PTPN22 c.680G>C ;(p.C227S)

Variant ID: 1-114397532-C-G

NM_015967.5(PTPN22):c.680G>C;(p.C227S)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Targeting protein phosphatases in cancer immunotherapy and autoimmune disorders.

Nature Reviews. Drug Discovery
Stanford, Stephanie M SM; Bottini, Nunzio N
Publication Date: 2023-01-24

Variant appearance in text: PTPN22: C227S
PubMed Link: 36693907
Variant Present in the following documents:
  • Main text
  • 41573_2022_Article_618.pdf
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Autoimmunity linked protein phosphatase PTPN22 as a target for cancer immunotherapy.

Journal For Immunotherapy Of Cancer
Cubas, Rafael R; Khan, Zia Z; Gong, Qian Q; Moskalenko, Marina M; Xiong, Huizhong H; Ou, Qinglin Q; Pai, Christine C; Rodriguez, Ryan R; Cheung, Jeanne J; Chan, Andrew C AC
Publication Date: 2020-10

Variant appearance in text: PTPN22: C227S
PubMed Link: 33127657
Variant Present in the following documents:
  • Main text
  • jitc-2020-001439.pdf
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Autoimmunity-associated protein tyrosine phosphatase PEP negatively regulates IFN-α receptor signaling.

The Journal Of Experimental Medicine
Holmes, Derek A DA; Suto, Eric E; Lee, Wyne P WP; Ou, Qinglin Q; Gong, Qian Q; Smith, Hamish R C HR; Caplazi, Patrick P; Chan, Andrew C AC
Publication Date: 2015-06-29

Variant appearance in text: PTPN22: C227S
PubMed Link: 26077719
Variant Present in the following documents:
  • JEM_20142130.pdf
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Autoimmunity-associated LYP-W620 does not impair thymic negative selection of autoreactive T cells.

Plos One
Wu, Dennis J DJ; Zhou, Wenbo W; Enouz, Sarah S; Orrú, Valeria V; Stanford, Stephanie M SM; Maine, Christian J CJ; Rapini, Novella N; Sawatzke, Kristy K; Engel, Isaac I; Fiorillo, Edoardo E; Sherman, Linda A LA; Kronenberg, Mitch M; Zehn, Dietmar D; Peterson, Erik E; Bottini, Nunzio N
Publication Date: 2014

Variant appearance in text: PTPN22: C227S
PubMed Link: 24498279
Variant Present in the following documents:
  • Main text
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Altered expression of protein tyrosine phosphatase, non-receptor type 22 isoforms in systemic lupus erythematosus.

Arthritis Research & Therapy
Chang, Hui-Hsin HH; Tseng, William W; Cui, Jing J; Costenbader, Karen K; Ho, I-Cheng IC
Publication Date: 2014-01-17

Variant appearance in text: PTPN22: C227S
PubMed Link: 24433447
Variant Present in the following documents:
  • Main text
  • ar4440.pdf
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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: C227S
PubMed Link: 24364806
Variant Present in the following documents:
  • Main text
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Cellular biochemistry methods for investigating protein tyrosine phosphatases.

Antioxidants & Redox Signaling
Stanford, Stephanie M SM; Ahmed, Vanessa V; Barrios, Amy M AM; Bottini, Nunzio N
Publication Date: 2014-05-10

Variant appearance in text: PTPN22: C227S
PubMed Link: 24294920
Variant Present in the following documents:
  • Main text
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The autoimmunity-associated gene PTPN22 potentiates toll-like receptor-driven, type 1 interferon-dependent immunity.

Immunity
Wang, Yaya Y; Shaked, Iftach I; Stanford, Stephanie M SM; Zhou, Wenbo W; Curtsinger, Julie M JM; Mikulski, Zbigniew Z; Shaheen, Zachary R ZR; Cheng, Genhong G; Sawatzke, Kristy K; Campbell, Amanda M AM; Auger, Jennifer L JL; Bilgic, Hatice H; Shoyama, Fernanda M FM; Schmeling, David O DO; Balfour, Henry H HH; Hasegawa, Kiminori K; Chan, Andrew C AC; Corbett, John A JA; Binstadt, Bryce A BA; Mescher, Matthew F MF; Ley, Klaus K; Bottini, Nunzio N; Peterson, Erik J EJ
Publication Date: 2013-07-25

Variant appearance in text: PTPN22: C227S
PubMed Link: 23871208
Variant Present in the following documents:
  • Main text
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Distinct functional and conformational states of the human lymphoid tyrosine phosphatase catalytic domain can be targeted by choice of the inhibitor chemotype.

Journal Of Computer-Aided Molecular Design
Vidović, Dušica D; Xie, Yuli Y; Rinderspacher, Alison A; Deng, Shi-Xian SX; Landry, Donald W DW; Chung, Caty C; Smith, Deborah H DH; Tautz, Lutz L; Schürer, Stephan C SC
Publication Date: 2011-09

Variant appearance in text: PTPN22: C227S
PubMed Link: 21904909
Variant Present in the following documents:
  • Main text
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Substrate specificity of lymphoid-specific tyrosine phosphatase (Lyp) and identification of Src kinase-associated protein of 55 kDa homolog (SKAP-HOM) as a Lyp substrate.

The Journal Of Biological Chemistry
Yu, Xiao X; Chen, Ming M; Zhang, Sheng S; Yu, Zhi-Hong ZH; Sun, Jin-Peng JP; Wang, Lina L; Liu, Sijiu S; Imasaki, Tsuyoshi T; Takagi, Yuichiro Y; Zhang, Zhong-Yin ZY
Publication Date: 2011-09-02

Variant appearance in text: Lyp: C227S
PubMed Link: 21719704
Variant Present in the following documents:
  • Main text
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Autoimmune-associated PTPN22 R620W variation reduces phosphorylation of lymphoid phosphatase on an inhibitory tyrosine residue.

The Journal Of Biological Chemistry
Fiorillo, Edoardo E; Orrú, Valeria V; Stanford, Stephanie M SM; Liu, Yingge Y; Salek, Mogjiborahman M; Rapini, Novella N; Schenone, Aaron D AD; Saccucci, Patrizia P; Delogu, Lucia G LG; Angelini, Federica F; Manca Bitti, Maria Luisa ML; Schmedt, Christian C; Chan, Andrew C AC; Acuto, Oreste O; Bottini, Nunzio N
Publication Date: 2010-08-20

Variant appearance in text: PTPN22: C227S
PubMed Link: 20538612
Variant Present in the following documents:
  • Main text
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A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus.

Human Molecular Genetics
Orrú, Valeria V; Tsai, Sophia J SJ; Rueda, Blanca B; Fiorillo, Edoardo E; Stanford, Stephanie M SM; Dasgupta, Jhimli J; Hartiala, Jaana J; Zhao, Lei L; Ortego-Centeno, Norberto N; D'Alfonso, Sandra S; , ; Arnett, Frank C FC; Wu, Hui H; Gonzalez-Gay, Miguel A MA; Tsao, Betty P BP; Pons-Estel, Bernardo B; Alarcon-Riquelme, Marta E ME; He, Yantao Y; Zhang, Zhong-Yin ZY; Allayee, Hooman H; Chen, Xiaojiang S XS; Martin, Javier J; Bottini, Nunzio N
Publication Date: 2009-02-01

Variant appearance in text: PTPN22: C227S
PubMed Link: 18981062
Variant Present in the following documents:
  • Main text
View BVdb publication page