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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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