvar			1
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	27	2	0	29

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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_001195520.2	RefSeq	NP_001182449.1	5	MANE Select
ENST00000376608.9	Ensembl	ENSP00000479730.1	5	MANE Select
ENST00000544018.6	Ensembl	ENSP00000482471.1	4	Standard
ENST00000545517.2	Ensembl	ENSP00000481713.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

digestion
lipid catabolic process
response to food
positive regulation of catalytic activity

Molecular Function

enzyme activator activity

Cellular Component

extracellular region

dbNSFP Gene Annotations

Source: dbNSFP