JAK1 c.2404-125C>A

Variant ID: 1-65307409-G-T

NM_002227.2(JAK1):c.2404-125C>A

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.

Npj Precision Oncology
Yoshizawa, Takahiro T; Uchibori, Ken K; Araki, Mitsugu M; Matsumoto, Shigeyuki S; Ma, Biao B; Kanada, Ryo R; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Ariyasu, Ryo R; Kitazono, Satoru S; Ninomiya, Hironori H; Takeuchi, Kengo K; Yanagitani, Noriko N; Takagi, Satoshi S; Kishi, Kazuma K; Fujita, Naoya N; Okuno, Yasushi Y; Nishio, Makoto M; Katayama, Ryohei R
Publication Date: 2021-04-16

Variant appearance in text: rs310247
PubMed Link: 33863983
Variant Present in the following documents:
  • 41698_2021_170_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs310247
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



No significant impact of IFN-γ pathway gene variants on tuberculosis susceptibility in a West African population.

European Journal Of Human Genetics : Ejhg
Meyer, Christian G CG; Intemann, Christopher D CD; Förster, Birgit B; Owusu-Dabo, Ellis E; Franke, Andre A; Horstmann, Rolf D RD; Thye, Thorsten T
Publication Date: 2016-05

Variant appearance in text: rs310247
PubMed Link: 26242990
Variant Present in the following documents:
  • Main text
View BVdb publication page



An epistatic interaction between the PAX8 and STK17B genes in papillary thyroid cancer susceptibility.

Plos One
Landa, Iñigo I; Boullosa, Cesar C; Inglada-Pérez, Lucía L; Sastre-Perona, Ana A; Pastor, Susana S; Velázquez, Antonia A; Mancikova, Veronika V; Ruiz-Llorente, Sergio S; Schiavi, Francesca F; Marcos, Ricard R; Malats, Nuria N; Opocher, Giuseppe G; Diaz-Uriarte, Ramon R; Santisteban, Pilar P; Valencia, Alfonso A; Robledo, Mercedes M
Publication Date: 2013

Variant appearance in text: rs310247
PubMed Link: 24086368
Variant Present in the following documents:
  • Main text
  • pone.0074765.pdf
View BVdb publication page



Pathway analysis using genome-wide association study data for coronary restenosis--a potential role for the PARVB gene.

Plos One
Verschuren, Jeffrey J W JJ; Trompet, Stella S; Sampietro, M Lourdes ML; Heijmans, Bastiaan T BT; Koch, Werner W; Kastrati, Adnan A; Houwing-Duistermaat, Jeanine J JJ; Slagboom, P Eline PE; Quax, Paul H A PH; Jukema, J Wouter JW
Publication Date: 2013

Variant appearance in text: rs310247
PubMed Link: 23950981
Variant Present in the following documents:
  • Main text
View BVdb publication page



JAK1 gene polymorphisms are associated with the outcomes of hepatitis B virus infection, but not with α interferon therapy response in a Han Chinese population.

Genetic Testing And Molecular Biomarkers
Chen, Kangmei K; Min, Hanyi H; Wu, Xiaopan X; Zhu, Xilin X; Li, Zhuo Z; Li, Hui H; Liu, Ying Y
Publication Date: 2012-10

Variant appearance in text: rs310247
PubMed Link: 22901011
Variant Present in the following documents:
  • Main text
View BVdb publication page