PTPN22 c.1108C>A ;(p.H370N)

Variant ID: 1-114380914-G-T

NM_015967.5(PTPN22):c.1108C>A;(p.H370N)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


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

Genes
Ishaq, Rafaqat R; Ilyas, Muhammad M; Habiba, Umme U; Amin, Muhammad Noor Ul MNU; Saeed, Sadia S; Raja, Ghazala Kaukab GK; Shaiq, Pakeeza Arzoo PA; Ahmed, Zubair M ZM
Publication Date: 2023-05-22

Variant appearance in text: PTPN22: 1108C>A; His370Asn
PubMed Link: 37239478
Variant Present in the following documents:
  • Main text
  • genes-14-01118.pdf
View BVdb publication page



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

Plos One
Fidalgo, Felipe F; Torrezan, Giovana Tardin GT; Sá, Bianca Costa Soares de BCS; Barros, Bruna Durães de Figueiredo BDF; Moredo, Luciana Facure LF; Valieris, Renan R; de Souza, Sandro J SJ; Duprat, João Pereira JP; Krepischi, Ana Cristina Victorino ACV; Carraro, Dirce Maria DM
Publication Date: 2022

Variant appearance in text: PTPN22: 1108C>A; His370Asn; rs72650671
PubMed Link: 35085295
Variant Present in the following documents:
  • Main text
  • pone.0262419.s002.xlsx, sheet 1
  • pone.0262419.pdf
View BVdb publication page



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

Plos One
Fidalgo, Felipe F; Torrezan, Giovana Tardin GT; Sá, Bianca Costa Soares de BCS; Barros, Bruna Durães de Figueiredo BDF; Moredo, Luciana Facure LF; Valieris, Renan R; de Souza, Sandro J SJ; Duprat, João Pereira JP; Krepischi, Ana Cristina Victorino ACV; Carraro, Dirce Maria DM
Publication Date: 2022

Variant appearance in text: PTPN22: 1108C>A; His370Asn; rs72650671
PubMed Link: 35085295
Variant Present in the following documents:
  • Main text
  • pone.0262419.s002.xlsx, sheet 1
  • pone.0262419.pdf
View BVdb publication page



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

Scientific Reports
Vidmar, Lovro L; Maver, Ales A; Drulović, Jelena J; Sepčić, Juraj J; Novaković, Ivana I; Ristič, Smiljana S; Šega, Saša S; Peterlin, Borut B
Publication Date: 2019-06-24

Variant appearance in text: PTPN22: 1108C>A; His370Asn; rs72650671
PubMed Link: 31235738
Variant Present in the following documents:
  • 41598_2019_45598_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: PTPN22: H370N
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



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

United European Gastroenterology Journal
Spalinger, Marianne R MR; Scharl, Michael M
Publication Date: 2016-06

Variant appearance in text: PTPN22: H370N
PubMed Link: 27403297
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05

Variant appearance in text: rs72650671
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
View BVdb publication page



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

Annual Review Of Immunology
Bottini, Nunzio N; Peterson, Erik J EJ
Publication Date: 2014

Variant appearance in text: PTPN22: H370N; rs72650671
PubMed Link: 24364806
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Nature Genetics
Rivas, Manuel A MA; Beaudoin, Mélissa M; Gardet, Agnes A; Stevens, Christine C; Sharma, Yashoda Y; Zhang, Clarence K CK; Boucher, Gabrielle G; Ripke, Stephan S; Ellinghaus, David D; Burtt, Noel N; Fennell, Tim T; Kirby, Andrew A; Latiano, Anna A; Goyette, Philippe P; Green, Todd T; Halfvarson, Jonas J; Haritunians, Talin T; Korn, Joshua M JM; Kuruvilla, Finny F; Lagacé, Caroline C; Neale, Benjamin B; Lo, Ken Sin KS; Schumm, Phil P; Törkvist, Leif L; , ; , ; , ; Dubinsky, Marla C MC; Brant, Steven R SR; Silverberg, Mark S MS; Duerr, Richard H RH; Altshuler, David D; Gabriel, Stacey S; Lettre, Guillaume G; Franke, Andre A; D'Amato, Mauro M; McGovern, Dermot P B DP; Cho, Judy H JH; Rioux, John D JD; Xavier, Ramnik J RJ; Daly, Mark J MJ
Publication Date: 2011-10-09

Variant appearance in text: PTPN22: H370N
PubMed Link: 21983784
Variant Present in the following documents:
  • Main text
  • NIHMS335188-supplement-1.pdf
  • nihms335188.pdf
View BVdb publication page