KRT73

keratin 73, the group of Keratins, type II

Basic information

Region (hg38): 12:52607569-52618559

Links

ENSG00000186049 ∙ NCBI:319101 ∙ OMIM:608247 ∙ HGNC:28928 ∙ Uniprot:Q86Y46 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KRT73 gene.

• Inborn genetic diseases (32 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT73 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						0
missense			31	1		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	31	1	0

Variants in KRT73

This is a list of pathogenic ClinVar variants found in the KRT73 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-52608215-G-A		not specified	Uncertain significance (Jun 29, 2023)
12-52608297-G-A		not specified	Uncertain significance (May 26, 2022)
12-52608299-G-A		not specified	Uncertain significance (Dec 12, 2023)
12-52608320-G-A		not specified	Uncertain significance (Jul 13, 2022)
12-52608343-G-T		not specified	Uncertain significance (Aug 21, 2023)
12-52608350-C-T		not specified	Uncertain significance (Dec 02, 2022)
12-52608386-C-G		not specified	Uncertain significance (Jul 12, 2022)
12-52609249-A-G		not specified	Uncertain significance (Aug 02, 2021)
12-52609252-C-T		not specified	Uncertain significance (Jan 04, 2024)
12-52609274-C-T		not specified	Uncertain significance (Dec 27, 2022)
12-52610642-C-T		not specified	Uncertain significance (Sep 16, 2021)
12-52610703-G-A		not specified	Uncertain significance (Jan 16, 2024)
12-52610742-C-T		not specified	Uncertain significance (Aug 12, 2021)
12-52610772-C-T		not specified	Uncertain significance (Oct 12, 2021)
12-52611288-G-C		not specified	Uncertain significance (Jan 23, 2024)
12-52611301-C-T		not specified	Likely benign (Mar 27, 2023)
12-52613701-A-G		not specified	Uncertain significance (Jul 26, 2022)
12-52613732-C-T		not specified	Uncertain significance (May 26, 2022)
12-52613753-G-T		not specified	Uncertain significance (Feb 17, 2022)
12-52613791-T-C		not specified	Uncertain significance (Jun 12, 2023)
12-52613815-G-C		not specified	Uncertain significance (Jan 29, 2024)
12-52614655-G-C		not specified	Uncertain significance (Apr 13, 2022)
12-52615308-C-T		not specified	Uncertain significance (Feb 07, 2023)
12-52615332-C-T		not specified	Uncertain significance (Oct 04, 2022)
12-52616191-C-T		not specified	Uncertain significance (May 03, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRT73	protein_coding	protein_coding	ENST00000305748	9	10990

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.20e-12	0.130	125518	1	227	125746	0.000907

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.438	352	330	1.07	0.0000206	3511
Missense in Polyphen		101	89.918	1.1232		1165
Synonymous	-0.119	144	142	1.01	0.00000897	1094
Loss of Function	0.625	19	22.2	0.857	0.00000103	262

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000662	0.000662
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.00897	0.00896
Finnish	0.00	0.00
European (Non-Finnish)	0.000168	0.000167
Middle Eastern	0.00897	0.00896
South Asian	0.000926	0.000915
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable). {ECO:0000305}.
• Pathway: Keratinization;Developmental Biology (Consensus)

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.188
• rvis_EVS: -0.13
• rvis_percentile_EVS: 44.09

Haploinsufficiency Scores

• pHI: 0.0907
• hipred: N
• hipred_score: 0.248
• ghis: 0.458

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.771

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Krt73

Gene ontology

• Biological process: biological_process;keratinization;cornification
• Cellular component: nucleus;cytosol;keratin filament;extracellular exosome
• Molecular function: molecular_function;structural molecule activity;protein binding