KRT34

keratin 34, the group of Keratins, type I

Basic information

Region (hg38): 17:41377669-41382306

Previous symbols: [ "KRTHA4" ]

Links

ENSG00000131737 ∙ NCBI:3885 ∙ OMIM:602763 ∙ HGNC:6452 ∙ Uniprot:O76011 ∙ 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 KRT34 gene.

• not_specified (62 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT34 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001386014.1. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			55	7		62
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	55	8	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRT34	protein_coding	protein_coding	ENST00000394001	7	4754

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.93e-8	0.670	125709	0	39	125748	0.000155

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.34	313	253	1.24	0.0000160	2848
Missense in Polyphen		119	93.667	1.2705		1071
Synonymous	-2.16	142	113	1.26	0.00000730	857
Loss of Function	1.22	14	19.9	0.705	9.43e-7	225

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000612	0.000612
Ashkenazi Jewish	0.00	0.00
East Asian	0.000272	0.000272
Finnish	0.00	0.00
European (Non-Finnish)	0.000221	0.000193
Middle Eastern	0.000272	0.000272
South Asian	0.0000328	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Estrogen signaling pathway - Homo sapiens (human);Vitamin D Receptor Pathway;Keratinization;Developmental Biology (Consensus)

Recessive Scores

• pRec: 0.148

Intolerance Scores

• loftool: 0.162
• rvis_EVS: 0.91
• rvis_percentile_EVS: 89.56

Haploinsufficiency Scores

• pHI: 0.160
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.860

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Krt34

Gene ontology

• Biological process: epidermis development;keratinization;cornification
• Cellular component: extracellular space;cytosol;intermediate filament
• Molecular function: structural molecule activity