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.

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.

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		1
missense			26	2		28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2			2
Total	0	0	28	3	0

Variants in KRT34

This is a list of pathogenic ClinVar variants found in the KRT34 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-41378102-G-T		not specified	Uncertain significance (Apr 09, 2024)
17-41378111-C-G		not specified	Uncertain significance (Oct 21, 2024)
17-41378118-T-C		not specified	Uncertain significance (Sep 26, 2024)
17-41378128-G-A			Likely benign (Oct 01, 2022)
17-41378128-G-C		not specified	Uncertain significance (Aug 02, 2023)
17-41378974-A-T		not specified	Uncertain significance (May 16, 2023)
17-41378983-C-T		not specified	Uncertain significance (May 15, 2024)
17-41378989-G-A		not specified	Uncertain significance (Jun 12, 2023)
17-41379011-G-A		not specified	Uncertain significance (May 23, 2023)
17-41379016-C-G		not specified	Uncertain significance (Oct 30, 2023)
17-41379067-C-T		not specified	Uncertain significance (Apr 07, 2023)
17-41379068-G-A		not specified	Uncertain significance (Dec 01, 2022)
17-41379076-G-A		not specified	Uncertain significance (Dec 14, 2021)
17-41379106-C-T		not specified	Uncertain significance (Dec 15, 2022)
17-41379108-C-G		not specified	Uncertain significance (Aug 30, 2021)
17-41379143-C-T		not specified	Uncertain significance (Jul 13, 2022)
17-41379460-G-T		not specified	Uncertain significance (Nov 25, 2024)
17-41379471-T-A		not specified	Uncertain significance (Jun 27, 2023)
17-41379472-C-G		not specified	Uncertain significance (Jun 27, 2023)
17-41379475-C-T		not specified	Uncertain significance (Dec 06, 2024)
17-41379578-C-T		not specified	Likely benign (Nov 13, 2024)
17-41379592-A-C		not specified	Uncertain significance (Aug 14, 2023)
17-41379602-G-A		not specified	Uncertain significance (Nov 15, 2024)
17-41379677-T-C		not specified	Likely benign (Nov 15, 2024)
17-41379689-C-G		not specified	Uncertain significance (Mar 31, 2022)

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