KRT24

keratin 24, the group of Keratins, type I

Basic information

Region (hg38): 17:40697991-40703752

Links

ENSG00000167916NCBI:192666OMIM:607742HGNC:18527Uniprot:Q2M2I5AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KRT24 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT24 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
2
clinvar
3
clinvar
5
missense
27
clinvar
2
clinvar
3
clinvar
32
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 27 4 6

Variants in KRT24

This is a list of pathogenic ClinVar variants found in the KRT24 region.

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

Position Type Phenotype Significance ClinVar
17-40698312-A-G Benign (Aug 15, 2017)710111
17-40698334-C-G not specified Uncertain significance (Dec 07, 2021)2265491
17-40698558-C-T not specified Uncertain significance (Apr 05, 2023)2567614
17-40698565-A-G not specified Uncertain significance (Mar 01, 2023)2459657
17-40699447-C-T not specified Uncertain significance (Dec 15, 2023)3116393
17-40699533-C-G not specified Uncertain significance (Mar 18, 2024)3289376
17-40699553-A-G Benign (Aug 15, 2017)710112
17-40699561-C-T Benign (Aug 15, 2017)710113
17-40699571-C-T not specified Uncertain significance (Oct 20, 2023)3116392
17-40699591-G-A not specified Likely benign (Apr 08, 2022)2372475
17-40699613-C-G not specified Uncertain significance (Nov 22, 2021)2393902
17-40700084-C-T not specified Uncertain significance (Jan 30, 2024)3116391
17-40700113-A-G not specified Uncertain significance (Sep 20, 2023)3116390
17-40700236-G-A not specified Uncertain significance (Aug 02, 2022)2305037
17-40700326-C-T not specified Uncertain significance (Mar 25, 2024)3289377
17-40700369-C-A not specified Uncertain significance (Feb 11, 2022)2277215
17-40701142-C-T not specified Uncertain significance (Mar 22, 2023)2525436
17-40701166-C-G not specified Uncertain significance (Mar 06, 2023)2468256
17-40701178-T-A not specified Uncertain significance (Sep 13, 2022)2352305
17-40701268-T-C not specified Uncertain significance (Jul 15, 2021)2405262
17-40701274-G-A not specified Uncertain significance (Nov 22, 2023)3116401
17-40701865-A-T not specified Uncertain significance (Mar 31, 2023)2531731
17-40701885-T-C not specified Uncertain significance (Nov 21, 2023)3116400
17-40701923-G-A not specified Uncertain significance (Mar 19, 2024)3289375
17-40701927-C-T not specified Likely benign (Nov 15, 2021)3116399

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KRT24protein_codingprotein_codingENST00000264651 85760
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.34e-160.005954592628767510541257470.396
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.07003033001.010.00001673385
Missense in Polyphen8796.7270.899441272
Synonymous0.3561141190.9580.000006921073
Loss of Function-0.1252423.31.030.00000126276

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.9220.890
Ashkenazi Jewish0.4210.383
East Asian0.6040.399
Finnish0.5200.499
European (Non-Finnish)0.4280.371
Middle Eastern0.6040.399
South Asian0.5780.468
Other0.4730.363

dbNSFP

Source: dbNSFP

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

Recessive Scores

pRec
0.0654

Intolerance Scores

loftool
0.234
rvis_EVS
1.09
rvis_percentile_EVS
91.9

Haploinsufficiency Scores

pHI
0.222
hipred
N
hipred_score
0.123
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0147

Gene Damage Prediction

AllRecessiveDominant
MendelianHighHighHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Krt24
Phenotype

Gene ontology

Biological process
biological_process;keratinization;cornification
Cellular component
cytosol;intermediate filament;extracellular exosome
Molecular function
molecular_function;structural molecule activity