ERICH6

Chr 3

glutamate rich 6

Also known as: C3orf44, ERICH6A, FAM194A

NCBI Gene: 131831ENSG00000163645UniProt: Q7L0X2

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

ResearchGenerating clinical summary…
LOEUF 1.56
Clinical Summary— ERICH6
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
99 VUS of 116 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.56LOEUF
pLI 0.000
Z-score -1.07
OE 1.20 (0.93–1.56)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.27Z-score
OE missense 1.04 (0.95–1.14)
363 obs / 348.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.20 (0.93–1.56)
0≤0.351.4
Missense OE?1.04 (0.95–1.14)
0≤0.61.4
Synonymous OE?0.87
0≤1.21.6
LoF obs/exp: 40 / 33.3Missense obs/exp: 363 / 348.6Syn Z: 1.14

ClinVar Variant Classifications

116 submitted variants in ClinVar

ClinVar

Classification Summary

VUS99
Likely Benign8
99
VUS
8
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
0
99
0
0
99
Likely Benign
1
5
0
2
8
Benign
0
0
0
0
0
Total110402107

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

19 pathogenic / likely-pathogenic (of 20) ClinVar copy-number / structural variants overlap ERICH6 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

ERICH6 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients