KRT23

keratin 23, the group of Keratins, type I

Basic information

Region (hg38): 17:40922700-40937646

Links

ENSG00000108244NCBI:25984OMIM:606194HGNC:6438Uniprot:Q9C075AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KRT23 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT23 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
1
clinvar
1
missense
21
clinvar
3
clinvar
24
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 21 3 1

Variants in KRT23

This is a list of pathogenic ClinVar variants found in the KRT23 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
17-40922994-C-T not specified Uncertain significance (Jun 11, 2024)3289372
17-40924498-C-T not specified Uncertain significance (May 24, 2024)3289371
17-40924499-G-A not specified Uncertain significance (Feb 28, 2024)3116387
17-40925378-C-T not specified Likely benign (Apr 25, 2023)2540968
17-40925379-G-A not specified Uncertain significance (Aug 20, 2024)3535902
17-40925415-T-C not specified Uncertain significance (Aug 04, 2023)2616429
17-40925450-C-T not specified Uncertain significance (Mar 17, 2023)2523725
17-40925478-G-A Benign (Jul 10, 2018)708991
17-40925528-G-A not specified Uncertain significance (Jul 15, 2021)2317282
17-40925556-T-C not specified Uncertain significance (Mar 28, 2024)3289373
17-40925562-C-G not specified Uncertain significance (Oct 20, 2024)3535905
17-40928248-T-C not specified Uncertain significance (Oct 04, 2024)3535906
17-40928310-T-G not specified Likely benign (Nov 08, 2022)2323883
17-40928311-C-T not specified Uncertain significance (Nov 13, 2023)3116389
17-40928465-T-C not specified Uncertain significance (Mar 24, 2023)2529143
17-40928513-A-T not specified Uncertain significance (Jul 02, 2024)3535907
17-40928554-A-T not specified Uncertain significance (Aug 19, 2024)3535903
17-40928588-A-T not specified Uncertain significance (Jan 04, 2022)2397004
17-40929956-T-C not specified Uncertain significance (May 17, 2023)2548255
17-40930034-G-T not specified Uncertain significance (Aug 02, 2023)2615513
17-40930073-T-C not specified Uncertain significance (Oct 24, 2024)3535910
17-40931404-C-T not specified Uncertain significance (Mar 17, 2023)2526071
17-40931406-T-G not specified Uncertain significance (Dec 04, 2024)3535908
17-40931412-A-C not specified Uncertain significance (May 06, 2024)3289374
17-40936213-C-T not specified Uncertain significance (Dec 16, 2023)3116388

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KRT23protein_codingprotein_codingENST00000209718 814939
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
4.66e-130.05181256980501257480.000199
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.2372372470.9580.00001422784
Missense in Polyphen9690.4891.06091091
Synonymous0.8918697.20.8850.00000575791
Loss of Function0.3442021.70.9200.00000116237

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003830.000383
Ashkenazi Jewish0.00009920.0000992
East Asian0.0001090.000109
Finnish0.000.00
European (Non-Finnish)0.0002030.000202
Middle Eastern0.0001090.000109
South Asian0.0004250.000425
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Pathway
Estrogen signaling pathway - Homo sapiens (human);Keratinization;Developmental Biology (Consensus)

Recessive Scores

pRec
0.125

Intolerance Scores

loftool
0.216
rvis_EVS
0.51
rvis_percentile_EVS
80.2

Haploinsufficiency Scores

pHI
0.448
hipred
N
hipred_score
0.170
ghis
0.439

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.558

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Krt23
Phenotype

Gene ontology

Biological process
keratinization;cornification
Cellular component
cytosol;intermediate filament
Molecular function
structural molecule activity