EVA1C

protein-coding

eva-1 homolog C

Gene summary

Enables heparin binding activity. Located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C21orf64
C21orf63
FAM176C

MANE transcript

NM_058187.5

Inheritance

—

ClinVar variants

U:61B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.41

Max pathogenic AF

—

Genomic locus

chr21:32,412,006-32,515,397

External References & Databases

Ensembl (ENSG00000166979)

Transcript & Mutation Effects

hg38 • Region Span ~103.4 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 EVA1C variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 60

not providedTotal: 6

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_058187.5. 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 clinvar	1 clinvar	3
missense			60 clinvar	2 clinvar	2 clinvar	64
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	61	3	3	67

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 77 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_058187.5	RefSeq	NP_478067.2	8	MANE Select
ENST00000300255.7	Ensembl	ENSP00000300255.2	8	MANE Select
NM_001286556.2	RefSeq	NP_001273485.1	8	Standard
NM_001320744.2	RefSeq	NP_001307673.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

biological_process

Molecular Function

heparin binding
carbohydrate binding

Cellular Component

extracellular region
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000300255
Coding exons: 8
Length: 103394
Individuals with no LoFs: 125726
Homozygous LoFs: 0
Heterozygous LoFs: 20
Defined: 125746
p: 0.0000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.802	204	239	0.854	0.0000127	2851
Missense (PolyPhen)		57	86.606	0.65815		1033
Synonymous	0.644	91	99.2	0.918	0.00000562	856
Loss of Function	2.40	8	19.4	0.413	9.03e-7	245

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00025	0.00025	rare
Latino/Admixed American	0.000089	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000071	0.000070	rare
South Asian	0.00013	0.00013	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Binds heparin. {ECO:0000269|PubMed:19470522}.;

Intolerance Scores

RVIS EVS: 0.17
RVIS percentile EVS: 65.96

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