CORO6

protein-coding

coronin 6, the group of WD repeat domain containing|Coronins

Gene summary

Predicted to enable actin filament binding activity. Predicted to be involved in actin filament organization. Predicted to be located in lamellipodium. Predicted to be active in actin filament and plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_032854.4

Inheritance

—

ClinVar variants

U:89B:2

Top phenotype

Breast ductal adenocarcinoma

gnomAD constraint

pLI —, LoF o/e 0.61

Max pathogenic AF

—

Genomic locus

chr17:29,614,756-29,622,912

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~8.2 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 CORO6 variants in ClinVar

2 Conditions Cataloged
not specifiedTotal: 82
Breast ductal adenocarcinomaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032854.4. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
missense
84
clinvar
2
clinvar
86
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
4
clinvar
4
Total00892091
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 147 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_032854.4RefSeqNP_116243.210MANE Select
ENST00000388767.8EnsemblENSP00000373419.310MANE Select
NM_001351301.3RefSeqNP_001338230.16Standard
NM_001351302.3RefSeqNP_001338231.16Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

  • protein binding

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000345068
Coding exons
10
Length
8152
Individuals with no LoFs
125681
Homozygous LoFs
1
Heterozygous LoFs
66
Defined
125748
p
0.000266
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense0.4492732950.9260.00001683087
Missense (PolyPhen)95112.630.843441131
Synonymous1.301021200.8490.00000731926
Loss of Function1.671321.30.6100.00000104227

Population LoF Frequency

PopulationCAFp-valueStatus
African0.000200.00018rare
Latino/Admixed American0.000260.00026rare
Ashkenazi Jewish0.00280.0027notable
East Asian0.000220.00022rare
Finnish0.0000940.000092rare
European (Non-Finnish)0.000110.00011rare
South Asian0.000200.00020rare
Other0.000660.00065rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool
0.670
RVIS EVS
-0.25
RVIS percentile EVS
35.75

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Indispensability pred.
N
Indispensability score
0.192

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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