PTPN22 c.2181C>A ;(p.D727E)

Variant ID: 1-114372283-G-T

NM_015967.5(PTPN22):c.2181C>A;(p.D727E)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Genetics of Thyroid-Stimulating Hormone Receptor-Relevance for Autoimmune Thyroid Disease.

Frontiers In Endocrinology
Stefan, Mihaela M; Faustino, Larissa C LC
Publication Date: 2017

Variant appearance in text: PTPN22: D727E
PubMed Link: 28421036
Variant Present in the following documents:
  • Main text
  • fendo-08-00057.pdf
View BVdb publication page



Association between TSHR gene polymorphism and the risk of Graves' disease: a meta-analysis.

Journal Of Biomedical Research
Qian, Wei W; Xu, Kuanfeng K; Jia, Wenting W; Lan, Ling L; Zheng, Xuqin X; Yang, Xueyang X; Cui, Dai D
Publication Date: 2016-11

Variant appearance in text: PTPN22: D727E
PubMed Link: 27231040
Variant Present in the following documents:
  • jbr-30-06-466.pdf
View BVdb publication page



Dissecting the Genetic Susceptibility to Graves' Disease in a Cohort of Patients of Italian Origin.

Frontiers In Endocrinology
Lombardi, Angela A; Menconi, Francesca F; Greenberg, David D; Concepcion, Erlinda E; Leo, Marenza M; Rocchi, Roberto R; Marinó, Michele M; Keddache, Mehdi M; Tomer, Yaron Y
Publication Date: 2016

Variant appearance in text: PTPN22: D727E
PubMed Link: 27014188
Variant Present in the following documents:
  • Main text
  • fendo-07-00021.pdf
View BVdb publication page



The genetic basis of graves' disease.

Current Genomics
Płoski, Rafał R; Szymański, Konrad K; Bednarczuk, Tomasz T
Publication Date: 2011-12

Variant appearance in text: PTPN22: D727E
PubMed Link: 22654555
Variant Present in the following documents:
  • Main text
  • CG-12-542.pdf
View BVdb publication page



Genetics of thyroid function and disease.

The Clinical Biochemist. Reviews
Panicker, Vijay V
Publication Date: 2011-11

Variant appearance in text: PTPN22: Asp727Glu
PubMed Link: 22147956
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic susceptibility to autoimmune thyroid disease: past, present, and future.

Thyroid : Official Journal Of The American Thyroid Association
Tomer, Yaron Y
Publication Date: 2010-07

Variant appearance in text: PTPN22: D727E
PubMed Link: 20604685
Variant Present in the following documents:
  • Main text
View BVdb publication page



The CD40, CTLA-4, thyroglobulin, TSH receptor, and PTPN22 gene quintet and its contribution to thyroid autoimmunity: back to the future.

Journal Of Autoimmunity
Jacobson, Eric M EM; Tomer, Yaron Y
Publication Date: 2007

Variant appearance in text: PTPN22: D727E
PubMed Link: 17369021
Variant Present in the following documents:
  • Main text
View BVdb publication page