Varaico: Literature-Extracted Genetic Variants

Gene:IFI30
Variant:p.Y229*
Back to variants list

IFI30

NM_006332.5:p.Y229*

Associated Papers

Whole-genome sequencing analysis identifies rare, large-effect noncoding variants and regulatory regions associated with circulating protein levels.

Hawkes G et al.

Nature Genetics, 2025

39994471 (PubMed )
Supplement: 41588_2025_2095_MOESM4_ESM.xlsx › ST7

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Nassir N et al.

Human Genomics, 2021

34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbLOF

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Husson T et al.

Translational Psychiatry, 2020

32094338 (PubMed )
Supplement: 41398_2020_760_MOESM2_ESM.xlsx › De_novo

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Guo H et al.

Nature Communications, 2019

31616000 (PubMed )
Supplement: 41467_2019_12435_MOESM2_ESM.xls › Supp._Data_1

Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism.

Luhrs K et al.

Autism Research and Treatment, 2017

29250444 (PubMed )
Supplement: 9371964.f1.xlsx › SI_Table3
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."