Varaico: Literature-Extracted Genetic Variants

Gene:PTPN22
Variant:p.H370N
Back to variants list

PTPN22

NM_015967.8:p.H370N

Associated Papers

Whole Exome Sequencing Reveals Clustering of Variants of Known Vitiligo Genes in Multiplex Consanguineous Pakistani Families.

Ishaq R et al.

Genes, 2023

Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.

Fidalgo F et al.

Plos One, 2022

Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes.

Vidmar L et al.

Scientific Reports, 2019

31235738 (PubMed )
Supplement: 41598_2019_45598_MOESM2_ESM.xlsx › Sheet1

The role for protein tyrosine phosphatase non-receptor type 22 in regulating intestinal homeostasis.

Spalinger MR et al.

United European Gastroenterology Journal, 2016

Tyrosine phosphatase PTPN22: multifunctional regulator of immune signaling, development, and disease.

Bottini N et al.

Annual Review of Immunology, 2014

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.

Rivas MA et al.

Nature Genetics, 2011

Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease.

Skinningsrud B et al.

European Journal of Human Genetics : Ejhg, 2008

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."