PERCC1

protein-coding

proline and glutamate rich with coiled coil 1

Gene summary

Predicted to be involved in digestive tract morphogenesis and enteroendocrine cell differentiation. Implicated in congenital diarrhea. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001365310.2

Inheritance

ClinVar variants

P:6U:1B:3

Top phenotype

Diarrhea 11, malabsorptive, congenital

Max pathogenic AF

—

Genomic locus

chr16:1,431,078-1,434,441

External References & Databases

Ensembl (ENSG00000284395)

NCBI Gene (105371045)

Transcript & Mutation Effects

hg38 • Region Span ~3.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

Clinical Genomic Database (CGD)

Diarrhea 11, malabsorptive, congenitalAR

Manifestation: Gastrointestinal

Intervention: Gastrointestinal

Rationale: The condition can involve severe and early-onset diarrhea, and awareness may help with management (eg, via parenteral nutrition, which has been described as necessary)

Comments: Noncoding variants in what has been designated as an intestine critical region (ICR) affect expression of the PERCC1 gene

Refs: 31217582

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to PERCC1 variants in ClinVar

3 Conditions Cataloged

Diarrhea 11, malabsorptive, congenitalTotal: 6

not providedTotal: 3

PERCC1-related conditionTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001365310.2. 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				2 clinvar		2
missense			1 clinvar	1 clinvar		2
nonsense		3 clinvar				3
start loss	1 clinvar					1
frameshift						0
splice donor/acceptor (+/-2bp)	2 clinvar					2
Total	3	3	1	3	0	10

Highest pathogenic variant AF is 0.00008777826

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001365310.2	RefSeq	NP_001352239.1	1	MANE Select
ENST00000640283.2	Ensembl	ENSP00000492108.2	1	MANE Select