ERICH6

protein-coding

glutamate rich 6

Gene summary

Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C3orf44
FAM194A

MANE transcript

NM_152394.5

Inheritance

—

ClinVar variants

U:105B:8

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.2

Max pathogenic AF

—

Genomic locus

chr3:150,659,885-150,703,971

External References & Databases

Ensembl (ENSG00000163645)

Transcript & Mutation Effects

hg38 • Region Span ~44.1 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 ERICH6 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 106

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_152394.5. 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				2 clinvar		2
missense			104 clinvar	6 clinvar		110
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	105	8	0	113

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_152394.5	RefSeq	NP_689607.2	14	MANE Select
ENST00000295910.11	Ensembl	ENSP00000295910.6	14	MANE Select
NM_001308234.2	RefSeq	NP_001295163.1	13	Standard
ENST00000474463.5	Ensembl	ENSP00000419304.1	5	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000295910
Coding exons: 14
Length: 44087
Individuals with no LoFs: 125220
Homozygous LoFs: 4
Heterozygous LoFs: 522
Defined: 125746
p: 0.00209

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.274	363	349	1.04	0.0000168	4368
Missense (PolyPhen)		108	106.77	1.0115		1388
Synonymous	1.14	110	126	0.871	0.00000623	1218
Loss of Function	-1.07	40	33.3	1.20	0.00000166	417

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00050	0.00049	rare
Latino/Admixed American	0.0023	0.0022	notable
Ashkenazi Jewish	0.0015	0.0015	notable
East Asian	0.0014	0.0014	notable
Finnish	0.00037	0.00037	rare
European (Non-Finnish)	0.0027	0.0027	notable
South Asian	0.0023	0.0022	notable
Other	0.0029	0.0029	notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 1.82
RVIS percentile EVS: 97.02

Essentials

Essential (gene trap): N