PTPN22 c.1853C>T ;(p.P618L)

Variant ID: 1-114377573-G-A

NM_015967.5(PTPN22):c.1853C>T;(p.P618L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes.

Scientific Reports
Helgadottir, Hafdis T HT; Thutkawkorapin, Jessada J; Lagerstedt-Robinson, Kristina K; Lindblom, Annika A
Publication Date: 2021-07-19

Variant appearance in text: rs764275349
PubMed Link: 34282249
Variant Present in the following documents:
  • 41598_2021_94316_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Genetic Association of PTPN22 Polymorphisms with Autoimmune Hepatitis and Primary Biliary Cholangitis in Japan.

Scientific Reports
Umemura, Takeji T; Joshita, Satoru S; Yamazaki, Tomoo T; Komatsu, Michiharu M; Katsuyama, Yoshihiko Y; Yoshizawa, Kaname K; Tanaka, Eiji E; Ota, Masao M
Publication Date: 2016-07-11

Variant appearance in text: rs764275349
PubMed Link: 27406031
Variant Present in the following documents:
  • Main text
  • srep29770.pdf
View BVdb publication page