IFNL4

interferon lambda 4 (gene/pseudogene)

Basic information

Region (hg38): 19:39246314-39248856

Links

∙ NCBI:101180976 ∙ OMIM:615090 ∙ HGNC:44480 ∙ Uniprot:K9M1U5 ∙ 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 IFNL4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IFNL4 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

Variants in IFNL4

This is a list of pathogenic ClinVar variants found in the IFNL4 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-39248147-C-T		not specified • peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, and telaprevir response - Efficacy • peginterferon alfa-2a, peginterferon alfa-2b, and ribavirin response - Efficacy • boceprevir, peginterferon alfa-2a, peginterferon alfa-2b and ribavirin response - Efficacy	drug response (Mar 24, 2021)	225949

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Cytokine that may trigger an antiviral response activating the JAK-STAT pathway and up-regulating specifically some interferon-stimulated genes. {ECO:0000269|PubMed:23291588}.;

Gene ontology

Biological process: tyrosine phosphorylation of STAT protein;regulation of signaling receptor activity;innate immune response;positive regulation of immune response;defense response to virus
Cellular component: extracellular space;cytoplasm
Molecular function: signaling receptor binding;cytokine activity