SI c.1837_1838delinsAG ;(p.E613R)

Variant ID: 3-164764678-TC-CT

NM_001041.3(SI):c.1837_1838delinsAG;(p.E613R)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies.

Pediatric Rheumatology Online Journal
Tirosh, Irit I; Spielman, Shiri S; Barel, Ortal O; Ram, Reut R; Stauber, Tali T; Paret, Gideon G; Rubinsthein, Marina M; Pessach, Itai M IM; Gerstein, Maya M; Anikster, Yair Y; Shukrun, Rachel R; Dagan, Adi A; Adler, Katerina K; Pode-Shakked, Ben B; Volkov, Alexander A; Perelman, Marina M; Greenberger, Shoshana S; Somech, Raz R; Lahav, Einat E; Majmundar, Amar J AJ; Padeh, Shai S; Hildebrandt, Friedhelm F; Vivante, Asaf A
Publication Date: 2019-07-30

Variant appearance in text: SI: E613R
PubMed Link: 31362757
Variant Present in the following documents:
  • 12969_2019_Article_349.pdf
View BVdb publication page



Unbiased modifier screen reveals that signal strength determines the regulatory role murine TLR9 plays in autoantibody production.

Journal Of Immunology (Baltimore, Md. : 1950)
Mills, Robyn E RE; Lam, Viola C VC; Tan, Allison A; Cresalia, Nicole N; Oksenberg, Nir N; Zikherman, Julie J; Anderson, Mark M; Weiss, Arthur A; Hermiston, Michelle L ML
Publication Date: 2015-04-15

Variant appearance in text: SI: E613R
PubMed Link: 25769918
Variant Present in the following documents:
  • Main text
View BVdb publication page



A phospholipase C-γ1-independent, RasGRP1-ERK-dependent pathway drives lymphoproliferative disease in linker for activation of T cells-Y136F mutant mice.

Journal Of Immunology (Baltimore, Md. : 1950)
Kortum, Robert L RL; Rouquette-Jazdanian, Alexandre K AK; Miyaji, Michihiko M; Merrill, Robert K RK; Markegard, Evan E; Pinski, John M JM; Wesselink, Amelia A; Nath, Nandan N NN; Alexander, Clayton P CP; Li, Wenmei W; Kedei, Noemi N; Roose, Jeroen P JP; Blumberg, Peter M PM; Samelson, Lawrence E LE; Sommers, Connie L CL
Publication Date: 2013-01-01

Variant appearance in text: SI: E613R
PubMed Link: 23209318
Variant Present in the following documents:
  • Main text
View BVdb publication page



Quantitative differences in CD45 expression unmask functions for CD45 in B-cell development, tolerance, and survival.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Zikherman, Julie J; Doan, Kristin K; Parameswaran, Ramya R; Raschke, William W; Weiss, Arthur A
Publication Date: 2012-01-03

Variant appearance in text: SI: E613R
PubMed Link: 22135465
Variant Present in the following documents:
  • Main text
View BVdb publication page